title: X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study.
abstract: 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.
authors.forename: Che Ry
authors.initials: CR
authors.lastname: Hong
authors.forename: Hee Gyung
authors.initials: HG
authors.lastname: Kang
authors.forename: Hyun Jin
authors.initials: HJ
authors.lastname: Choi
authors.forename: Min Hyun
authors.initials: MH
authors.lastname: Cho
authors.forename: Jung Won
authors.initials: JW
authors.lastname: Lee
authors.forename: Ju Hyung
authors.initials: JH
authors.lastname: Kang
authors.forename: Hye Won
authors.initials: HW
authors.lastname: Park
authors.forename: Ja Wook
authors.initials: JW
authors.lastname: Koo
authors.forename: Tae-Sun
authors.initials: TS
authors.lastname: Ha
authors.forename: Su-Yung
authors.initials: SY
authors.lastname: Kim
authors.forename: Hae
authors.initials: H
authors.lastname: Il Cheong
mesh_terms: D002648:Child; D002675:Child, Preschool; D018500:Diabetes Insipidus, Nephrogenic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005919:Glomerular Filtration Rate; D006128:Growth; D006801:Humans; D007223:Infant; D008297:Male; D017483:Receptors, Vasopressin / Q000235:genetics; D056910:Republic of Korea
chemical_list: C585768:AVPR2 protein, human; D017483:Receptors, Vasopressin