X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study.

  title={X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study.},
  author={Che Hong and Hee Gyung Kang and Hyun Jin Choi and Min Hyun Cho and Jung Won Lee and Ju Hyung Kang and Hye Won Park and Ja Wook Koo and Tae-Sun Ha and Su-Yung Kim and Hae Il Cheong},
  journal={Journal of pediatric endocrinology & metabolism : JPEM},
  volume={27 1-2},
A retrospective genotype and phenotype analysis of X-linked congenital nephrogenic diabetes insipidus (NDI) was conducted on a nationwide cohort of 25 (24 male, 1 female) Korean children with AVPR2 gene mutations, comparing non-truncating and truncating mutations. In an analysis of male patients, the median age at diagnosis was 0.9 years old. At a median follow-up of 5.4 years, urinary tract dilatations were evident in 62% of patients and their median glomerular filtration rate was 72 mL/min/1… CONTINUE READING
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