Genetic Testing for Maturity-Onset Diabetes of the Young
Mutations in HNF1B most often cause hereditary developmental renal disease, particularly cystic disease. HNF1B mutations can also cause isolated diabetes or diabetes associated with kidney disease [renal cysts and diabetes (RCAD) syndrome]. Urogenital tract anomalies and atrophy of the pancreas may also occur. As HNF1B mutations will not necessarily cause diabetes in all carriers, the pedigree of dominantly inherited diabetes typical of MODY may be absent in HNF1B diabetes. However, the co-segregation of diabetes and developmental kidney disease in an individual and within a pedigree identifies individuals likely to have HNF1B diabetes.
HNF1B MODY
Mutations in HNF1B most often cause hereditary developmental renal disease, particularly cystic disease. HNF1B mutations can also cause isolated diabetes or diabetes associated with kidney disease [renal cysts and diabetes (RCAD) syndrome]. Urogenital tract anomalies and atrophy of the pancreas may also occur. As HNF1B mutations will not necessarily cause diabetes in all carriers, the pedigree of dominantly inherited diabetes typical of MODY may be absent in HNF1B diabetes. However, the co-segregation of diabetes and developmental kidney disease in an individual and within a pedigree identifies individuals likely to have HNF1B diabetes.
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