Renal cysts and diabetes syndrome


Authors: T. Seeman ;  M. Malina ;  P. Dušátková ;  R. Kotalová ;  J. Lebl ;  Š. Průhová
Authors‘ workplace: Pediatrická klinika 2. LF UK a FN Motol, Praha přednosta prof. MUDr. J. Lebl, CSc.
Published in: Čes-slov Pediat 2015; 70 (1): 40-45.
Category: Review

Overview

Renal cysts and diabetes syndrome (RCAD) is a relatively new nosological entity caused by anomalies of the gene for hepatocyte nuclear faktor 1 beta (HNF1B). It was also named as maturity-onset diabetes of the young type 5 (MODY5). In the recent years it is diagnosed in increasing number of children with different cystic kidney anomalies and seems to be the second most common etiology of cystic kidney diseases in childhood.

The clinical manifestations are multiorgan and include renal anomalies (renal cysts, hypo-dysplasia, hypomagnesemia), pancreatic anomalies (diabetes mellitus, pancreatic atrophy) and can include also liver and external genitalia. Therefore, RCAD syndrome should be considered in children with renal cysts, hypomagnesemia, diabetes mellitus without autoantibodies. The most important diagnostic test is DNA analysis of the gene for HNF1B.

The prognosis of the RCAD syndrome depends mainly on the severity of renal and pancreatic involvement (chronic renal insufficiency/failure, diabetes mellitus in the adolescent/young adult age). The treatment is symptomatic and focused on the complications of renal and pancreatic anomalies.

Key words:
renal cysts and diabetes syndrome, MODY5, hypomagnesemia, chronic renal insufficiency


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Labels
Neonatology Paediatrics General practitioner for children and adolescents
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