ISSN:
1432-1076
Keywords:
Key words Renal-hepatic-pancreatic dysplasia
;
Congenital
;
hepatic fibrosis
;
Liver cirrhosis
;
Combined liver-kidney
;
transplantation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We report two brothers with renal dysplasia and congenital hepatic fibrosis. One patient died shortly after birth of lung hypoplasia. The second developed end-stage renal failure at 14 months. The hepatic fibrosis progressed to cirrhosis and hepatic failure. Pancreatic function was normal, but increased echogenicity was seen on ultrasound. At 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-hepatic-pancreatic dysplasia is an autosomal recessive disorder with variable expression. Combined liver-kidney transplantation offers a new therapeutic option.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02002909
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