DISTINCTIVE CASE - HEPATIC-FIBROSIS ASSOCIATED WITH HEREDITARY CYSTINOSIS - A NOVEL FORM OF NONCIRRHOTIC PORTAL-HYPERTENSION

Hepatomegaly is a common feature of hereditary nephropathic cystinosis but is rarely associated with symptoms of liver disease. Aside from c ystine crystal deposit within Kupffer cells, the cause of liver enlarg ement is unknown. We report the case of a patient with nephropathic cy stinosis who died at the age of 24 yr after multiple renal transplants . In addition to classical systemic signs of advanced cystinosis, the patient had evidence of portal hypertension. At autopsy, the liver was enlarged for body size (1520 g) and very firm. Massive crystal accumu lation within Kuppfer cells was accompanied by intense sinusoidal depo sition of collagen types I, III, and IV, with associated hepatocyte at rophy. There was no inflammation or regenerative nodules. Numerous enl arged and fat-laden Ito cells were present in association with the col lagen. This case illustrates a novel form of noncirrhotic portal hyper tension associated with cystinosis. Analysis of future cases may serve to highlight the role of Kupffer and Ito cells in the pathogenesis of hepatic fibrosis.