Chorioretinal coloboma with cerebellar vermis aplasia

Related Terms

Arima syndrome, cerebello-oculo-hepato-renal syndrome, cerebro-oculo-hepato-renal syndrome, chorioretinal coloboma with cerebellar vermis aplasia, coloboma chorioretinal with cerebellar vermis aplasia, DAS, Dekaban Arima syndrome, Joubert syndrome with bilateral chorioretinal coloboma, Joubert-related cerebello-oculo-renal syndrome.

Background

Dekaban-Arima syndrome (DAS), also known as chorioretinal coloboma with cerebellar vermis aplasia, is a rare medical condition, often recognized at birth, that primarily affects the eyes and brain. Eye problems associated with this disorder include coloboma, or small holes in the retina and in the tissue between the retina and the lens of the eye. Brain abnormalities include the underdevelopment or absence of the cerebellar vermis, a part of the brain. The cerebellar vermis, which lies between the right and left halves of the brain, is responsible for balance and coordination. Other symptoms may include cysts in the kidneys and the development of fibrous tissue in the liver.
Many researchers believe that DAS is related to a condition called Joubert syndrome, which is also characterized by underdevelopment or absence of the cerebellar vermis. Some researchers believe that people with Joubert syndrome can be divided into two groups: those with retinal problems (DAS) and those without.
DAS is inherited, or passed down from parents to children, as an autosomal recessive trait. This means that two copies of the defective gene must be inherited for the disease to appear. The exact genetic mutation or defect that causes this condition is unknown.
DAS is extremely rare, but its exact prevalence is not known. While there is little information regarding the lifespan of people with DAS, the scientific literature does suggest that many individuals with DAS die from complications associated with kidney disease, such as kidney failure.
There is no cure for DAS. Treatment aims to reduce symptoms and prevent complications. Treatments may include speech-language therapy, physical therapy, occupational therapy, behavioral therapy, and visual aids. Severe kidney disease may be treated by dialysis and ultimately transplantation.

Signs and symptoms

General: Dekaban-Arima syndrome (DAS) is a rare medical condition, often recognized at birth, that primarily affects the eyes and brain.
Brain: A key feature of DAS is the absence or underdevelopment of the cerebellar vermis, the part of the brain that regulates balance and coordination. The cerebellar vermis is found between the right and left sides of the cerebellum, a part of the brain below the cerebrum. People with DAS may therefore appear uncoordinated, may not be able to stand or walk unassisted until later in life, and may have frequent falls. In some people with DAS, the brain stem is abnormally small and may resemble a tooth, in what physicians call the molar tooth sign.
Eyes: People with DAS tend to have colobomas, or small holes or gaps in the retina and in the tissue between the retina and the lens of the eye. This may cause visual impairment or complete blindness. Other eye symptoms may include nystagmus (involuntary eye movements) and ptosis (droopy eyelids).
Growth and development: People with DAS may have developmental delays, such as delayed achievement of fine and gross motor skills, speech problems, and short stature. Some people with DAS have intellectual disabilities that affect behavior, learning, and the ability to care for oneself.
Kidneys: People with DAS may have progressive kidney disease characterized by the development of cysts. People with DAS may not be able to concentrate urine and therefore may produce a high volume of urine throughout the day.
Liver: People with DAS may have decreased liver function from fibrosis (the development of scar tissue). Fibrosis itself does not cause symptoms, but secondary symptoms may include high blood pressure in the portal vein, enlarged spleen, bleeding in the digestive tract, dilated blood vessels in the digestive tract that are prone to rupture and bleeding, and brain disease caused by failure of the liver to remove waste products from the body.
Muscles: People with DAS tend to have low muscle tone, muscular weakness, and decreased reflexes.
Other: People with DAS may have abnormally increased thirst because of increased fluid loss, hunger, and episodes of hyperventilation. They may also repeatedly stick their tongues out.

Diagnosis

General: In addition to a complete physical exam and family history, individuals suspected of having Dekaban-Arima syndrome (DAS) should receive a thorough neurological evaluation.
Eye exam: In addition to a thorough eye exam, including a slit-lamp examination, which looks at structures at the front of the eye, individuals suspected of having DAS or any condition related to Joubert syndrome should receive an electroretinogram (ERG). This test evaluates the function of the retina and can diagnose problems with this part of the eye. Before an ERG, special drops are placed in the eye to dilate the pupil, and the patient sits in a dark room for about 30 minutes to allow the eye to adapt. After the eyes have adapted to the darkness, an anesthetic is applied, a special contact lens is placed on the eye, and brief flashes of light are introduced. By measuring how much light enters the eye and how much electricity is generated by the rod and cone cells of the retina, an ophthalmologist can assess the function of the eyes. An ERG takes a total of about 45 minutes.
Genetic testing: Because the exact genetic mutation or defect that causes DAS is unknown, genetic testing for this condition is currently unavailable. Genetic testing for the genes that cause several other related disorders, such as Joubert syndrome, may assist in the diagnosis of DAS by ruling out related conditions.
Imaging studies: Magnetic resonance imaging (MRI) of the brain can identify underdevelopment or absence of the cerebellar vermis, the part of the brain between the right and left halves of the cerebellum, which is below the cerebrum. In addition, MRI may reveal the molar tooth sign, in which an underdeveloped brain stem resembles a molar tooth. MRI uses a magnetic field, radio waves, and a computer to produce pictures of internal structures of the body, which can be printed or observed on a computer screen. Ultrasound, a noninvasive procedure that uses sound waves to create an image of internal organs, can identify the presence of cysts in the kidneys of individuals with DAS. Ultrasound may also be useful in identifying the presence of kidney cysts in a developing fetus.

Complications

Kidney failure: Because of progressively worsening cystic kidney disease, people with Dekaban-Arima syndrome (DAS) may experience kidney failure. Kidney failure can lead to serious problems such as uremia (urine in the blood), and it can be life-threatening if not treated. While there is little information regarding the lifespan of people with DAS, the scientific literature does suggest that many individuals with DAS die from complications associated with kidney disease, such as kidney failure.
Liver failure: Progressive development of scar tissue in the liver may eventually lead to cirrhosis and liver failure in people with DAS. Liver fibrosis may be associated with high blood pressure in the portal vein, enlarged spleen, bleeding in the digestive tract, dilated blood vessels in the digestive tract that are prone to rupture and bleeding, and brain disease caused by failure of the liver to remove waste products from the body.
Visual impairment: Colobomas (small holes or gaps in the retina), nystagmus (involuntary eye movements), and ptosis (droopy eyelids) may lead to visual impairment or total blindness.

Treatment

General: There is no cure for Dekaban-Arima syndrome (DAS). Treatment aims to reduce the severity of symptoms and prevent complications.
Behavioral therapy: Several different types of behavioral therapy are available to help people with DAS improve their communication and social skills, learning abilities, and adaptive behaviors.
Dialysis: When the kidneys begin to fail, patients can undergo dialysis to restore the filtering function of the kidneys. In hemodialysis, a patient's blood is circulated into an external filter and cleaned. The filtered blood is then returned to the body. In peritoneal dialysis, a fluid containing dextrose is introduced into the abdomen through a tube. This solution absorbs the wastes in the body and is then removed.
Education: Patients with DAS who have intellectual disabilities must have access to education tailored to their specific strengths and weaknesses. According to the Individuals with Disabilities Education Act, all children with disabilities must receive free and appropriate education. This law states that staff members of the patient's school must consult with the patient's parents or caregivers to design and write an individualized education plan based on the child's needs. The school faculty must document the child's progress in order to ensure that the child's needs are being met.
Educational programs vary among patients, depending on the child's specific learning disabilities. In general, most experts believe that children with disabilities should be educated alongside their nondisabled peers. The idea is that nondisabled students will help the patient learn appropriate behavioral, social, and language skills. Therefore, some DAS patients are educated in mainstream classrooms. Other patients attend public schools but take special education classes. Others attend specialized schools designed to teach children with disabilities.
Occupational therapy: Patients with DAS may benefit from occupational therapy. During sessions, a therapist helps the child learn the skills needed to perform basic daily tasks, such as eating, dressing, and communicating with others. Some patients work with therapists who specialize in disorders and disabilities, including DAS. Parents and caregivers can ask their child's pediatrician to recommend a therapist.
Physical therapy: Patients with DAS may benefit from seeing a physical therapist, who can help patients maintain muscle tone and keep muscles strong and flexible by performing different exercises. A speech therapist may help a patient retrain the tongue and facial muscles to improve speech.
Speech-language therapy: Some patients with DAS may benefit from speech-language therapy, because these individuals often develop communication skills more slowly than normal. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or in a classroom, to help the patient improve speech, language, and communication skills. Programs are tailored to the patient's individual needs. Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start off simple and become more complex as therapy continues. For instance, the therapist may ask the patient to name objects, tell stories, or explain the purpose of an object.
Transplantation: Some patients who experience kidney or liver failure may undergo kidney or liver transplantation. However, transplantation is associated with complications, including infection and the possibility of rejection of the new organ. To reduce the chance of rejection, patients may need to take immunosuppressant drugs.
Visual aids: Various visual aids may be used to meet the individual needs of people with DAS. These may include large-print books and other reading materials, high-contrast written materials, hand-held monoculars, video enlargement machines, and other types of magnifiers. In addition, children and adults attending school may benefit from a printed copy of the teacher's board notes. People with DAS may also benefit from various specialized computer programs that address their individual needs.

Integrative therapies

Note: Currently there is a lack of scientific evidence on the use of integrative therapies for the treatment or prevention of Dekaban-Arima syndrome. The therapies listed below have been studied for related conditions such as kidney failure, cirrhosis, and liver failure. The integrative therapies listed below should be used only under the supervision of a qualified healthcare provider and should not be used in replacement of other proven therapies.
Good scientific evidence:
Milk thistle: Multiple studies from Europe suggest benefits of oral milk thistle for cirrhosis. In experiments up to five years long, milk thistle has improved liver function and decreased the number of deaths that occur in cirrhotic patients. Although these results are promising, most studies have been poorly designed. Better research is necessary before a strong conclusion can be made.
Caution is advised if there is a history of allergy to plants in the Compositae/Asteraceae (aster) family, daisies, artichoke, common thistle, or kiwi. Use cautiously with diabetes. Avoid if pregnant or breastfeeding.
Probiotics: Liver cirrhosis may be accompanied by an imbalance of intestinal bacterial flora. Probiotic supplementation in cirrhosis patients has been found to beneficially reduce the levels of fecal acidity (pH) and fecal and blood ammonia.
Probiotics are generally considered safe and well tolerated. Avoid if allergic or hypersensitive to probiotics. Use cautiously if lactose intolerant.
Rhubarb: A traditional Chinese medicine, rhubarb has shown positive effects on renal (kidney) failure in the lab and seems promising in human studies. 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 consecutive 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, renal disorders, ulcerative colitis, or urinary problems. Avoid handling rhubarb leaves, as they may cause contact dermatitis. Avoid rhubarb in children under age 12, because of possible water depletion. Use cautiously with anticoagulation therapy, bleeding disorders, cardiac conditions, constipation, a history of kidney stones, or thin or brittle bones. Use cautiously if taking antipsychotic drugs or oral drugs, herbs, or supplements (including calcium, iron, and zinc). Avoid if pregnant or breastfeeding.
Unclear or conflicting scientific evidence:
Acupuncture: The practice of acupuncture originated in China 5,000 years ago. Today it is widely used throughout the world and is one of the main pillars of Chinese medicine. There has been limited research on acupuncture for kidney disorders such as gouty renal damage. There is currently not adequate available evidence to recommend for or against acupuncture in these conditions.
Needles must be sterile in order to avoid disease transmission. Avoid with valvular heart disease, infections, and bleeding disorders, or with anticoagulants (drugs that may increase the risk of bleeding), medical conditions of unknown origin, and neurological disorders. Avoid on areas that have received radiation therapy and during pregnancy. Use cautiously with pulmonary disease such as asthma or emphysema. Use cautiously in elderly or medically compromised patients and in people with diabetes or a history of seizures. Avoid electroacupuncture with arrhythmia (irregular heartbeat) or in patients with pacemakers.
Arabinogalactan: Arabinogalactans belong to a group of carbohydrates called polysaccharides. Dietary arabinogalactan comes from the wood of the larch tree (Larix species) and is approved for use as a dietary fiber by the U.S. Food and Drug Administration (FDA). Although early results of studies on the effect of arabinogalactan 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 high in fiber or low in galactose. Arabinogalactan should not be used during pregnancy or breastfeeding.
Astragalus: Astragalus products are derived from the roots of Astragalus membranaceus or related species native to China. Several animal and human studies report that kidney and liver damage from toxins, kidney failure, and hepatitis B and C 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 drawn.
Avoid if allergic to astragalus, peas, or any related plants, or with a history of Quillaja bark-induced asthma. Avoid with aspirin or aspirin products or herbs or supplements with similar effects. Avoid with inflammation or fever, stroke, organ transplant, or autoimmune diseases such as HIV/AIDS. Stop use two weeks before surgery or dental or diagnostic procedures with a risk of bleeding, and avoid use immediately following these procedures. Use cautiously with bleeding disorders, diabetes, high blood pressure, and lipid or kidney disorders. Use cautiously with blood thinners, blood sugar drugs, or diuretics, or herbs and supplements with similar effects. Avoid if pregnant or breastfeeding.
Capers: Capers (Capparis spinosa) traditionally have been used for gas, liver function, heart disease, kidney disorders, parasitic worm infections, anemia, arthritis, and gout, and as a tonic. There is limited evidence of the effect of capers alone on cirrhosis. Additional studies are needed.
Capers are generally considered safe. Avoid with allergy or sensitivity to capers or mustard oil. There are limited reports of side effects with capers. Use cautiously with diabetes or low blood sugar or in those taking drugs, herbs, or supplements that lower blood sugar levels. Use cautiously with low blood pressure or if taking drugs, herbs, or supplements that lower blood pressure. Use cautiously in patients prone to iron overload. Use cautiously if taking diuretics. Avoid or use cautiously if pregnant or breastfeeding.
Chelation therapy: EDTA chelation became well known during the 1950s, when it was proposed as a method to cleanse the blood and blood vessel walls of toxins and minerals. The technique involves infusing a chemical called ethylene diamine tetraacetic acid (EDTA) into the blood. The therapy is sometimes given by mouth, and occasionally other chemicals may be used. Repeated chelation therapy may improve kidney function and slow the progression of kidney insufficiency. Further research is needed to confirm these results.
Avoid with heart disease, liver disease, kidney disease, immune system disorders, and bleeding disorders, or if taking drugs that increase the risk of bleeding. Avoid if pregnant or breastfeeding.
Chitosan: Chitosan comes from chitin, which is part of the outer shell-like structure of insects, spiders, and crustaceans. Limited evidence suggests that chitosan may be useful during long-term hemodialysis. Further studies are needed to determine 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 levels 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) is produced naturally in the human body and is necessary for the basic functioning of cells. There are initial data to support the use of CoQ10 in the treatment of kidney (renal) failure. More research is needed before a conclusion can be made.
There have been no reported allergic reactions associated with Coenzyme Q10 supplements, although rash and itching have been reported in some rare cases. Stop use two weeks before surgery or dental or diagnostic procedures with a risk of bleeding, and do not use immediately following these procedures. Use caution with a history of blood clots, diabetes, high blood pressure, heart attack, or stroke, or with anticoagulants (blood thinners) or antiplatelet drugs such as aspirin, warfarin, or clopidogrel (e.g., Plavix?), or blood pressure, blood sugar, cholesterol, or thyroid drugs. Avoid if pregnant or breastfeeding.
Cordyceps: Cordyceps sinensis, the Cordyceps species most widely used as a dietary supplement, naturally grows on the back of the larvae of a caterpillar from the moth Hepialus armoricanus Oberthur found mainly in China, Nepal, and Tibet. In traditional Chinese medicine, Cordyceps is used to strengthen kidney function. Two studies indicate that Cordyceps may improve renal function in patients with chronic renal failure. More studies are needed to confirm these findings.
Avoid if allergic or hypersensitive to Cordyceps, mold, or fungi. Use cautiously with diabetes, bleeding disorders, and prostate conditions, or if taking anticoagulant medications, immunosuppressive medications, hormone replacement therapy, or oral contraceptives. Avoid with myelogenous type cancers. Avoid if pregnant or breastfeeding.
Creatine: Creatine is naturally made in the human body from amino acids, primarily in the kidney and liver, and transported in the blood for use by muscles. Approximately 95% of the body's total creatine content is located in skeletal muscle. Early studies suggest that creatine does not lower homocysteine levels in chronic hemodialysis patients. However, these patients were also using vitamin B12 and folate. Muscle cramps are common complications of hemodialysis, and creatine may offer some benefit for this side effect. However, studies in which creatine alone is compared with placebo are needed.
Avoid if allergic to creatine or with diuretics such as hydrochlorothiazide and furosemide (Lasix?). Use caution in those with asthma, diabetes, gout, kidney, liver or muscle problems, stroke, or a history of these conditions. Avoid dehydration. Avoid if pregnant or breastfeeding.
Danshen: Danshen (Salvia miltiorrhiza) is widely used in traditional Chinese medicine, often in combination with other herbs. Although early evidence is promising, it is not known whether danshen is safe for use in kidney disease. Danshen injection may be helpful for recovery of kidney function after kidney transplant. Further research is needed to confirm these results. Some studies suggest that danshen may provide benefits for treating liver diseases such as cirrhosis, fibrosis, and chronic hepatitis B. However, it is unclear whether there are any clinically significant effects of danshen in patients with liver disease.
Avoid if allergic or hypersensitive to danshen. Use cautiously with sedatives or hypolipidemics, cardiac glycosides, CYP-metabolized agents, nitrate ester, steroidal agents, and some anti-inflammatories (e.g., ibuprofen). Use cautiously with altered immune states, arrhythmia, compromised liver function, or a history of glaucoma, stroke, or ulcers. Stop use two weeks before surgery or dental or diagnostic procedures with bleeding risk, and do not use immediately after these procedures. Use cautiously if driving or operating heavy machinery. Avoid if taking anticoagulants (blood thinners), digoxin, hypotensives (including ACE inhibitors such as captopril), or Sophora subprostrata root or herba Serissae. Avoid with bleeding disorders, low blood pressure, and following cerebral ischemia. Avoid if pregnant or breastfeeding.
L-carnitine: In humans, L-carnitine is synthesized in the liver, kidney, and brain and actively transported to other areas of the body. L-carnitine taken by mouth has been used in patients receiving continuous ambulatory peritoneal dialysis (CAPD) but does not appear to lead to the resolution of hypertriglyceridemia. Additional studies are needed before a firm recommendation can be made. Although preliminary evidence is promising, there is insufficient available evidence to recommend for or against the use of L-carnitine for hemodialysis patients.
Although early evidence appears promising, there is at present insufficient evidence to recommend carnitine in the treatment of liver cirrhosis.
Avoid with known allergy or hypersensitivity to carnitine. Use cautiously with peripheral vascular disease, hypertension (high blood pressure), alcohol-induced liver cirrhosis, and diabetes. Use cautiously in low-birthweight infants and in individuals on hemodialysis. Use cautiously if taking anticoagulants (blood thinners), beta-blockers, or calcium channel blockers. Avoid if pregnant or breastfeeding.
Liver extract: Liver extract and desiccated (dried) liver have been marketed as iron supplements for more than a century. The extract is processed cow or pig liver that may be either a freeze-dried, brownish powder or a concentrated liquid that has had most of the fat and cholesterol removed. Liver extract seems to stimulate liver function. In two studies, liver extract increased the liver function of patients with impaired liver function. More research is needed to compare liver extract with other hepatostimulatory treatments.
Avoid if allergic or hypersensitive to liver extract or its constituents. Use cautiously if taking antacids or with acid reflux. Use cautiously with clotting disorders, compromised immune function, or abnormal iron levels. Use cautiously if taking antihypercholesterolemic drugs (cholesterol-lowering agents), antiviral agents, especially interferon, or any agents for cancer. Use liver extract cautiously, as raw liver may contain liver flukes or the bacterium Vibrio fetus. Use cautiously in hepatopathic patients with a reduced human growth hormone metabolic clearance rate. Avoid liver extract with iron metabolism disorders or iron shortage disorders, such as hemochromatosis. Avoid liver extract from countries where bovine spongiform encephalitis (BSE or "mad cow disease") has been reported. Avoid if sensitive to liver extract or any of its components, as liver extract therapy has caused severe anaphylactic shock. Avoid if pregnant or breastfeeding.
Prayer: Prayer may 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. Preliminary research shows positive trends associated with prayer and spirituality in patients with end-stage renal disease who are coping after 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 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. In one clinical study, patients certain that they were receiving intercessory prayer had a higher incidence of complications following cardiac bypass surgery than those who did not know they were being prayed for.
Psychotherapy: Psychotherapy is an interactive process between an individual and a qualified mental health professional, such as a psychiatrist, psychologist, clinical social worker, licensed counselor, or other trained practitioner. Its purpose is the exploration of thoughts, feelings, and behaviors for the purpose of problem solving or achieving higher levels of functioning. Although both 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 by itself, and sometimes psychiatric drugs are needed. In some cases, symptoms may get worse 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 expression. Psychotherapy may help with postpartum depression, but is not a substitute for medication that may be needed in severe cases.
SAMe: SAMe was first discovered in 1953 by a researcher named Cantoni. It is formed in the body from methionine and adenosine triphosphate in a reaction catalyzed by methionine adenosyltransferase. Preliminary evidence suggests that SAMe may normalize levels of liver enzymes in individuals with liver disease. Additional research is needed in this area.
Avoid if allergic or hypersensitive to SAMe. Use cautiously with diabetes and anxiety disorders, or in women in their third trimester of pregnancy. Avoid with bipolar disorder. Avoid during the first trimester of pregnancy or if breastfeeding.
Sea buckthorn: Sea buckthorn (Hippophae rhamnoides) is found throughout Europe and Asia, particularly eastern Europe and central Asia. The plant's orange fruit and the oil from its pulp and seeds have been used traditionally for skin conditions, coughing, phlegm reduction, and digestive disorders. Sea buckthorn extract may improve liver health in people with cirrhosis. Although the results are intriguing, additional higher-quality research is needed in this area.
Avoid if allergic or hypersensitive to sea buckthorn, its constituents, or members of the Elaeagnaceae family. Use cautiously if taking angiotensin-converting enzyme (ACE) inhibitors, anticoagulants and antiplatelet agents (blood thinners), antineoplastic agents (anticancer agents), cyclophosphamide, or farmorubicin. Avoid higher doses than common food amounts if pregnant or breastfeeding.
Selenium: Selenium is a trace mineral found in soil, water, and some foods. It is an essential element in several metabolic pathways. The benefits of selenium supplementation in dialysis patients remain unclear. Some methods of dialysis may lower plasma selenium levels. Selenium supplementation has been studied in various liver disorders, including hepatitis, cirrhosis, and liver cancer, with mixed results.
Avoid if allergic or sensitive to products containing selenium. Avoid with history of nonmelanoma skin cancer. Selenium is generally regarded as safe for pregnant or breastfeeding women. However, animal research reports that large doses of selenium may lead to birth defects.
Soy: Soy is a subtropical plant, native to southeastern Asia. Soy and components of soy called isoflavones have been studied scientifically for numerous health conditions. There is not enough evidence from human studies to recommend for or against the use of soy in the treatment of kidney diseases such as nephrotic syndrome. People with kidney disease should speak to their healthcare providers about recommended amounts of dietary protein, and they should bear in mind that 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 not recommended. There has been a case report of vitamin D deficiency rickets in an infant nursed with soybean milk that was not specifically designed for use in infants. People who experience colitis (intestinal irritation) from cow's milk may experience intestinal damage or diarrhea from soy. It is not known whether soy or soy isoflavones share the same side effects as estrogens, such as increased risk of blood clots. The use of soy is often discouraged in patients with hormone-sensitive cancers, such as breast, ovarian, or uterine cancer. Other hormone-sensitive conditions such as endometriosis may also be worsened. Patients taking blood-thinning drugs such as warfarin should check with a doctor and pharmacist before taking soy supplementation.
Taurine: Taurine, or 2-aminoethanesulfonic acid, was originally discovered in ox (Bos taurus) bile and was named after taurus, the bull. A nonessential amino acid-like compound, taurine is found in high abundance in the tissues of many animals, especially sea animals, and in much lower concentrations in plants, fungi, and some bacteria. Current evidence in support of taurine in liver disease is minimal, and additional studies with positive results are needed before a firm conclusion can be made.
Taurine is an amino acid, and it is unlikely that there are allergies related to this constituent. However, allergies may occur from multi-ingredient products that contain taurine. Use cautiously in patients with high cholesterol, low blood pressure, coagulation disorders, the potential for mania, or epilepsy. Avoid consumption of energy drinks containing taurine, caffeine, glucuronolactone, and B vitamins prior to consuming alcohol or exercising. Use cautiously if pregnant or breastfeeding, because taurine is a natural component of breast milk.
Thymus extract: The thymus is a lobular gland located under the breastbone near the thyroid gland. It reaches its maximum size during early childhood and plays a large role in immune function. More well-designed clinical trials are required in the area of non-hepatitis B and hepatitis B liver disorders before recommendations can be made involving thymus extract for this use.
Avoid if allergic or hypersensitive to thymus extracts. Use bovine thymus extract supplements cautiously, because of the potential for exposure to the prion that causes bovine spongiform encephalopathy or "mad cow disease." Avoid use with an organ transplant or other forms of allografts or xenografts. Avoid if receiving immunosuppressive therapy; with thymic tumors, myasthenia gravis (a neuromuscular disorder), or untreated hypothyroidism; or if taking hormonal therapies. Avoid if pregnant or breastfeeding; thymic extract increases human sperm motility and progression.
Traditional Chinese medicine (TCM):Chinese medicine is a broad term encompassing many different modalities and traditions of healing. TCM may provide liver protection, however, more studies are needed before conclusions can be made.
Side effects depend on the type of TCM practices. Reported side effects have included acute hepatitis, blood disorders,death, dizziness, and headache. A qualified healthcare professional, including a pharmacist, should be consulted for recommendations of safe herbal products. Avoid ma huang with caffeine.
Turmeric: The rhizome (root) of turmeric (Curcuma longa Linn.) has long been used in traditional Asian medicine to treat gastrointestinal upset, arthritic pain, and "low energy." In traditional Indian Ayurvedic medicine, turmeric has been used to tone the liver. Early research suggests that turmeric may have a protective effect on the liver, but more research is needed before any conclusions can be made.
Avoid if allergic or hypersensitive to turmeric, curcumin, yellow food colorings, or plants belonging to the Zingiberaceae (ginger) family. Use cautiously in patients with a history of bleeding disorders, immune system deficiencies, liver disease, diabetes, hypoglycemia, or gallstones. Use cautiously with blood thinners, such as warfarin (Coumadin?), and blood sugar-altering medications. Avoid in medicinal amounts if pregnant or breastfeeding. Turmeric should be stopped prior to scheduled surgery.
Zinc: Early studies show potential improvement in uremic patients taking zinc supplements. Zinc supplementation may be recommended only in patients with proven zinc deficiency, but for all chronic renal failure patients, it is questionable. Zinc supplementation did not improve the nutritional status of patients on continuous ambulatory peritoneal dialysis (CAPD) in one well-designed trial. Hepatic encephalopathy is abnormal brain function caused by passage of toxic substances from the liver to the blood. Early high-quality trials of zinc for this indication have yielded conflicting results. Further research is needed to confirm these findings.
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. Avoid with kidney disease. Use cautiously if pregnant or breastfeeding.
Fair negative scientific evidence:
Iridology: Iridology is the study of the iris, the colored part of the eye, with the intention of gaining information about underlying diseases. Naturopaths and other practitioners may use this technique. Sufficient evidence supporting iridology as a diagnostic tool in kidney disease is currently lacking. A preliminary study submitted photographs of the irises of kidney disease patients to practicing iridologists and found no evidence of accurate detection of kidney disease.
Iridology should not be used alone to diagnose disease. Studies of iridology have reported incorrect diagnoses, and potentially severe medical problems may thus go undiagnosed. In addition, research suggests that iridology may lead to inappropriate treatment. Iridology is therefore not recommended as the sole method of diagnosis or treatment for any condition.

Prevention

Because Dekaban-Arima syndrome (DAS) is inherited, there are no known ways to prevent the disorder. Because the exact genetic mutation that causes DAS is currently unknown, genetic testing is not available to detect the condition in a developing fetus. Genetic testing for the genes that cause several other related disorders, such as Joubert syndrome, is available. Prospective parents with DAS or with a family history of the disorder may benefit from genetic counseling to discuss the risks of passing the disorder on to their children.

Author information

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

Bibliography

Braddock SR, Henley KM, Maria BL. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am J Med Genet A. 2007 Dec 15;143A(24):3235-42.
Elmali M, Ozmen Z, Ceyhun M, et al. Joubert syndrome with atrial septal defect and persistent left superior vena cava. Diagn Interv Radiol. 2007 Jun;13(2):94-6.
Gleeson JG, Keeler LC, Parisi MA, et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 2004 Mar 1;125A(2):125-34; discussion 117. Comment in: Am J Med Genet A. 2005 Aug 1;136A(4):416-7.
Graber D, Antignac C, Deschenes G, et al. [Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes] [Article in French] Arch Pediatr. 2001 Feb;8(2):186-90.
Joubert Syndrome Foundation & Related Cerebellar Disorders. .
Katase K, Hashizume K, Yoneda T, et al. [A case of arima syndrome (cerebro-oculo-hepato-renal syndrome) in long-term survival with hemodialysis] [Article in Japanese] Nippon Jinzo Gakkai Shi. 2006;48(8):731-5.
Kumada S, Hayashi M, Arima K, et al. Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. Am J Med Genet A. 2004 Nov 15;131(1):71-6.
Laverda AM, Saia OS, Drigo P, et al. Choroidoretinal coloboma and Joubert syndrome: a nonrandom association. J. Pediat. 105: 282-284, 1984.
Lewis SME, Roberts EA, Marcon MA, et al. Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. Am J Med Genet. 52: 419-426, 1994.
Lindhout D, Barth PG, Valk J, et al. The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr. 1980 Aug;134(2):173-6.
Natural Standard: The Authority on Integrative Medicine. .
Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-L?ken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet. 1999 Oct 29;86(5):459-69.
Wakakura M, Hatono N, Tateno S. Cerebello-oculo-hepato-renal syndrome with possible mitochondrial dysfunction. Jpn J Ophthalmol. 1993;37(1):62-9.

Causes

Genetic mutations: Although Dekaban-Arima syndrome (DAS) is considered a genetic disease, the exact genetic mutation or defect that causes the condition is unknown.
Autosomal recessive inheritance: Researchers suggest that DAS is inherited as an autosomal recessive trait. Therefore, a person must inherit two copies of the defective gene (one from each parent) to have the disease. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called "carriers," because they can pass the disorder on to their children.
If one parent is a carrier, then each child has a 50% chance of inheriting one defective gene and also of being a carrier. If both parents are carriers, each child has a 25% chance of inheriting two defective genes, a 50% chance of inheriting only one defective gene, and a 25% chance of inheriting neither defective gene. Therefore, if both parents are carriers, about one out of four children will have DAS.
Random occurrence: In rare cases, DAS may occur in individuals with no family history of the disorder. This occurs as the result of a spontaneous genetic mutation in the egg or sperm cells or in the developing embryo.

Risk factors

Because Dekaban-Arima syndrome is inherited, the only known risk factor is a family history of the disorder. Its exact prevalence is unknown, and it is not known whether any one sex or ethnicity is affected more severely than another.
Researchers suggest that DAS is inherited as an autosomal recessive trait. Therefore, a person must inherit two copies of the defective gene (one from each parent) to have the disease. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called "carriers," because they can pass the disorder on to their children.
If one parent is a carrier, then each child will have a 50% chance of inheriting one defective gene and also being a carrier. If both parents are carriers, each child has a 25% chance of inheriting two defective genes, a 50% chance of inheriting only one defective gene, and a 25% chance of inheriting neither defective gene. Therefore, if both parents are carriers, about one out of four children will have DAS.