Elsevier

The Journal of Pediatrics

Volume 94, Issue 2, February 1979, Pages 258-260
The Journal of Pediatrics

Brief clinical and laboratory observation
A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease

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    Basolateral membrane proteins were not mislocalised in Vps33bfl/fl-AlfpCre hepatocytes, suggesting a specific role for VPS33B in biogenesis of the bile canaliculus. As we observed in mutant mice that MRP2 is functional and normally sited, as is MRP2 in ARC patients [11], we infer that the collections of Dubin-Johnson-like pigment in some ARC patients’ hepatocytes [42] are unlikely to originate from MRP2 absence or dysfunction. To assess defects in structural components of hepatocyte polarity, we analysed tight junction integrity in Vps33bfl/fl-AlfpCre and Vps33bfl/fl liver.

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    As in BRIC-1 and PFIC-1, then, the failure of GGT values to rise can be ascribed to unavailability of GGT for elution into bile, with reflux into plasma. Of interest is that hepatocytes in ARC may accumulate DJS-like pigment,13,61 suggesting dysfunction of MRP2. The genes involved in MVID and ARC, like those in PFIC-1 and PFIC-2, were identified by homozygosity mapping rather than as orthologues of genes implicated in hepatobiliary disease of animals.

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