Crigler-Najjar Disease criglernajjar syndrome. For more information on crigler-najjar syndrome, followthese links http//www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?218800. http://www.bio.davidson.edu/courses/Molbio/MolStudents/spring2000/roberts/Pages/
Extractions: This web page was produced as an assignment for an undergraduate course at Davidson College. Crigler-Najjar Syndrome Crigler-Najjar Syndrome a disease caused by a single base deletion in the gene for a liver enzyme that metabolizes bilirubin ( ). Therefore, the body fails to break down bilirubin (a yellow pigment), which accumulates to toxic levels ( ). Therefore, the patient becomes juandiced and must spend up to 16 hours a day under blue lights to break down the pigment. Crigler-Najjar disease is fatal if untreated, and liver transplant is the only known cure ( For more information on Crigler-Najjar Syndrome, follow these links: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?218800 http://www.icondata.com/health/pedbase/files/CRIGLER-.HTM Return to "Uses of Chimeraplasty" Return to the Molecular Biology Homepage
Porfyrines En Haem UDPglucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. 2 Crigler-NajjarSyndrome Type I. 3 crigler-najjar syndrome Type II ( Arias Syndrome). http://www.homepages.hetnet.nl/~b1beukema/ziekporfyrines.html
Extractions: Porfyrines en haem Hepatische Porfyrie delta-Aminolevulinic acid dehydratase porphyria ( acute hepatic porphyria ) Enzym synoniemen : Porphobilinogen synthase ; Aminolevulinate dehydratase. O Acute intermittent porphyria (AIP ; Porphobilinogen deaminase deficiency; Uroporphyrinogen - synthase deficiency ) Enzym synoniemen : Hydroxymethylbilane synthase 4 porphobilinogen + H Hereditary coproporphyria (HCP) of Coproporfyrie of CPO def. Enzym synoniemen : Coproporphyrinogen oxidase; Coproporphyrinogenase; Coproporphyrinogen-III - oxidase Coproporphyrinogen-III + O Variegate porphyria ( VP) Porphyria cutanea tarda Type II ( PCT; Uroporphyrinogen Decarboxylase Deficiency ) Porphyria cutanea tarda Type I Hepatoerythropoietic porphyria ( HEP) Erytropoietische porfyrie : Congenital erythropoietic porphyria CEP;
Clinical Case Yazawa., Sato H., Koiwai O. Identification of defect in the genes for bilirubin UDPglucuronosyl-transferasein a patient with crigler-najjar syndrome type II. http://www.med.uva.es/hortega/ingles/bibliografia.html
Extractions: Clinical Case Bibliography R.W.Van Dyke. Approach to the Patient With Jaundice. In William N.Kelley. Textbook of Internal Medicine. Third Edition. Lippincott-Raven Publishers. Philadelphia. 1997. Pp.:649-656. K. J. Isselbacher. Bilirubin metabolism and hyperbilirubinemia. In K. J. Isselbacher, E. Braunwald, J. D. Wilson, J. B. Martin, A. S. Fauci and D. L. Kasper. Harrison's CD-ROM. Principles of internal medicine. Mc Graw-Hill 13 th. Edition. 1995. Chapt. 265. Bosma P.J., Chowdhury JR., Bakker C., Gantla S., de Boer A., Oostra BA., Lindhout D., Tytgat G.N., Jansen P.L., Oude Elferink R.P., et al. The genetic basis of the reduced expression of bilirubin UDP-glururonosyl-transferase in Gilbert's syndrome [see comments], N. Engl J. Med. 995;333:1171-1175. Labrune P., Myara A., Hennion C., Gout JP., Trivin F., Odievre M. Crigler-Najjar type II disease inheritance: a family study. J. Inherit Metab Dis. 1989; 12:302-306 Aono S., Yamada Y., Keino H., Hanada N., Nakagawa T., Sasaoka Y., Yazawa., Sato H., Koiwai O. Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II. Biochem. Biophys. Res. Commun. 1993; 197: 1239-1244. Sinaasappel M., Jansen P.L. The differential diagnosis of Crigler-Najjar disease, types 1 and 2, by bile pigment analysis. Gastroenterology. 1991; 100:783-789.
Extractions: Jaundice caused by Crigler-Najjar type II syndrome Once hemolysis, ineffective erythropoiesis and liver disease have been ruled out as causes of indirect hyperbilirubinemia, hereditary disorders associated with the conjugation of bilirubin constitute the remaining group of disorders responsible for indirect hyperbilirubinemia. The most common is Gilbert's syndrome, which affects 2 to 5 percent of the population. Gilbert's syndrome is a benign chronic disorder characterized by mild, persistent unconjugated hyperbilirubinemia. The factor leading to inheritance is unclear, It may be an autosomal dominant disorder and its clinical expression is variable. Patients are normally heterozygous for the mutant gene. The multitud of anomalous traits which have been described and associated with Gilbert's syndrome suggest that this may not be a single entity. The defectuous metabolism of bilirubin is of a complex nature. The conjugating enzyme glucuronosyl transferase is diminished. Jaundice, as manifested in Gilbert's syndrome, is mild; bilirubin is less than 5 mg/dL, (85.5 micromol/L) fluctuates and may intensify following infection or fasting and may diminish following the administration of phenobarbital. Clearance of bromosulphalein and tolbutamide is altered, otherwise exploration is normal. Examination by light microscopy of the hepatic biopsy reveals normal results and very low values for the conjugating bilirubin enzyme. However, such techniques are not usually required in order to diagnose Gilbert's syndrome, which can be diagnosed by exclusion, in the absence of other causes of indirect hyperbilirubinemia.
Bilirubin: Common Questions Several inherited chronic conditions include Gilberts syndrome, DubinJohnsonsyndrome, Rotors syndrome, and crigler-najjar syndrome. http://www.labtestsonline.org/understanding/analytes/bilirubin/faq.html
Extractions: TESTS test not listed? ACTH AFB Culture AFP Maternal AFP Tumor Marker Albumin Aldosterone Allergies ALP ALT Amylase ANA Antibody Tests Apo A Apo B ApoE Genotyping AST Bilirubin Blood Culture Blood Gases BMP BNP Bone Markers BRCA BUN C-peptide CA-125 CA 15-3 CA 19-9 Calcium Cardiac Risk CBC CEA CF Gene Mutation Chlamydia Chloride Cholesterol CK CK-MB CMP Cortisol Creatinine Creatinine Clearance CRP CRP, high-sensitivity Cystatin C DHEAS Differential EGFR Electrolytes ESR Estrogen Estrogen Receptors Fecal Occult Blood Ferritin Flu Tests FSH Genotypic Resistance GFR GGT Glucose Gonorrhea Gram Stain Growth Hormone hCG HDL Hematocrit Hemoglobin Hepatitis A Hepatitis B Hepatitis C Her-2/neu Herpes HIV Antibody Home Tests Homocysteine HPV H-pylori hs-CRP Insulin Iron Tests LD LDH LDL Lead LH Lipase Lipid Profile Liver Panel Lp(a) Lyme Disease Magnesium Microalbumin Mono Monoclonal Protein Myoglobin Pap Smear Phosphorus Platelets Potassium Prealbumin Progesterone Progest. Receptors Prolactin PSA PT PTH Red Count Renin Rheumatoid Factor Rubella Semen Analysis Serum Iron Sickle Cell Sodium Strep Throat Sweat Chloride Syphilis Tau/Aß42 TB Skin Test Testosterone Ther. Drug Monitoring
Crigler-Najjar Syndrome Website Results :: Linkspider UK criglernajjar syndrome Websites from Linkspider UK. Keyword Crigler-NajjarSyndrome. Linkspider UK Directory crigler-najjar syndrome Search for. http://www.linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Crigle
Extractions: See Also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders HealthCentral - General Encyclopedia - A look at crigler-najjar syndrome including, the symptoms, treatment, diagnosis, prognosis and prevention. Pediatric Database - A look at crigler-najjar syndrome, a definition, epidemiology, pathogenesis, clinical features, investigation and management. Davidson College Biology Department - A brief description of crigler-najjar syndrome along with some links for further study. Austin Health Information - An overview of crigler-najjar syndrome including symptoms, treatment and prevention. Crigler-Najjar Disease - Bi-lingual site with information and links on this disease. NORD - General information about crigler najjar syndrome type I, followed by further resources.
Medicalseek - Search Engine For The Healthcare Industry Conditions and DiseasesGenetic Disorderscriglernajjar syndrome Austin HealthInformation An overview of crigler-najjar syndrome including symptoms http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Crigler_Naj
Extractions: References Crigler-Najjar syndrome is linked to a permanent deficit of uridine diphosphate-glucuronosyltransferase (UDPGT; EC 2.4.1.17 ) activity. This disease is also described under the name of hereditary unconjugated hyperbilirubinemia. Crigler-Najjar syndrome, either type I or type II, is an extremely rare entity, whose incidence is estimated at 1:1.000.000 births. The severity of type I Crigler-Najjar syndrome justifies, in many cases, proposing prenatal diagnosis. The activity of UDPGT is not detectable in the fetal tissues usually used for prenatal diagnosis (trophoblast, amniocytes, fetal blood). The genetic heterogeneity of the disease, in addition to the existence of compound heterozygotes, makes a direct approach difficult. Moreover, the UDPGT locus shows little polymorphism and the use of an indirect approach by restriction fragment length polymorphism or microsatellite polymorphism is also difficult. Thus, at present, prenatal diagnosis can only be proposed case by case, provided that the family could have been studied beforehand, particularly the index case whose genotype must have been precisely determined.
Chapter 14 - Section 3: First Principles Of Gastroenterology Except for criglernajjar syndrome, congenital hyperbilirubinemia does not impaireither the quality of life or the life expectancy of affected subjects. 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
Extractions: Vai alla home page delle Edizioni Universitarie Romane "La Sapienza" Roma. *Cattedra di Medicina del Lavoro Università "Tor Vergata" Roma. UNA ESPERIENZA PERSONALE SULLA TERAPIA CON SALI DI CALCIO TULLIO FREDIANI Riassunto Parole chiave: Malattia di Crigler-Najjar, Iperbilirubinemia neonatale. Abstract The type I Crigler-Najjar Syndrome (CNS), i.e., non-coniugate hereditary hyperbilirubinemia, is caused by a complete deficit of bilirubin-UDP-glucurosyl-transferase in the liver. Since the introduction of phototherapy (PT) many patients survive but develop neurological symptoms. While liver transplant remains the only definitive treatment. The paper describes the case of a 9 year-old female patient suffering from type I CNS whose levels of bilirubin reached the danger point with the risk of kernicterus during a serious infection despit an increase in the duration of PT. The oral administration of a solution containing calcium phosphate was followed by a progressive drop in the levels of bilirubinemia. Key words: Crigler-Najjar Syndrome, Hyperbilirubinemia.
Current Papers In Liver Disease - May, 1998 Treatment of the criglernajjar syndrome type I with hepatocyte transplantation.New England Journal of Medicine. 3381422-1426. http://cpmcnet.columbia.edu/dept/gi/may98.html
Extractions: Columbia University and Lamivudine is an inhibitor of hepatitis B virus (HBV) RNA-dependent DNA polymerase that has shown considerable promise in the treatment of patients with hepatitis B. One factor that may limit its use as a therapeutic agent is the development of resistance, which is known to occur as a result of mutations in a particular amino acid motif of tyrosine-methione-aspartate-aspartate (YMDD) in the polymerase. These two studies in Hepatology further examined the phenomenon of lamivudine resistance. The study by Allen et al. examined the genomic sequences of HBV from 20 patients who developed resistance to lamivudine. The authors showed that the 20 mutations at the YMDD motif comprise two "groups." Group I had a substitution of valine for methionine (YVDD) and group II had a substitution of isoleucine for methionine (YIDD). Group I mutants always had a second mutation that resulted of leucine for another methionine at a position upstream of the YMDD motif. The authors further showed that these mutations inhibited polymerase sensitivity to lamivudine
EnableNet - Enablenet.browse.browse Physical Disabilities Endocrine and Metabolic Disord CriglerNajjarSyndrome crigler-najjar syndrome Matching Resources. Records 1-1 of 1 http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2855
Extractions: Crigler-Najjar syndrome is inherited as an autosomal recessive trait. Parents who are carriers of this condition have about half the normal enzyme activity of an unaffected adult. Infants who inherit the trait from both parents (this is called homozygous inheritance) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop kernicterus
Gilberts Web - Advanced Medical Report to bilirubin glucuronidation in 10 unrelated patients with Gilbert's syndrome,16 members of a kindred with a history of criglernajjar syndrome type II http://www.gilbertsweb.co.uk/doctors/advanced.htm
Extractions: The Genetic Basis of the Reduced Expression of Bilirubin UDP-Glucuronosyltransferase 1 in Gilbert's Syndrome The New England Journal of Medicine November 2, 1995 Volume 333, Number 18 Piter J. Bosma, Jayanta Roy Chowdhury, Conny Bakker, Shailaja Gantla, Anita de Boer, Ben A. Oostra, Dick Lindhout, Guido N.J. Tytgat, Peter L.M. Jansen, Ronald P.J. Oude Elferink, Namita Roy Chowdhury. Abstract Background. People with Gilbert's syndrome have mild, chronic unconjugated hyperbilirubinemia in the absence of liver disease or overt hemolysis. Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal. Methods. We sequenced the coding and promoter regions of the gene for bilirubin UDP-glucuronosyltransferase 1 (bilirubin/uridine diphosphoglucuronate-glucuronosyltransferase 1) the only enzyme that contributes substantially to bilirubin glucuronidation in 10 unrelated patients with Gilbert's syndrome, 16 members of a kindred with a history of Crigler-Najjar syndrome type II, and 55 normal subjects. Results.
Clinic For Special Children Home Page criglernajjar syndrome, UDP-glucuronosyltransferase, UGT1A1. crigler-najjar syndrome,UGT1A1, c.222C- A, Y74X, Puffenberger, unpublished, Amish and Mennonite. http://www.clinicforspecialchildren.org/labmolgen.html
Extractions: DISEASE GENE PRODUCT GENE SYMBOL Crigler-Najjar syndrome UDP-glucuronosyltransferase Cystinuria Renal amino acid transporter Familial periodic fever syndrome (TRAPS) Tumor necrosis factor receptor Glutaric aciduria, type 1 Glutaryl-CoA dehydrogenase GCDH Maple syrup urine disease, types 1A, 1B, 2 Branched-chain keto-acid dehydrogenase BCKDHA, BCKDHB, DBT MCAD deficiency Medium chain acyl-CoA dehydrogenase ACADM Phenylketonuria Phenylalanine hydroxylase PAH Tyrosinemia, type 3 4-Hydroxyphenylpyruvate dioxygenase HPD Note: We will perform targeted mutation detection (i.e. mutation specified by referrer) for the above genes. Mutation Detection Overview: Mutation detection is performed to determine the genotype of the patient with repect to the specified mutation. The following mutations are found in high frequency among the Amish and Mennonite populations of Lancaster County, PA. Method: DNA is isolated by standard methods from EDTA anti-coagulated peripheral blood. The segment of DNA encoding the mutation is amplified by polymerase chain reaction (PCR) using specific oligonucleotide primers. The PCR product is then sequenced using a fluorescence-based cycle sequencing protocol. The extension products are subsequently size-fractionated on an ABI 310 Genetic Analyzer (see
Fall Rhen The liver cell infusion was performed in April 1997 on Maria Louisa Lujan, an 11year-oldfrom Albiquiu, NM, suffering from crigler-najjar syndrome Type I. http://www.unmc.edu/pubs/synapse/spring98/story7.htm
Extractions: Next Story Return to page 1 of Spring issue Return to Synapse ... Home Fewer liver transplants is goal of cell line research Finding a way to regenerate the liver and to provide alternatives to transplantation for some people with acute liver failure is the goal of research underway at UNMC. Transplant surgeon and molecular biologist Ira Fox, M.D., jumps between the worlds of basic and clinical research in his quest to create a universal hepatocyte cell line. Development of this cell line would partially alleviate the shortage of human livers for organ and hepatocyte transplantation, and would have a strong impact on the treatment of other metabolic diseases, said Dr. Fox, associate professor, surgery. "If hepatocyte transplantation works and we can find a way to isolate enough hepatocytes, whether they be normal human cells, pig cells or immortalized cells, we won’t have to wait for organs to save some lives. We can keep people alive with hepatocyte transplants," he said. Those with Hepatitis B, a disease for which patients may not receive liver transplants, could receive transplanted hepatocytes to prolong their life.
HepNet - Liver Cell Injections May Help Liver Disease Patients Strom's group has also used the liver cells to correct liver function in an 11year-oldpatient with crigler-najjar syndrome, an inherited disease of the liver http://www.hepnet.com/news042100.html
Extractions: Liver cell injections may help liver disease patients. Friday April 21, 2000 SAN DIEGO, Apr 21 (Reuters Health) Liver cells grown in the lab may help to keep patients with liver disease alive while they wait for a liver transplant, according to a report presented this week at the Experimental Biology 2000 meeting. Injections of liver cells may also help to treat inherited diseases of the liver, the researchers note. Dr. Stephen C. Strom, of the University of Pittsburgh, Pennsylvania, reported on studies where his team injected liver cells into the spleens of patients with terminal liver failure to serve as a ``bridge'' until a liver transplant was available. The patients had liver failure due to various causes, including drug-induced failure or as a complication of the hepatitis B virus. Among the patients receiving the liver cells, there were six deaths. But seven patients survived an average of 4 days after the liver cell injection before receiving a liver transplant. ``They were probably rescued by the whole liver transplant, rather than the cells,'' Strom acknowledged. One patient with liver failure recovered after receiving the liver cells alone, without a liver transplant.
_Dr Mano Arumanayagam criglernajjar syndrome. The extreme form of familial non-haemolytic jaundiceis associated with very high serum unconjugated bilirubin values. http://www.cpy.cuhk.edu.hk/lecture/1999-2000/week19/Jaundice99.htm
Extractions: Dr Mano Arumanayagam th October 1999 THE CHINESE UNIVERSITY OF HONG KONG DEPARTMENT OF CHEMICAL PATHOLOGY Jaundice Objective of this lecture Understand the mechanism, causes and investigations of jaundice CONTENTS DEFINITION TRANSPORT OF BILIRUBIN BREAKDOWN OF BILIRUBIN CLASSIFICATION OF JAUNDICE UNCONJUGATED BILIRUBINAEMIA CONJUGATED BILIRUBINAEMIA NEONATAL JAUNDICE INVESTIGATION OF JAUNDICE IN NEONATES HAEMOLYTIC DISEASE OF THE NEW-BORN THE ROLE OF SERUM BILIRUBIN DETERMINATIONS REFERENCES DEFINITION Jaundice (from French jaune - yellow) - term used to indicate clinically evident bilirubin excess. In healthy subjects - m mol/L. m mol/L. Occurs - imbalance between production and removal of bilirubin i.e. production exceeds the hepatic capacity to excrete it. Red blood cells life span 120 days. At the end - broken down by the RE (reticuloendothelial) system,mainly in the spleen. Haem/Heme Globin Remove Iron chains Converted to bilirubin Enters general protein pool 80% bilirubin from haemoglobin; the rest from other haem-proteins viz. myoglobin and cytochromes. TRANSPORT OF BILIRUBIN Bilirubin is not water soluble . Therefore, transported to the liver mainly bound to albumin, some bilirubin is free/unbound. Free unconjugated bilirubin is lipid soluble and will easily pass to the brain where it is toxic, particularly in premature babies and neonates, causing kernicterus.
Abstracts 4 98 Engl DN Degtyarev, AV Ivanova, Yu.A. Sigova Crigler Najjar syndrome. Aclinical case of crigler-najjar syndrome, type I, is presented. http://www.mediasphera.aha.ru/pediatr/98/4/e4-98ref.htm
Extractions: Perinatal pathology of the brain: safety limits, immediate and late prognosis The original investigations of the degree of safety, immediate and late prognosis of newborns whose mothers belong to the group of high risk of pregnancy and labor are reviewed. The range of possible outcomes is presented: high reproductive losses, dealth of newborns because of massive cerebral disorders, disability from childhood and minimal cerebral dysfunctions. The limits of physiological tolerance, significance of the degree of harmful influence on fetus and its nervous system, role of early diagnosis, the control and therapeutic correction of pregnancy and labor high risk are discussed. The course and management of pregnancy in intrauterine infection of the fetus Intrauterine infection of the fetus is one of the most important problems of contemporary obstetrics. The aim of this work was to investigate the influence of neonatal infections on the course of pregnancy, labor and newborn state. The examination covered pregnant women at high risk of intrauterine infection of the fetus. Cervical canal investigations, examination of amniotic fluid obtained by transabdominal amniocentesis and tested by polymerase chain reaction for identification of the agents of sexually transmitted diseases, culturing of vaginal content for anaerobic and aerobic germs determination, histological examination of the placenta, umbilical cord and amniotic membranes tests were performed. Special etiotropic therapy in cases of infection was performed. Determination of the risk factors of intrauterine infection of the fetus and early diagnosis and treatment contubute to a decrease of this pathology frequency. Practical recommendations to pediatricians are presented.
Crigler-najjar, Syndrome : Arborescences MeSH Translate this page crigler-najjar, syndrome. Menu général CISMeF. maladies et malformationscongénitales, héréditaires et néonatales C16 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navicriglernajjarsyndrome.html
