Direct Diagnosis of Wilson Disease by Molecular Genetics

In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal, which made the diagnosis of Wilson disease unlikely, analysis of ATP7B gene showed disease causing mutations in all. Molecular diagnosis should be considered in children with enigmatic liver disease...

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Bibliographic Details
Published in:	The Journal of pediatrics Vol. 148; no. 1; pp. 138 - 140
Main Authors:	Caprai, Silvia, Loudianos, Georgios, Massei, Francesco, Gori, Laura, Lovicu, Mario, Maggiore, Giuseppe
Format:	Journal Article
Language:	English
Published:	New York, NY Mosby, Inc 2006 Elsevier
Subjects:	Adenosine Triphosphatases - genetics Adolescent Antidotes - therapeutic use Biological and medical sciences Cation Transport Proteins - genetics Child Copper-transporting ATPases Female General aspects Hepatolenticular Degeneration - diagnosis Hepatolenticular Degeneration - drug therapy Hepatolenticular Degeneration - genetics Humans Male Medical sciences Metabolic diseases Metals (hemochromatosis...) Mutation Mutation, Missense Other metabolic disorders Penicillamine - therapeutic use Retrospective Studies Sequence Deletion Treatment Outcome WD KF Pediatrics Nervous system diseases Wilson disease Digestive diseases Metabolic diseases Diagnosis Molecular biology Copper Enzymopathy Genetic disease
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Summary:	In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal, which made the diagnosis of Wilson disease unlikely, analysis of ATP7B gene showed disease causing mutations in all. Molecular diagnosis should be considered in children with enigmatic liver disease, especially those with features of nonalcoholic fatty liver disease.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2005.07.036