Different phenotypes of HNF1 beta deletion mutants in familial multicystic dysplastic kidneys

作者：Hasui Masafumi; Kaneko Kazunari^*; Tsuji Shoji; Isozaki Yuka; Kimata Takahisa; Nozu Yoshimi; Nozu Kandai; Iijima Kazumoto

来源：Clinical Nephrology, 2013, 79(6): 484-487.

DOI：10.5414/CN107136

• bilateral multicystic dysplastic kidney
• HNF1 beta
• multiple ligation dependent probe amplification assays
• familial occurrence

Multicystic dysplastic kidney (MCDK) is one of the most common congenital abnormalities of the kidney and urinary tract (CAKUT), although its pathophysiology remains unknown. Familial occurrence of MCDK suggests that mutations in genes associated with nephrogenesis are involved in the pathogenesis in at least some cases. Hepatocyte nuclear factor 1 beta (HNF1 beta) is a member of the homeodomain-containing super family of transcription factors, and is known to regulate tissue-specific gene expression in a number of organs including the kidneys, pancreas and liver. It has been recently postulated to be associated with CAKUT, including MCDK. We recently encountered a family with a deletion mutant of HNF1 beta, of which the 2nd son, the proband, developed bilateral MCDK resulting in renal loss of function in infancy while the 1st son developed unilateral MCDK. Their father has two normal kidneys. This family confirmed that mutations in the HNF1 beta gene are strongly associated with the development of MCDK. Furthermore, the fact that no clear phenotype-genotype correlation exists suggests that gene(s) other than HNF1 beta are also involved in nephrogenesis and the development of MCDK.

• 出版日期2013-6