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1: J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):241-52. Links

Update on progressive familial intrahepatic cholestasis.

Alissa FT, Jaffe R, Shneider BL.

Departments of Pediatrics, University of Pittsburgh School of Medicine and Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania 15213, USA.

Three distinct forms of familial intrahepatic cholestasis are the result of mutations in the ATP8B1, ABCB11, and ABCB4 genes. The pathophysiologies of the latter 2 of these diseases are well characterized and are the result of abnormalities in canalicular excretion of bile acids and phospholipids, respectively. The molecular pathophysiology of the systemic disease associated with mutations in ATP8B1 remains unclear. In all of these diseases, wide variations in clinical phenotypes have been observed. The variability can be ascribed at least in part to predicted genotype:phenotype correlations. Disease- and genotype-specific prognoses and therapeutic approaches may exist, although much more information needs to be ascertained before clinicians can confidently make decisions based on genetic information.

PMID: 18376240 [PubMed - indexed for MEDLINE]