Genes for jaundice

: The inheritable causes of jaundice comprise a large group of conditions of varying frequency, from Gilbert’s syndrome which is relatively common, to the very rare Crigler–Najjar syndrome. Although these conditions have been well chjpccterized clinically and in some cases biochemically, the underly...

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Bibliographic Details
Published in:Journal of paediatrics and child health 1999-12, Vol.35 (6), p.522-524
Main Author: Hardikar, W
Format: Article
Language:English
Subjects:
bile transport
Biological and medical sciences
cholestasis
Cholestasis, Intrahepatic - diagnosis
Cholestasis, Intrahepatic - genetics
Cholestasis, Intrahepatic - physiopathology
Crigler-Najjar Syndrome - diagnosis
Crigler-Najjar Syndrome - genetics
Crigler-Najjar Syndrome - physiopathology
Errors of metabolism
genes
Genetic factors
Gilbert Disease - diagnosis
Gilbert Disease - genetics
Gilbert Disease - physiopathology
Humans
Hyperbilirubinemia, Hereditary - diagnosis
Hyperbilirubinemia, Hereditary - genetics
Hyperbilirubinemia, Hereditary - physiopathology
Infant, Newborn
Jaundice
Jaundice - diagnosis
Jaundice - genetics
Jaundice - physiopathology
Jaundice, Chronic Idiopathic - diagnosis
Jaundice, Chronic Idiopathic - genetics
Jaundice, Chronic Idiopathic - physiopathology
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
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Description
Summary:: The inheritable causes of jaundice comprise a large group of conditions of varying frequency, from Gilbert’s syndrome which is relatively common, to the very rare Crigler–Najjar syndrome. Although these conditions have been well chjpccterized clinically and in some cases biochemically, the underlying molecular defects were unknown because of a lack of knowledge about the process of bile secretion by hepatocytes. The recent cloning of several transporters for bile acids and other organic anions has enabled a greater understanding of this process and allowed correlation of the malfunction of these genes with specific disease processes. This new knowledge will provide for precision in diagnosis, allow antenatal testing and provide opportunities for gene therapy for some of the more serious disorders.
ISSN:1034-4810
1440-1754
DOI:10.1046/j.1440-1754.1999.00431.x