Tubulointerstitial nephropathy associated with arteriohepatic dysplasia.

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.