Abstract
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.
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Abbreviations
- ARPKD :
-
autosomal recessive polycystic kidney disease
- CHF :
-
congenital hepatic fibrosis
- RHPD :
-
renal-hepatic-pancreatic dysplasia
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Neuhaus, T.J., Sennhauser, F., Briner, J. et al. Renal-hepatic-pancreatic dysplasia: An autosomal recessive disorder with renal and hepatic failure. Eur J Pediatr 155, 791–795 (1996). https://doi.org/10.1007/BF02002909
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DOI: https://doi.org/10.1007/BF02002909