GW29-e1295 Neonatal hyperthyroidism as a cause of cholestasis

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Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, p...

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Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis

Isolated ACTH deficiency (IAD) is a rare cause of neonatal cholestasis and hypoglycaemia. This diagnosis has a 20% mortality potential if unrecognised. We describe a case of an infant presenting with cholestatic jaundice and hypoglycaemia. The patient had laboratory findings suggestive of IAD, which was later confirmed with molecular genetic testing. One of the mutations this patient had is a n...

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Neonatal cholestasis.

2004;25;388 Pediatrics in Review Frederick J. Suchy Neonatal Cholestasis http://pedsinreview.aappublications.org/content/25/11/388 located on the World Wide Web at: The online version of this article, along with updated information and services, is http://pedsinreview.aappublications.org/content/suppl/2005/01/26/25.11.388.DC1.html Data Supplement (unedited) at: Pediatrics. All rights reserved. ...

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ژورنال

عنوان ژورنال: Journal of the American College of Cardiology

سال: 2018

ISSN: 0735-1097

DOI: 10.1016/j.jacc.2018.08.1063