Document Detail


Genetic factors in neonatal hyperbilirubinemia and kernicterus.
MedLine Citation:
PMID:  17990575     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Although the relationship between hyperbilirubinemia and genetic factors has long been questioned, the role of genetic factors in the development of severe hyperbilirubinemia and kernicterus has been investigated in detail in the last decade with the rapid progression in molecular medicine. Although the first historical data gathered about genetical tendency to neonatal hyperbilirubinemia dates back to description of the Crigler-Najjar syndrome in 1952, a substantial interest is currently focused on coding and promoter region mutations of uridine diphosphoglucuronate glucuronosyltransferase 1A1 gene. In this article, the role of uridine diphosphoglucuronate glucuronosyltransferase gene mutations in neonatal significant hyperbilirubinemia and kernicterus is reviewed together with the clinical presentations of the most common syndromes of bilirubin conjugation, such as Gilbert and Crigler-Najjar syndromes. Genetic counseling and investigation may be useful and necessary in newborns presenting with severe, unexplained familial hyperbilirubinemia. In these various syndromes where enzymatic and genetic deficiencies are present, studies about treatment with gene replacement, though currently experimental, are ongoing, especially in type 1 Crigler-Najjar.
Authors:
S Umit Sarici; Mehmet Saldir
Related Documents :
9085215 - Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis.
18985435 - Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
21068205 - Functional study on a novel missense mutation of the transcription factor foxl2 causes ...
9475595 - Novel recurrent nonsense mutation causing neurofibromatosis type 1 (nf1) in a family se...
24337655 - Improving genetic risk prediction by leveraging pleiotropy.
25350605 - Combining magnetic sorting of mother cells and fluctuation tests to analyze genome inst...
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  49     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2007 Jul-Sep
Date Detail:
Created Date:  2007-11-09     Completed Date:  2008-01-08     Revised Date:  2014-03-28    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  Turkey    
Other Details:
Languages:  eng     Pagination:  245-9     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Crigler-Najjar Syndrome / genetics*
Gilbert Disease / genetics*
Glucuronosyltransferase / genetics*,  physiology
Humans
Hyperbilirubinemia, Neonatal / genetics*
Infant, Newborn
Kernicterus / genetics*
Mutation
Organic Anion Transport Polypeptide C / genetics
P-Glycoprotein / genetics
Chemical
Reg. No./Substance:
0/Organic Anion Transport Polypeptide C; 0/P-Glycoprotein; EC 2.4.1.-/UGT1A1 enzyme; EC 2.4.1.17/Glucuronosyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Probiotics and prebiotics in pediatrics: where are we now?
Next Document:  Evaluation of clinical characteristics, diagnosis and management in childhood immune thrombocytopeni...