Turner-Kieser syndrome

Related Terms

Autosomal dominant trait, clubfoot, Fong's disease, glaucoma, hereditary onycho-osteodysplasia, HOOD, iliac horns, kidney disease, LIM-homeodomain gene, LMX1B gene, lordosis, proteinuria, scoliosis, swayback, talipes, Turner-Kieser syndrome.

Background

Nail patella syndrome (NPS), also called Fong's disease, hereditary onycho-osteodysplasia (HOOD), and Turner-Kieser syndrome, is a genetic disorder that causes physical abnormalities of the bones, joints, fingernails, kidneys, and eyes. It is generally characterized by absent or underdeveloped kneecaps and nails (particularly the thumbnails).
The symptoms of NPS vary considerably among patients. Some may only be mildly affected, while others may need to use a wheelchair or may develop kidney disease.
Although NPS is a genetic disorder, not all cases are inherited, or passed down from family members. About 20% of cases occur when the LIM-homeodomain(LMX1B) gene randomly mutates during the development of the egg, sperm, or embryo. Researchers estimate that about one person out of 50,000 is born with NPS worldwide. The disorder can affect anyone, regardless of age, sex, race, or ethnicity.
Currently, there is no cure for NPS. However, treatment is available to manage symptoms and to help prevent complications. Specific treatments depend on the person's individual symptoms. The life expectancy of a person with NPS is usually only affected if kidney disease develops. An estimated 8% of people with NPS die from kidney-related complications.

Signs and symptoms

General: Symptoms of nail patella syndrome (NPS) vary considerably among patients, even if they are from the same family. Some people may only be mildly affected by the disorder, while others may need to use wheelchairs or may develop kidney disease. Studies are underway to determine what influences the variety and severity of symptoms. The most common abnormalities develop in the elbows, knees, and nails.
Back: Many people with NPS develop scoliosis and/or lordosis. Scoliosis occurs when the spine curves to the side. Lordosis, also called swayback, occurs when the spine curves forward.
Clubfoot: Another common symptom of NPS is a clubfoot, also called talipes. This occurs when one or both feet are twisted abnormally, causing a club-like appearance.
Dental complications: Some people with NPS may have dental problems, such as weak teeth or losing baby teeth earlier than normal. Some may also have very thin tooth enamel.
Elbows: About 90% of people with NPS develop abnormalities in the elbow joints and forearm bones. As a result, these patients may be unable to completely straighten their arms. This may reduce arm mobility and the rotation of the wrists. Sometimes the skin may have a webbed-like appearance at the elbow.
Knees: More than 90% of people with NPS have knee abnormalities. The kneecap may be smaller than normal, irregularly shaped, or completely absent. Such deformities may cause the joint to be unstable. In many cases, the muscles surrounding the knee may be poorly developed. Sometimes, one knee is affected differently than the other. Absence of the kneecaps (called hypoplastic patella) and deformities of the knee joint may give the knee a square appearance.
Nails: An estimated 98% of people with NPS have either underdeveloped or absent fingernails. The toenails may also be affected. In addition, the underdeveloped nails may be cracked, brittle, discolored, ridged, or concave. The thumbnails are usually the most severely affected. In people with NPS, the lunulae, or white-colored half-moon shapes at the base of the nail beneath the nail plate, are generally triangular in shape. Sometimes nail abnormalities are less noticeable. In such cases, only the nails' lunulae may be affected.
Neurological problems: Some patients may develop neurological problems. Symptoms commonly include numbness, tingling, or burning sensations in the legs or arms that last from several minutes to several hours. Neurological problems are often caused by spinal or joint problems.
Pelvis/hips: Many people with NPS develop iliac horns, which are bony growths that develop on the pelvic bones. In addition, the hip joints and pelvis may be malformed, increasing the risk of hip dislocations.
Skin: The skin on the hands may be loose and wrinkled. In some cases, the skin may appear smooth and have no creases. It is also common for the skin near the inside of the elbows to appear web-like.
Other: Other abnormalities that may be caused by NPS include a digestive disorder called irritable bowel syndrome (IBS), frequent urinary tract infections (UTIs), attention-deficit disorder (ADD), and underdeveloped muscles in the chest, arms, and legs. Some women may have a tilted uterus, in which the uterus is tipped backwards toward the back of the pelvis. The thyroid gland, which regulates the body's metabolism and energy level, may be overactive and produce too many hormones.

Diagnosis

Physical examination and imaging studies: Nail patella syndrome (NPS) is typically diagnosed based on a thorough physical examination and imaging studies, such as an X-ray or magnetic resonance imaging (MRI) scan of the bones. Patients who have characteristic abnormalities of the nails and kneecaps or bony growths on the pelvic bones (called iliac horns) are often diagnosed with the disorder.
Genetic testing: Genetic testing is only available through research institutions that are studying the disorder. A sample of the patient's blood is analyzed in a laboratory for the presence of a mutated LIM-homeodomain (LMX1B) gene.
If there is a family history of NPS, prenatal genetic testing may be offered to determine if a patient's fetus has the disorder. However, testing is not widely available, and prenatal genetic testing for NPS is controversial because it cannot predict how severe the disorder will be. In addition, prenatal genetic testing carries serious risks, including miscarriage. Therefore, patients should discuss the potential health benefits and risks associated with these procedures with a healthcare professional and/or genetic counselor before making any medical decisions.

Complications

Back problems: Nail patella syndrome (NPS) patients with scoliosis have an increased risk of experiencing chronic back pain as adults. If scoliosis is left untreated, patients are more likely to develop arthritis of the spine.
Dental problems: NPS patients who have weak or thin enamel on the teeth have an increased risk of experiencing dental problems. For instance, the teeth may be prone to breakage or discoloration.
Difficulty walking: If left untreated, a clubfoot may prevent patients from walking on the soles of their feet. Instead, patients may walk on the outside or balls of their feet. As a result, this abnormal walking pattern may prevent the calf muscles from growing properly and may cause sores or calluses to develop on the feet. Having a clubfoot also increases the risk of arthritis.
Dislocated hips: NPS patients have an increased risk of dislocating their hips. A dislocated hip is a medical emergency. When the hip is dislocated, blood is unable to reach the top of the thighbone. If the hip is not promptly replaced in its socket, it may lead to permanent bone damage, called avascular necrosis.
Elbow problems: Patients may be unable to completely straighten their arms. This reduces arm mobility, as well as the rotation of the wrists.
Glaucoma: Glaucoma refers to a group of eye disorders that cause increased pressure inside the eyes. Studies suggest that open-angle glaucoma is a complication of NPS. This type of glaucoma occurs when fluid that flows into the front chamber of the eye is unable to drain properly, causing pressure to build up. It is unclear if open-angle glaucoma is caused by the same genetic mutation as NPS or a related mutation in a different gene. Open-angle glaucoma usually causes no symptoms at first. But if left untreated, the condition may permanently damage the eye, leading to vision loss or blindness.
Kidney disease: About 30-50% of people with NPS develop kidney problems, such as glomerulonephritis and nephropathy. Kidney problems are rare in children, and kidney failure is uncommon in people younger than 40 years old. Often, the first signs of kidney disease include blood and protein in the urine. Excess protein in the urine, known as proteinuria, typically causes the urine to appear foamy. Some research suggests that the location of the LMXB1 mutation may play a role in the frequency and severity of proteinuria. An estimated 8% of people with NPS die from kidney-related complications, including kidney failure.
Knee dislocation: A common complication of NPS is knee dislocation, which occurs when the kneecap slips out of place. This is because people with NPS often have underdeveloped or malformed kneecaps and weak muscles surrounding the knees.

Treatment

General: Currently, there is no cure for nail patella syndrome (NPS). However, treatment is available to manage symptoms and prevent complications. Specific treatment options depend on the person's individual symptoms.
Assisted mobility devices: A cane, walker, or wheelchair may be required if walking becomes painful or difficult as a result of bone, tendon, ligament, or muscle problems.
Glaucoma medications: The first line of treatment for most cases of glaucoma, except emergency situations, is prescription eyedrops. Antiglaucoma drugs decrease pressure inside the eyes. Eyedrops are frequently prescribed because they tend to have fewer side effects. Using eyedrops as prescribed is very important. Adrenergic agents, such as epinephrine (Adrenalin?) and dipivefrin (Propine?), reduce the production of fluid and increase the amount of fluid drainage. Allergic reactions, such as red, itchy, and watery eyes, frequently occur. Other side effects include increased heart rate and dry mouth. Alpha-agonists, such as apraclonidine (Iopidine?) and brimonidine (Alphagan?), reduce aqueous humor production and increase the eye's fluid outflow. Side effects may include fatigue (extreme tiredness), dry mouth, red eye, or red skin around the eye. Beta-blockers, such as timolol (Timoptic?), levobunolol (Betagan?), and betaxolol (Betoptic?), decrease the rate at which fluid flows into the eye. Side effects may include a slow or irregular heartbeat, depression, impotence, and breathing problems in patients with asthma or emphysema. Carbonic anhydrase inhibitors, such as dorzolamide (Trusopt?) and brinzolamide (Azopt?), reduce fluid flow into the eye. Side effects may include skin rash, red eye or irritation, nausea or upset stomach, altered taste (especially with carbonated beverages), weight loss, and fatigue. Combinations of eyedrops are available for patients who require more than one type of eyedrop. Examples include Cosopt? (dorzolamide and timolol) and Xalacom? (latanoprost and timolol). Cholinergic agents, such as pilocarpine (Pilocar?) and carbachol (Isopto Carbachol?), help increase the rate of fluid drainage from the eye. These drugs constrict the pupil, helping to open blockages of aqueous humor flow. Side effects may include headache, blurred vision, and darkening of vision. Prostaglandin analogs, such as latanoprost (Xalatan?), bimatoprost (Lumigan?), and travoprost (Travatan?), increase the outward flow of fluid from the eye. Side effects may include eye redness or irritation, a change in eye color (mostly in hazel or green eyes), increase in thickness and number of eyelashes, and joint aches or flu-like symptoms.
If eyedrops alone do not bring the intraocular pressure (IOP) down to the desired level, oral medications may also be prescribed, including the carbonic anhydrase inhibitor acetazolamide (Diamox?). These drugs decrease the amount of fluid produced in the eyes. Taking these medications with meals may reduce side effects of nausea and vomiting. When people begin treatment with carbonic anhydrase inhibitors, they may experience a frequent need to urinate and a tingling sensation in the fingers and toes. After several days, these symptoms usually disappear. Other possible side effects may include rash, depression, fatigue, lethargy, kidney stones, upset stomach, a metallic taste (in carbonated beverages), impotence, potassium loss, and weight loss.
Hemodialysis: In cases of severe kidney damage or kidney failure, hemodialysis may be administered. Dialysis removes toxic substances and waste from the blood when kidneys are unable to perform this function. During hemodialysis, a hollow tube, called a catheter, is inserted into a patient's vein at the hospital. The blood is then filtered through a dialysis machine to remove waste products from the blood. The filtered blood is then returned to the patient. This procedure typically lasts about 3-4 hours. In general, patients with kidney failure undergo dialysis about three times per week. Long-term complications of hemodialysis include nerve damage, amyloidosis (the buildup of protein in the organs and tissues), and various types of heart disease. Increasing the frequency and length of treatments has been shown to improve the symptoms of these long-term complications
Peritoneal dialysis: Patients who have kidney failure may undergo peritoneal dialysis. This type of dialysis can be performed at home, but it must be done every day.
During peritoneal dialysis, a catheter fills the abdomen with a dialysis solution, which is a fluid that removes toxins and extra fluid from the blood. The abdominal walls are lined with a membrane called the peritoneum. This membrane allows extra fluid to pass from the blood and into the dialysis solution. The dialysis solution collects the waste, and then the dialysis solution is drained from the body. The entire process takes about 30-40 minutes daily. Most patients have to repeat this process about four times daily.
A type of peritoneal dialysis called continuous ambulatory peritoneal dialysis (CAPD) does not require a machine. Patients are able to go about their normal daily activities while the dialysis solution is in the abdomen. Another type of peritoneal dialysis, called continuous cycling peritoneal dialysis (CCPD), involves a machine that fills and drains the abdomen, usually while the patient sleeps.
Peritonitis, or an infection of the abdominal cavity, is the most common complication of peritoneal dialysis.
Kidney transplant: In some patients with kidney disease, the kidneys may fail and become unable to function. Kidney failure is a fatal condition that may necessitate kidney transplantation. Because people can live with just one functioning kidney, only one donated kidney is needed. Studies have shown that kidney disease does not typically come back after an NPS patient receives a kidney transplant.
Following a kidney transplant, patients will need to take medications that weaken the immune system (called immunosuppressants) for the rest of their lives. Immunosuppressants prevent transplant rejection and graft-versus-host disease, both of which occur when a person's immune system attacks the transplanted organs. The most commonly prescribed oral immunosuppressants include tacrolimus (Prograf?), mycophenolate mofetil (CellCept?), sirolimus (Rapamune?), prednisone (Prednisone Intensol?), cyclosporin (Neoral?, Sandimmune?, or Gengraf?), and azathioprine (Imuran?). In general, patients are typically prescribed 2-3 medications for long-term immunosuppression.
Because kidney transplant recipients have only one functioning kidney after surgery, they need to make sure that the kidney is not overworked. This may require altering the diet. Alcohol and caffeine should be avoided, because these products contain toxins and wastes that are difficult for just one kidney to filter from the blood.
Not all patients with kidney failure are suitable candidates for kidney transplantation. The transplant must come from a donor whose body tissues are a close biological match to the recipient. The donated kidney may come from a living relative who is a match or from a deceased person who is identified as a volunteer donor. In order to receive an organ from a deceased donor, patients are added to a national waiting list. Members of the transplant center conduct medical tests and consider the patient's mental and physical health and personal support system before adding him or her to the transplant list. There is no way to know how long a patient will wait. Some patients will wait weeks, while others may wait years. Some patients die of kidney failure before they are able to receive an organ.
As with any major surgery, serious health risks are associated with the kidney transplantation, including infection and increased bleeding.
Surgery: If medications are not successful, some patients with glaucoma may require a surgical procedure called laser peripheral iridotomy. During the procedure, a surgeon creates a tiny opening in the eye to allow fluid to flow out. This ultimately decreases pressure inside the eye.
Bone or joint surgery (called orthopedic surgery) may be needed to correct a hip or knee dislocation or bone abnormalities, such as a clubfoot or severe cases of scoliosis or lordosis. Although more than 90% of patients with NPS have abnormal knees, surgery is rarely needed, because most patients do not experience serious knee problems.

Integrative therapies

Note: Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of nail patella syndrome (NPS). However, some therapies have been studied as a way to treat or prevent kidney disease and/or glaucoma, which are common complications of NPS. It is important to note that these studies did not include patients with NPS. The integrative therapies listed below should be used only under the supervision of a qualified healthcare provider and should not replace other proven therapies.
Good scientific evidence:
Chelation therapy: During chelation therapy, EDTA (ethylene diamine tetraacetic acid), usually in combination with vitamins, trace elements, and iron supplements, is injected into the vein to treat a variety of diseases. Several studies support the use of EDTA chelation to reduce lead toxicity associated with chronic kidney insufficiency and to slow the progression of the disorder. More studies are needed to confirm these findings, but EDTA chelation may be considered a useful adjunctive therapy for the treatment of kidney dysfunction.
Avoid with heart disease, liver disease, kidney disease, immune system disorders, or bleeding disorders, or if taking drugs that increase the risk of bleeding. Avoid if pregnant or breastfeeding, due to potential toxic effects.
Coleus: Multiple, small randomized controlled trials and a case series suggest that a compound found in coleus (Coleus forskohlii), called forskolin, improves glaucoma. Forskolin has reduced intraocular pressure (IOP) in low-quality laboratory studies and studies in humans. Studies use an intraocular (into the eye) suspension of forskolin, not available as a dietary supplement in the United States. Studies are needed with standardized extracts of coleus to establish the safety and efficacy of coleus supplements in glaucoma.
Caution is advised when taking coleus supplements, as numerous adverse effects are possible. Coleus supplements may decrease blood pressure and should not be taken along with hypotensive (blood pressure-lowering) medications or those with hypotension (low blood pressure). Forskolin may stimulate thyroid hormone production, so coleus should not be used in individuals taking medications for thyroid conditions or individuals with thyroid disorders. Coleus should not be used if pregnant or breastfeeding, unless otherwise directed by a doctor.
Rhubarb: In laboratory studies, rhubarb has been shown to have positive effects on chronic kidney failure. These studies show promise for human use. In some studies, rhubarb was more effective than captopril, and rhubarb combined with captopril was more effective than either substance alone. Higher-quality studies are necessary to confirm this hypothesis.
Avoid if allergic or hypersensitive to rhubarb, its constituents, or related plants from the Polygonaceae family. Avoid using rhubarb for more than two weeks, because it may induce tolerance in the colon, melanosis coli, laxative dependence, pathological alterations to the colonic smooth muscles, and substantial loss of electrolytes. Avoid with atony, colitis, Crohn's disease, dehydration with electrolyte depletion, diarrhea, hemorrhoids, insufficient liver function, intestinal obstruction or ileus, irritable bowel syndrome, menstruation, pre-eclampsia, kidney disorders, ulcerative colitis, or urinary problems. Avoid handling rhubarb leaves, as they may cause contact dermatitis. Avoid rhubarb in children younger than 12 years old. Use cautiously with bleeding disorders, cardiac conditions, or constipation. Use cautiously with a history of kidney stones or thin or brittle bones. Use cautiously if taking antipsychotic drugs, anticoagulants, or oral drugs, herbs, or supplements (including calcium, iron, and zinc) with similar effects. Avoid if pregnant or breastfeeding.
Unclear or conflicting scientific evidence:
Acupuncture: Acupuncture is commonly used throughout the world. According to Chinese medicine theory, the human body contains a network of meridians, or energy pathways, through which vital energy, called "qi" (or "chi"), circulates. These pathways contain specific "points" that function like gates, allowing qi to flow through the body. Needles are inserted into these points to regulate the flow of qi. Illness and symptoms are thought to be caused by problems in the circulation of qi through the meridians. There has been limited research on acupuncture for the treatment of kidney disorders, such as gouty kidney damage. At this time, there is inadequate available evidence to recommend for or against the use of acupuncture for these indications. More research is needed.
Needles must be sterile in order to avoid disease transmission. Avoid with valvular heart disease, infections, bleeding disorders, medical conditions of unknown origin, and neurological disorders. Avoid on areas that have received radiation therapy and during pregnancy. Avoid if taking anticoagulants. Use cautiously with respiratory disease (e.g., asthma or emphysema). Use cautiously in elderly or medically compromised patients, diabetics, or those with a history of seizures. Avoid electroacupuncture with arrhythmia (irregular heartbeat) or in patients with pacemakers.
Alpha-lipoic acid: Alpha-lipoic acid (ALA) may provide some benefit in kidney disease, but there is not enough evidence to make a conclusion.
There are some human studies of alpha-lipoic acid (ALA) as a treatment for glaucoma, but there is not enough scientific evidence to make a recommendation at this time.
Avoid if allergic to ALA. Use cautiously with diabetes and thyroid diseases. Avoid with thiamine deficiency or alcoholism. Avoid if pregnant or breastfeeding.
Arabinogalactan: Although early results of arabinogalactan's effect in patients with chronic kidney failure are promising, more studies are needed.
Avoid if allergic or sensitive to arabinogalactan or larch. People who are exposed to arabinogalactan or larch dust may have irritation of the eyes, lungs, or skin. Use cautiously in people with diabetes, digestive problems, or immune system disorders, and in people who consume a diet that is high in fiber or low in galactose. Arabinogalactan should not be used during pregnancy or breastfeeding.
Arginine: Arginine, or L-arginine, is considered a semiessential amino acid, because although it is normally synthesized in sufficient amounts by the body, supplementation is sometimes required. Study results are mixed as to whether arginine as a therapy by itself directly helps with certain kidney diseases or kidney failure. Arginine may be a helpful adjunct for kidney disease-related conditions, such as anemia, in the elderly. Additional research is needed in this area.
Avoid if allergic to arginine, and in those with a history of stroke, or liver or kidney disease. Avoid if pregnant or breastfeeding. Use caution if taking blood-thinning drugs (like warfarin or Coumadin?) or blood pressure drugs, herbs, or supplements with similar effects. Blood potassium levels should be monitored. L-arginine may worsen symptoms of sickle cell disease. Caution is advised in patients taking prescription drugs to control sugar levels.
Astragalus: In traditional Chinese medicine (TCM), astragalus is commonly found in mixtures with other herbs. Western herbalists began using astragalus in the 1800s as an ingredient in various tonics. Several animal and human studies report that kidney damage from toxins and kidney failure may be improved with the use of astragalus-containing herbal mixtures. Overall, this research has been poorly designed and reported. Astragalus alone has not been well evaluated. Better-quality research is necessary before a conclusion can be made.
Avoid if allergic to astragalus, peas, or any related plants. Avoid with a history of Quillaja bark-induced asthma. Avoid if taking aspirin, aspirin products, or herbs or supplements with similar effects. Avoid with inflammation, fever, stroke, transplant, or autoimmune diseases. Stop use two weeks before and immediately after surgery or dental or diagnostic procedures with bleeding risks. Use cautiously with bleeding disorders, diabetes, high blood pressure, lipid disorders, or kidney disorders. Use cautiously if taking blood thinners, blood sugar drugs, diuretics, or herbs and supplements with similar effects. Avoid if pregnant or breastfeeding.
Berberine: Preliminary research indicates that berberine does not appear to reduce intraocular pressure in patients with glaucoma. The safety and effectiveness of berberine for this indication remains unclear. Additional research is needed in this area.
Avoid if allergic or hypersensitive to berberine, to plants that contain berberine, such as Hydrastis canadensis (goldenseal), Coptis chinensis (coptis or goldenthread), Berberis aquifolium (Oregon grape), Berberis vulgaris (barberry), and Berberis aristata (tree turmeric), or to members of the Berberidaceae family. Avoid in newborns, due to a potential for increase in free bilirubin, jaundice, and development of kernicterus. Use cautiously with cardiovascular disease, gastrointestinal disorders, hematologic disorders, leucopenia, kidney disease, liver disease, respiratory disorders, cancer, hypertyraminemia, diabetes, or hypotension. Use cautiously in children, due to lack of safety information. Use cautiously in individuals with high exposure to sunlight or artificial light. Use cautiously if taking for longer than eight weeks, due to theoretical changes in bacterial gut flora. Use cautiously if taking anticoagulants, antihypertensives, sedatives, anti-inflammatories, medications metabolized by CYP P450 3A4, including cyclosporin, or any prescription medications. Avoid if pregnant or breastfeeding.
Bilberry: Bilberry (Vaccinium myrtillus) is a close relative of the blueberry. Bilberry extract or products containing bilberry may reduce the risk for developing glaucoma. At this time, there is limited scientific information in this area.
Bilberry may increase bleeding in sensitive individuals, such as those taking blood-thinning medications, including warfarin (Coumadin?) and aspirin. Avoid if allergic to plants in the Ericaceae family or to anthocyanosides (a component of bilberry). Avoid with a history of low blood pressure, heart disease, bleeding, diabetes, blood clots, or stroke. Avoid if pregnant or breastfeeding. Stop use before surgeries or dental or diagnostic procedures involving blood tests.
Chitosan: Limited evidence suggests that chitosan may be useful during long-term hemodialysis for patients with kidney failure. Further studies are needed to determine its safety and efficacy.
Avoid if allergic or sensitive to chitosan or shellfish. Use cautiously with diabetes or bleeding disorders. Use cautiously if taking drugs, herbs, or supplements that lower blood sugar or increase the risk of bleeding. Chitosan may decrease absorption of fat and fat-soluble vitamins from foods. Chitosan is not recommended during pregnancy or breastfeeding.
Coenzyme Q10: Coenzyme Q10 (CoQ10), which is produced by the human body, is needed for the basic functioning of cells. Early research supports the use of CoQ10 supplements for the treatment of kidney failure. However, more research is needed before a firm conclusion can be made.
Reports on allergic reactions to CoQ10 supplements are lacking. However, there have been reports of rare cases of rash and itching after CoQ10 use. Stop use two weeks before and immediately after surgery or dental or diagnostic procedures that have bleeding risks. Use cautiously with a history of blood clots, diabetes, high blood pressure, heart attack, or stroke. Use cautiously if taking anticoagulants (blood thinners), antiplatelet drugs (e.g., aspirin, warfarin, or clopidogrel), blood pressure drugs, blood sugar drugs, cholesterol drugs, or thyroid drugs. Avoid if pregnant or breastfeeding.
Cordyceps: Cordyceps is a parasitic fungus that has been used as a tonic food in China and Tibet. In traditional Chinese medicine (TCM), cordyceps is used to strengthen kidney function. Studies indicate that cordyceps may improve kidney function in patients with chronic kidney failure or drug-induced nephrotoxicity. Early study results are promising. However, additional research is needed.
Avoid if allergic or hypersensitive to cordyceps, mold, or fungi. Use cautiously with diabetes, bleeding disorders, or prostate conditions. Use cautiously if taking immunosuppressants, anticoagulants, hormonal replacement therapy, or birth control pills. Avoid with myelogenous-type cancers. Avoid if pregnant or breastfeeding.
Danshen: Danshen (Salvia miltiorrhiza) is widely used in traditional Chinese medicine (TCM), often in combination with other herbs. Although early evidence is promising, it is unknown whether danshen is a safe and effective treatment for kidney disease. Early studies suggest that danshen may speed dialysis and ultrafiltration rates when added to dialysate solution. Although this evidence seems promising, it is not known whether danshen is safe for this use.
Danshen has been proposed as a possible therapy for glaucoma, but further studies are needed in humans before a clear conclusion can be drawn. A human clinical trial found that danshen (with and without other Chinese herbs) improved vision in individuals with glaucoma. Danshen should not be used in place of more proven therapies, and patients with glaucoma should be evaluated by a qualified eye care specialist.
Avoid if allergic or hypersensitive to danshen. Avoid if taking anticoagulants (blood thinners), digoxin, or hypotensive agents. Avoid with bleeding disorders and low blood pressure, and following cerebral ischemia (inadequate blood flow to the brain). Use cautiously if taking sedatives, hypolipidemics (blood pressure-lowering medications), cardiac glycosides, CYP-metabolized agents, nitrate ester, steroidal agents, or some anti-inflammatories (such as ibuprofen). Use cautiously with altered immune states, arrhythmia (irregular heartbeat), or compromised liver function, or with a history of glaucoma, stroke, or ulcers. Stop use two weeks before and immediately after surgery or dental or diagnostic procedures that have bleeding risks. Use cautiously if driving or operating heavy machinery. Avoid if pregnant or breastfeeding.
Ginkgo: Ginkgo (Ginkgo biloba) has been used in several clinical studies for the treatment of glaucoma. Ginkgo seems to improve retinal blood flow in the eye, decreasing damage to the retina.
Ginkgo may cause an increase in bleeding in sensitive individuals, including those taking blood-thinning drugs, such as warfarin (Coumadin?) or those with bleeding disorders. Avoid if allergic or hypersensitive to members of the Ginkgoaceae family. If allergic to mango rind, sumac, poison ivy, poison oak, or cashews, then an allergy to ginkgo is possible. Ginkgo should be stopped two weeks before surgical procedures. Ginkgo seeds are dangerous and should be avoided. Skin irritation and itching may also occur due to ginkgo allergies. Avoid supplemental doses if pregnant or breastfeeding.
Ginseng: Asian ginseng, or Panax ginseng, has been used for more than 2,000 years in Chinese medicine for various health conditions. For kidney dysfunction, a combination of herbs that included ginseng was not better than treatment with a conventional medicine plus traditional Chinese medicine. More research is needed, because the effects of ginseng alone are unknown.
Avoid ginseng with a known allergy to plants in the Araliaceae family. There has been a report of a life-threatening skin reaction, possibly caused by contaminants in ginseng formulations.
Kudzu: In China, the main herb-derived eyedrops for glaucoma are Pueraria flavonoids (compounds found in kudzu). The addition of puerarin to conventional drugs for glaucoma has yielded favorable results. Additional research is needed to confirm these results.
Use caution with anticoagulants, antiplatelet agents, blood pressure-lowering agents, hormones, antiarrhythmics, benzodiazepines, bisphosphonates, diabetes medications, drugs that are metabolized by the liver's cytochrome P450 enzymes, mecamylamine, neurologic agents, and methotrexate. Well-designed studies on the long-term effects of kudzu are currently unavailable. Avoid if allergic or hypersensitive to Pueraria lobata or members of the Fabaceae or Leguminosae family. Avoid if pregnant or breastfeeding.
Melatonin: Melatonin is a neurohormone (brain hormone) produced by the pineal gland from the amino acid tryptophan. Melatonin synthesis also occurs in the retina of most animals as well as in humans. The synthesis and release of melatonin are stimulated by darkness and suppressed by light, suggesting the involvement of melatonin in circadian rhythm and regulation of diverse body functions. Levels of melatonin in the blood are highest prior to bedtime. It has been theorized that due to effects on photoreceptor renewal in the eye, high doses of melatonin may increase intraocular pressure and the risk of glaucoma, age-related maculopathy and myopia, or retinal damage. However, there is preliminary clinical evidence that melatonin supplementation may actually decrease intraocular pressure in the eye, and it has been suggested as a possible therapy for glaucoma. Additional research is necessary in this area. Patients with glaucoma taking melatonin should be monitored by a healthcare professional.
Based on available studies and clinical use, melatonin is generally regarded as safe in recommended doses for short-term use. However, case reports raise concerns about risks of blood-clotting abnormalities (particularly in patients taking warfarin), increased risk of seizure, and disorientation with overdose. Melatonin supplementation should be avoided in women who are pregnant or attempting to become pregnant, based on possible hormonal effects, including alterations of pituitary-ovarian function and potential inhibition of ovulation or uterine contractions. High levels of melatonin during pregnancy may increase the risk of developmental disorders.
Prayer, distant healing: Prayer can be defined as a "reverent petition," the act of asking for something while aiming to connect with God or another object of worship. Prayer on behalf of the ill or dying has played a prominent role throughout history and across cultures. Metaphysical explanations and beliefs often underlie the practice of prayer. Preliminary research shows positive trends associated with prayer and spirituality in patients with end-stage kidney disease who are coping after a kidney transplant. Further research is needed before conclusions can be drawn.
Prayer is not recommended as the sole treatment approach for potentially serious medical conditions, and it should not delay the time it takes to consult with a healthcare professional or receive established therapies. Sometimes religious beliefs come into conflict with standard medical approaches and require an open dialog between patients and caregivers.
Psychotherapy: Psychotherapy is an interactive process between a person and a qualified mental health professional. The patient explores thoughts, feelings, and behaviors to help with problem solving. Although individual and group psychotherapy may decrease depression associated with a kidney transplant, individual therapy may be more effective than group therapy. More research is needed in this area.
Psychotherapy cannot always fix mental or emotional conditions. Psychiatric drugs are sometimes needed. In some cases, symptoms may worsen if the proper medication is not taken. Not all therapists are qualified to work with all problems. Use cautiously with serious mental illness or some medical conditions, because some forms of psychotherapy may stir up strong emotional feelings and expressions.
Soy: Due to limited human research, there is not enough evidence to recommend for or against the use of soy in the treatment of kidney diseases, such as chronic renal failure. Patients with kidney disease should speak to their healthcare providers about recommended amounts of dietary protein, as soy is a high-protein food.
Avoid if allergic to soy. Breathing problems and rash may occur in sensitive people. Soy, as a part of the regular diet, is traditionally considered to be safe during pregnancy and breastfeeding, but there are limited scientific data. The effects of high doses of soy or soy isoflavones in humans are not clear and therefore are not recommended. There has been a case report of vitamin D deficiency rickets in an infant nursed with soybean milk (not specifically designed for infants). People who experience colitis (intestinal irritation) from cow's milk may experience intestinal damage or diarrhea from soy. It is unknown if soy or soy isoflavones share the same side effects as estrogens (e.g., increased risk of blood clots). The use of soy is often discouraged in patients with hormone-sensitive cancers, such as breast, ovarian, or prostate cancer. Other hormone-sensitive conditions, such as endometriosis, may also be worsened. Patients taking blood-thinning drugs (e.g., warfarin) should check with their doctors and/or pharmacists before taking soy supplementation.
Thymus extract: Well-designed clinical trials are required before thymus extract can be recommended in the treatment of glaucoma.
Avoid if allergic or hypersensitive to thymus extracts. Use bovine thymus extract supplements cautiously, due to the potential for exposure to the virus that causes "mad cow disease." Avoid use with an organ transplant or other forms of allografts or xenografts. Avoid if receiving immunosuppressive or hormonal therapy. Avoid with thymic tumors, myasthenia gravis (a neuromuscular disorder), or untreated hypothyroidism. Avoid if pregnant or breastfeeding.
Zinc: Preliminary research suggests that zinc may improve uremia in patients with kidney disorders. Further research is needed to confirm the effectiveness of zinc for kidney function. Zinc supplementation may be recommended only in patients with proven zinc deficiency, whereas its use for all chronic renal failure patients is questionable.
Zinc is generally considered safe when taken at the recommended dosages. Avoid zinc chloride, as studies have not been done on its safety or effectiveness. While zinc appears safe during pregnancy in amounts lower than the established upper intake level, caution should be used, as studies cannot rule out the possibility of harm to the fetus.

Prevention

General: Because some cases of nail patella syndrome (NPS) occur randomly with no family history of the disorder, there is no effective way to prevent it. Appropriate treatment and regular medical checkups are essential to help reduce the risk of serious complications.
Genetic testing: Prenatal DNA testing may be performed if there is a family history of NPS. However, testing is not widely available for this disorder. Prenatal testing for this disorder is controversial, because genetic testing cannot predict how severe the disorder will be, and there are serious risks, including miscarriage. Therefore, patients should discuss the potential health benefits and risks associated with these procedures before making any medical decisions.
Genetic counseling: Before and after genetic testing, it is recommended that people meet with genetic counselors. These professionals can help patients understand the risks of having a child with NPS. A genetic counselor can also explain the different types of genetic tests, including their potential risks and benefits, and help patients understand the results and limitations of their tests.
Regular checkups: People who are diagnosed with NPS should regularly visit their doctors in order to prevent serious complications, such as glaucoma and kidney disease. It is recommended that adults visit their eye doctors every 1-2 years to check for signs for glaucoma.

Author information

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography

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Buddin D, Loomis C, Shwayder T, et al. What syndrome is this? Nail-patella syndrome. Pediatr Dermatol. 2002 Sep-Oct;19(5):454-6.
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Causes

Genetic mutation: People with nail patella syndrome (NPS) are born with a mutated, or abnormal, LIM-homeodomain(LMX1B) gene. When this gene is mutated, it causes the nails, kneecaps, and long bones in the arms and legs to develop abnormally.
Inheritance: The mutated LMX1B gene that causes NPS is inherited, or passed down among family members, in about 80% of cases. Each gene has two variations, called alleles. One allele is inherited from each parent. When NPS is inherited, the genetic mutation is passed down as an autosomal dominant trait. This means that just one copy of the mutated gene is needed for the disorder to occur. In other words, if one parent has NPS, there is a 50% chance that his or her child will have the disorder. If both parents have NPS, there is a 75% chance that the child will inherit the condition.
Random occurrence: About 20% of cases are not inherited. Instead, the genetic mutation occurs randomly during the development of the egg, sperm, or embryo. This means that 20% of people with NPS have no family history of the disorder. If a person randomly develops the mutated LMX1B gene, he or she can then pass the disorder onto his or her children.

Risk factors

Children with family histories of nail patella syndrome have an increased risk of having the disorder. If one parent has the disorder, there is a 50% risk that his or her child will have the disorder. If both parents have the disorder, there is a 75% chance that their child will have the disorder. However, about 20% of cases occur randomly, without a family history of the disorder.