LUCEY-DRISCOLL SYNDROME Mutations in the same gene cause Crigler- Najjar syndrome types I and II (, ) and Gilbert syndrome (). Disease name; Orpha number Synonym(s). Lucey-Driscoll syndrome An Orphanet summary for this disease is currently under development. However. Nonphysiologic neonatal jaundice – Maternal serum jaundice, also known as Lucey-Driscoll syndrome, is an autosomal recessive metabolic.
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The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn.
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Cause It is caused by abnormalities in the gene coding for uridine diphosphogluconurate glucuronosyltransferase UGT1A1. Learn how and when to remove these template messages. Review provided by VeriMed Healthcare Network. Usually all siblings are affected. For all other comments, please send your remarks via contact us. Each of the remaining nine 5′ exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini.
The presence of significant neonatal jaundice frequently associated with a familial pattern. This article has multiple issues.
Sequencing of UGT1A1 revealed that 8 infants were homozygous and 7 heterozygous for a missense mutation Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria. Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: Prolonged neonatal unconjugated hyperbilirubinemia associated with breast feeding and a steroid, pregnane-3 alpha20 beta -diol, in maternal milk that inhibits glucuronide formation in vitro.
Search Advanced search allows to you precisely focus your query. Rare conditions Genetic, autosomal recessive Congenital onset.
This article includes a list of referencesrelated reading or external linksbut its sources remain unclear because it lacks inline citations. You can help Wikipedia by expanding it. Each first exon encodes the substrate binding site, and is regulated by its own promoter. This problem is most often found immediately after delivery. Ask A Health Librarian.
Lucey Driscoll syndrome
Left untreated, kernicterus may develop. Classes and Support Groups. Transient Familial Neonatal Hyperbilirubinemia. There are other causes for jaundice in the newborn that are easily treated. Specialised Social Services Eurordis directory. Member feedback about UDP glucuronosyltransferase 1 family, polypeptide A1: All siblings are usually affected, and there is frequently a history of the phenomenon occurring in previous generations.
CC ]. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
An exchange transfusion is sometimes necessary if the levels are extremely high. List of ICD-9 codes — Pediatrics Revolvy Brain revolvybrain. Sleisenger and Fordtran’s Gastrointestinal and Liver Disease.
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Lucey–Driscoll syndrome | Revolvy
However, maximal body weight loss during the neonatal period was the only independent risk factor for the development of neonatal hyperbilirubinemia odds ratio of 1. Serum from these mothers contains no more inhibitory substance than does normal pregnancy serum.
Transient familial hyperbilirubinemia is an inherited disorder. This disorder tends to improve with time. Accessed December 31,