Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

摘要: Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, addition to the familial mutation, variation(s) 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from unaffected parent, biallelic and hepatic (PKHD1) mutations. To assess frequency additional variations PKD1, PKD2, HNF1B, PKHD1 associated with PKD mutation early ADPKD, these four genes were screened 42 ADPKD 41 families. Two de novo PKD1 Forty occurred 39 families known 36 PKD2 two (no identified one family). Additional (inherited parent when tested) 15 (37.2%), whereas observed 25 174 (14.4%, P=0.001) adult ADPKD. No HNF1B mutations identified. These results suggest that, at least patients, severity cystic is inversely correlated level polycystin function.