title: Familial central diabetes insipidus detected by nocturnal enuresis.
abstract: A 10-year-old male referred to our clinic with the chief complaint of nocturnal enuresis also complained of daytime polyuria, frequency, and polydipsia. The clinical diagnosis was central diabetes insipidus. Since the patient's father had complained of similar symptoms, the arginine vasopressin-neurophysin II gene was examined. This revealed a single base substitution in one of two alleles in the patient, his father, and his grandfather (a C to T transition at nucleotide position 280 at codon 19 in the first exon). In conclusion, a history of polyuria or polydipsia should be carefully noted and the urinary volume and urine gravity or osmolarity examined in cases of nocturnal enuresis.
authors.affiliation: Department of Urology, Kyoto Prefectural University of Medicine, Kawaramachi-Hirokoji, Kyoto 602-8566, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Kanemitsu
authors.forename: Akihiro
authors.initials: A
authors.lastname: Kawauchi
authors.forename: Masaya
authors.initials: M
authors.lastname: Nishida
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Tanaka
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Mizutani
authors.forename: Shuya
authors.initials: S
authors.lastname: Shirahama
authors.forename: Tsuneharu
authors.initials: T
authors.lastname: Miki
mesh_terms: D001127:Arginine Vasopressin / Q000235:genetics; D001921:Brain / Q000473:pathology; D002648:Child; D004247:DNA / Q000235:genetics; D003894:Deamino Arginine Vasopressin; D020790:Diabetes Insipidus, Neurogenic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004775:Enuresis / Q000209:etiology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009481:Neurophysins / Q000235:genetics; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012462:Saline Solution, Hypertonic
chemical_list: D009481:Neurophysins; D012462:Saline Solution, Hypertonic; D001127:Arginine Vasopressin; D004247:DNA; D003894:Deamino Arginine Vasopressin