Crigler-Najjar Syndrome - General Practice Notebook criglernajjar syndrome is a rare form of congenital non-haemolytic Type Icrigler-najjar syndrome is characterised by a total deficiency of hepatic http://www.gpnotebook.co.uk/cache/349175813.htm
Extractions: Crigler-Najjar syndrome Crigler-Najjar syndrome is a rare form of congenital non-haemolytic hyperbilirubinaemia. Type I Crigler-Najjar syndrome is characterised by a total deficiency of hepatic glucuronyl transferase. It is inherited as an autosomal recessive. Conjugated bilirubin is absent from the serum. The majority die with kernicterus in the first year of life. Phototherapy can reduce the serum bilirubin by 50% and may be performed at home. Type II Crigler-Najjar syndrome is characterised by a partial deficiency of glucuronyl transferase. It is inherited as an autosomal dominant. Patients given phenobarbital often survive into adult life. Phototherapy may be used to lower the serum bilirubin level.
Extractions: @import url(default.css); Back to Health Library Print This Page Email to a Friend Liver anatomy Definition: Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions. Causes, incidence, and risk factors: Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called being homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop
Extractions: This Article Extract Full Text (PDF) P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Lucey, J. F. Articles by Kappas, A. Related Collections Gastrointestinal Tract Crigler-Najjar Syndrome, 1952-2000: Learning From Parents and Patients About a Very Rare Disease and Using the Internet to Recruit Patients for Studies The Crigler-Najjar syndrome was first described in this journal in 1952. The majority of patients died with kernicterus during the neonatal period. In 1958, the use of phototherapy to treat neonatal jaundice was first reported in England. This therapy was not adopted in the United States until 1968 when the first randomized controlled trial to prevent neonatal jaundice was reported, also in this journal.
Extractions: This Article Abstract Full Text (PDF) P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Suresh, G. Articles by Lucey, J. F. Related Collections ELECTRONIC ARTICLE: Lack of Deafness in Crigler-Najjar Syndrome Type 1: A Patient Survey Gautham Suresh Jerold F. Lucey Neonatal Division Department of Pediatrics University of Vermont Burlington, VT 05403 ABSTRACT We performed a questionnaire survey about 42 patients with Crigler-Najjar syndrome type 1 who were currently alive. Information was obtained on their age, sex, birth weight, gestation, parental consanguinity, other family members affected, age of onset of jaundice, neonatal and postneonatal bilirubin values, neonatal and postneonatal therapy, problems faced with phototherapy, liver
Extractions: Home Back to Health Library Print This Page ... Liver anatomy Definition: Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions. Causes, incidence, and risk factors: Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called being homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop
Crigler-Najjar Syndrome A family history of criglernajjar syndrome; Yellow skin (jaundice) and eyes (icterus)that begins on the 2nd or 3rd day of life and progressively worsens http://www.healthcentral.com/ency/408/001127sym.html
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Crigler-Najjar Syndrome Home Health Encyclopedia criglernajjar syndrome counseling is recommendedfor prospective parents with a family history of crigler-najjar syndrome. http://www.healthcentral.com/ency/408/001127prv.html
Extractions: Dr. Dean TV Specials Newsletters Home ... Health Tools Search Choose a Health Topic * All Health Topics * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks Disabled/Special Needs Drug Abuse Ear/Nose/Throat Eating/Appetite Eczema Encephalitis Eye/Vision Fatigue Fever Flu Food Poisoning Foot Gallbladder Gastrointestinal Genetic/Congenital GERD/Heartburn Hair Loss Hair/Scalp Headache Hearing Heart Disease, Stroke Heat/Sunstroke Hepatitis Hernia Herpes High Blood Pressure Hormonal Immune Disorders Immunizations/Vaccines Impotence Incontinence/Bladder Infections Injuries Kidney/Urinary Kids Learning Disabilities Liver Lung Cancer Men Menopause, Postmenopause Migraine Mobility/Balance Multiple Sclerosis Muscle Neural Nosebleeds Pain Parasites Pituitary PMS Pregnancy Prostate Cancer Prostate Disorders Psoriasis Psychological Raynaud's Disease Respiratory Reye Syndrome Rheumatoid Arthritis Schizophrenia Seniors Sensory Sexually Transmitted Disease Skin Sleep Speech Disorders Spinal Thyroid Trauma Weight Loss Women Yeast Infections
Crigler-Najjar Syndrome (type I CriglerNajjar); Arias syndrome (type II Crigler-Najjar). Symptoms.A family history of crigler-najjar syndrome; Yellow skin (jaundice) and eyes http://www.lifespan.org/ADAM/English/HIE/001127sym.htm
Crigler-Najjar Syndrome Alternative Names. Glucuronyl transferase deficiency (type I CriglerNajjar);Arias syndrome (type II Crigler-Najjar) http://www.lifespan.org/ADAM/English/HIE/001127prv.htm
Extractions: Other ways to give Injury Disease Nutrition Poison ... Prevention Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar) Genetic counseling is recommended for prospective parents with a family history of Crigler-Najjar syndrome. People who carry the gene can be recognized by blood testing. Liver anatomy Review Date: 7/26/2004 Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network. A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited. Home Search News Find a Physician ... Site Map
Medicdirect - Comprehensive UK Health Information criglernajjar syndrome is caused by a disorder in the metabolism of Children with crigler-najjar syndrome present soon after birth with severe jaundice http://www.medicdirect.co.uk/clinics/default.ihtml?step=4&pid=2032
Liver Syndrome Crigler-Najjar Syndrome criglernajjar syndrome Types 1 and 2 are genetic disorders of bilirubin metabolism.Found in bile, bilirubin supports fat breakdown and helps to prepare it http://www.fairviewtransplant.org/liver/crigler.asp
Extractions: Liver Disorders Transplant Services Website Crigler-Najjar Syndrome Crigler-Najjar Syndrome Types 1 and 2 are genetic disorders of bilirubin metabolism. Found in bile, bilirubin supports fat breakdown and helps to prepare it for absorption. The body produces roughly 250 mg of water-insoluable unconjugated bilirubin daily. It travels to the liver, where it becomes water-soluble conjugated bilirubin and is excreted into the bile. In Type 1 Crigler-Najjar syndrome, unconjugated bilirubin does not convert in the liver, resulting in a concentration of serum bilirubin. Type 1 usually develops in the first three days of life and is marked by pale stools. Left untreated, toxic concentrations (Kernicterus) can build in the first month. Phototherapy, exchange infusions and limiting bilirubin production are among treatment options. Liver transplant is successful in a small number of patients. Type 2 is a less severe disorder, generally presenting in neonates. Bilirubin concentrations may be elevated to and after three weeks of life, and is marked by jaundice and normal stool color. In the bile, bilirubin levels are almost normal. Medication to reduce serum bilirubin levels is effective.
Extractions: Directory ... C crigler-najjar syndrome (Science: syndrome) A rare genetic defect autosomal recessive ) where there is the inability to form bilirubin glucuronide due to the absence of the enzyme bilirubin-glucuronoside glucuronosyl transferase finding include jaundice and irreversible brain damage in the severe form. Inheritance autosomal recessive
Resource Library Find Information On Crigler-Najjar Syndrome At Find information on criglernajjar syndrome at MerckSource. Learn more aboutcrigler-najjar syndrome, crigler-najjar syndrome is an inherited disorder in http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns
Crigler-Najjar Syndrome criglernajjar syndrome is an inherited disorder in which bilirubin (a substancemade by the liver) cannot be changed into its water-soluble form, http://www.pennhealth.com/ency/article/001127.htm
Extractions: Appointments Medical Services Health Information Find a Doctor Search: Search Encyclopedia: List of Topics Print This Page  Liver Disease Liver anatomy Definition: Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions. Alternative Names: Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar) Causes, incidence, and risk factors: Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called being homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop
Extractions: 3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Back to main Health Information page Liver anatomy Definition: Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions. Alternative Names: Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar) Causes And Risk: Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the normal enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop
Chapter 14 - Section 3: First Principles Of Gastroenterology Except for criglernajjar syndrome, congenital hyperbilirubinemia does not crigler-najjar syndrome type II is a much more benign condition in which the http://gastroresource.com/GITextbook/En/Chapter14/14-3.htm
Extractions: - Select a chapter - 1. Symptoms and Signs 2. Nutrition 3. Ethics 4. Research/Clinical Trials 5. Esophagus 6. Stomach and Duodenum 7. Small Intestine 8. Intestinal Ischemia 9. H.I.V. 10. Inflammatory Bowel 11. Colon 12. Pancreas 13. Biliary System 14. Liver 15. Paediatrics 16. Video Endoscopic Images Search 3. Congenital Hyperbilirubinemia / P. Paré page 476 The importance of recognizing congenital hyperbilirubinemia lies mainly in distinguishing it from other, more serious hepatobiliary disease: congenital conjugated hyperbilirubinemia or hepatobiliary diseases. Except for Crigler-Najjar syndrome, congenital hyperbilirubinemia does not impair either the quality of life or the life expectancy of affected subjects. By definition, patients with familial hyperbilirubinemia have normal standard liver tests, and the liver histology is also normal (except for the pigment accumulation in Dubin-Johnson syndrome). With the exception of Gilbert's syndrome, these syndromes are uncommon and are divided into two groups on the basis of the type of the serum hyperbilirubinemia. 3.1 Unconjugated Hyperbilirubinemia
606785 CRIGLER-NAJJAR SYNDROME, TYPE II Type I and type II criglernajjar syndrome are distinguished on the basis of the Type II crigler-najjar syndrome is less severe than type I. Type I is http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:606785] -e
143500 GILBERT SYNDROME Mutations in the same gene cause criglernajjar syndrome type I (218800) and In a kindred with a history of crigler-najjar syndrome type II, http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:143500] -e
