[Cystic kidney disease and diabetes--an underdiagnosed monogenic developmental disorder]

Duodecim. 2012;128(19):1999-2006.
[Article in Finnish]

Abstract

Heterozygous mutations in the TCF2 gene encoding the transcription factor HNF-11 cause a dominantly inherited developmental disorder that may be associated with various dysplastic and cystic lesions of the kidneys and renal insufficiency, disorder of pancreatic development and insulin-deficient MODY diabetes, aberrant hepatic enzyme levels, gout and genital anomalies. Symptoms and findings vary in their degree of severity. When an isolated abnormality is detected, recognition of the syndrome is essential in order to diagnose the other organ manifestations. Since the mid-2000's, 10 to 20 patients have been diagnosed in Finland.

Publication types

  • English Abstract

MeSH terms

  • Diabetes Mellitus / epidemiology
  • Diabetes Mellitus / genetics
  • Finland / epidemiology
  • Hepatocyte Nuclear Factor 1-beta / genetics*
  • Heterozygote
  • Humans
  • Kidney Diseases, Cystic / epidemiology
  • Kidney Diseases, Cystic / genetics*
  • Mutation*

Substances

  • HNF1B protein, human
  • Hepatocyte Nuclear Factor 1-beta