Pediatr Res 1979 Sep;13(9):1002-5

A study of inheritance in progressive intrahepatic cholestasis: hepati
excretory function in unaffected family members

Bidot-Lopez P, Labrecque DR, Hsia YE, Riely CA

Abstract

In an attempt to identify the heterozygotes state for progressive intrahepatic
cholestasis (PIC), hepatic excretory function (131I rose bengal half-life (t1/2)
and bromosulpthalein-transport maximum (BSP-Tm) was studied in controls and in
eight members of a family, two of whom are affected with PIC. Values for 131I
rose bengal t1/2 varied over a wide range in normal controls and were normal in
patients with the syndrome of cholestasis and peripheral pulmonic stenosis in
whom BSP-Tm and 45 min % retention were abnormal. 131I rose bengal t1/2 was
abnormal in seven of eight family members. Despite this, BSP studies, including
Tm, percent retention at 45 min, clearance were normal in all unaffected family
members with the exception of the mother who has a reduced BSP-Tm. Fasting serum
bile acid studies were normal in all unaffected family members. These studies do
not clearly define the inheritance in this syndrome and suggest that any of the
following three possibilities exist: 1) that the methods employed were not
sensitive enough to detect heterozygotes, 2) that the inheritance in this
syndrome is heterogenous; for instance, compound heterozygotes or autosomal
dominant, or 3) that the family studies here represents a syndrome different
from PIC