X-linked recessive nephrogenic diabetes insipidus: A clinico-genetic study

Che Ry Hong, Hee Gyung Kang, Hyun Jin Choi, Min Hyun Cho, Jung Won Lee, Ju Hyung Kang, Hye Won Park, Ja Wook Koo, Tae Sun Ha, Su Yung Kim, Hae Il Cheong

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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/1.73 m2. Weights and heights were under the 3rd percentile in 22% and 33% of patients, respectively. One patient had low intelligence quotient and another developed end-stage renal disease. No statistically significant genotype-phenotype correlation was found between non-truncating and truncating mutations. One patient was female; she was analyzed separately because inactivation and mosaicism of the X chromosome may influence clinical manifestations in female patients. Current unsatisfactory long-term outcome of congenital NDI necessitates a novel therapeutic strategy.

Original languageEnglish
Pages (from-to)93-99
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number1-2
StatePublished - Jan 2014

Bibliographical note

Funding Information:
Acknowledgments: This study was supported by a grant (A120017) from the Korea Healthcare technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea.


  • AVPR2 gene
  • Development
  • Growth
  • Renal function
  • Urinary tract dilatation
  • X-linked recessive nephrogenic diabetes insipidus


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