Renal Cysts and Diabetes Syndrome (RCAD)
摘要
Renal Cysts and Diabetes Syndrome (RCAD), also known as maturity-onset diabetes of the young (MODY) 5, is a rare and complex genetic disorder characterized by renal abnormalities, including the presence of cysts, and early onset diabetes. The condition was first identified in the 1990s when mutations in the Hepatocyte Nuclear Factor-1 beta (HNF1β) gene were linked to young-onset diabetes (Horikawa et al. 1997), which is located on chromosome 17q12. Human transcription factor 2 gene (TCF2) consists of nine exons and encodes the 557-amino acid HNF1β.