Gastroenterology 1983 Aug;85(2):430-4

Tubulointerstitial nephropathy associated with arteriohepatic dysplasia

Hyams JS, Berman MM, Davis BH

Abstract
An infant with a variant of arteriohepatic dysplasia (characteristic facies,
valvular and peripheral pulmonic stenosis, hypercholesterolemia, intrahepatic
cholestasis) and a severe tubulointerstitial nephropathy is described. Liver
biopsy at 2 mo and at 10 mo of age revealed marked hepatocellular cholestasis
and a slight decrease in the number of interlobular bile ducts per portal triad.
Severe fibrosis was noted at 10 mo. Renal findings included tubular atrophy,
microcystic tubular dilatation, and interstitial fibrosis. Death at 10 mo was
associated with renal failure and pneumonia. The case suggests an additional
association between renal cystic disease and abnormalities of the biliary tree