Somatic PKD2 mutations in individual kidney and liver cysts support a “two-hit” model of cystogenesis in type 2 autosomal dominant polycystic kidney disease
Y Pei, T Watnick, N He, K Wang… - Journal of the …, 1999 - journals.lww.com
An intriguing feature of autosomal dominant polycystic kidney disease (ADPKD) is the focal
and sporadic formation of renal and extrarenal cysts. Recent documentation of somatic
PKD1 mutations in cystic epithelia of patients with germ-line PKD1 mutations suggests a
“two-hit” model for cystogenesis in type 1 ADPKD. This study tests whether the same
mechanism for cystogenesis might also occur in type 2 ADPKD. Genomic DNA was obtained
from 54 kidney and liver cysts from three patients with known germ-line PKD2 mutations …
and sporadic formation of renal and extrarenal cysts. Recent documentation of somatic
PKD1 mutations in cystic epithelia of patients with germ-line PKD1 mutations suggests a
“two-hit” model for cystogenesis in type 1 ADPKD. This study tests whether the same
mechanism for cystogenesis might also occur in type 2 ADPKD. Genomic DNA was obtained
from 54 kidney and liver cysts from three patients with known germ-line PKD2 mutations …