RENAL-HEPATIC-PANCREATIC DYSPLASIA - AN AUTOSOMAL RECESSIVE DISORDER WITH RENAL AND HEPATIC-FAILURE

We resort two brothers with renal dysplasia and congenital hepatic fib rosis. One patient died shortly after birth of lung hypoplasia. The se cond developed end-stage renal failure at 14 months. The hepatic fibro sis progressed to cirrhosis and hepatic failure. Pancreatic function w as normal, but increased echogenicity was seen on ultrasound. Ar age 3 years and 9 months a successful combined liver-kidney transplantation was performed. The features of our patients are compatible with the ' 'renal-hepatic-pancreatic dysplasia'' syndrome. Conclusion Renal-hepat ic-pancreatic dysplasia is an autosomal recessive disorder with variab le expression. Combined liver-kidney transplantation offers a new ther apeutic option.