CONGENITAL HEPATIC FIBROSIS AND POLYCYSTIC KIDNEY DISEASE

Abstract

From 1940 to 1975, congenital hepatic fibrosis was diagnosed in 18 patients who were less than 18 years old. Only patients with histologic confirmation of congenital hepatic fibrosis were included. Although the symptoms and clinical courses differed among the age groups, the histologic liver changes showed little variation. All four patients who presented before the age of 3 months had enlarged kidneys, and all four died in respiratory failure. Fourteen patients were seen after the age of 3 months because of symptoms associated with portal hypertension. Of the 14 patients, 6 died after massive upper gastrointestinal hemorrhage and 1 died after a shunt operation. All 7 patients in this age group who died had renal insufficiency. Of the seven patients still alive at the time of this study, only two had mild renal insufficiency, but all seven had evidence of portal hypertension. Polycystic renal disease was diagnosed in all patients. Fourteen had renal tissue diagnosis, and four had urographic evidence of the disease. Review of the histologic specimens of eight patients revealed that, in the four patients less than 3 months old, the findings were typical of infantile polycystic disease, and in the four older patients, cortical and medullary cysts were present--findings consistent with infantile polycystic kidney disease.