Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Renal cysts and diabetes (RCAD)

RCAD, renal cysts and diabetes an autosomal dominant disorder of glucose metabolism and kidney development. The disease is caused by mutations of TCF2 gene better known as HNF1-beta (HNF1B). The great variability of symptoms accounts for family members with renal symptoms or diabetes only. Also hypomagnesemia is a common symptom.

Test Strategy

In families with kidney dysplasias and type 2 diabetes this disease can be suspected. This suspicion would further supported if there is no association with metabolic syndrome in diabetic individuals.


The gene codes a transcription factor that is involved in cell regulation during kidney development and insulin secretion.


Malformations of the urinary tract
Malformations in RCAD are predominantly cystic. Because apparent soon after birth, they precede diabetes.
Renal cysts
renal cysts in RCAD are not necessarily symmetrical.
Hypomagnesemia is observed in most of the patients with RCAD though it is not a symptom that dominates the clinical picture.


Cystic kidney disease
Alagille syndrome 2
Autosomal dominant polycystic kidney disease
Autosomal recessive polycystic kidney and hepatic disease 1
Branchiootorenal dysplasia
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hajdu-Cheney syndrome
Medullary cystic disease complex
Polycystic kidney disease with hyperinsulinemic hypoglycemia
Renal cysts and diabetes (RCAD)



Kolatsi-Joannou M et al. (2001) Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.

external link

Bingham C et al. (2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

external link

Adalat S et al. (2009) HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

external link

OMIM.ORG article

Omim 137920 external link
Update: Aug. 14, 2020
Copyright © 2005-2021 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues