REVIEW PAPER
Cholestasis with elevated serum gamma-glutamyl transpeptidase activity - an update
Publication date: 2018-03-07
Pediatr Pol 2017;92(4):412-416
KEYWORDS
Adenosine kinase deficiencyNeonatal ichtyosis- sclerosis-cho-langitisNISCH syndromeProgressive familial intrahepatic cholestasis
ABSTRACT
Cholestatic liver diseases remain a major clinical issue for pediatricians. The article constitutes an up-to-day overview on cholestasis with elevated serum gamma-glutamyl transpeptidase activity. Authors presented the pathogenicity, clinical presentation, biochemical and molecular diagnostics of the following disorders: progressive familial intrahepatic cholestasis type 3, adenosine kinase deficiency, neonatal ichthyosis - sclerosing cholangitis syndrome.
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