title: Clinical characteristics of eight patients with congenital nephrogenic diabetes insipidus.
abstract: Congenital nephrogenic diabetes insipidus (NDI) is characterized by the insensitivity of the distal nephron to arginine vasopressin. Clinical knowledge of this disease is based largely on case reports. For this study, we investigated the clinical findings of eight patients in terms of age at onset, age at diagnosis, main complaint, results of physical examination, the diagnosis, the effect of treatment, kidney function, and presence or absence of gene defects. The main complaints of all eight cases at initial examination were unknown fever, failure to thrive, and short stature. Polyuria and polydipsia are not always the chief complaints with congenital NDI. In one case, diabetes insipidus could be diagnosed based only on the results of a 5% hypertonic saline test. In six cases, we found abnormalities in the V2 receptor gene. Initially, trichlormethiazide therapy was shown to have a significant effect on polyuria; however, this effect decreased over time. In one patient with partial NDI, the addition of trichlormethiazide twice a day to 1-desamino-8-D-arginine vasopressin increased urine osmolality in the morning and caused nocturia to disappear. Results of 99mTc-diethylenetriamine pentaacetic acid kidney scintigraphy revealed a slight decrease in glomerular filtration rate in three patients. No patient experienced serious renal dysfunction.
authors.affiliation: Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences, Nagoya, Japon. hamizuno@med.nagoya-cu.ac.jp
authors.forename: Haruo
authors.initials: H
authors.lastname: Mizuno
authors.forename: Yukari
authors.initials: Y
authors.lastname: Sugiyama
authors.forename: Yoichiro
authors.initials: Y
authors.lastname: Ohro
authors.forename: Hiroki
authors.initials: H
authors.lastname: Imamine
authors.forename: Masanori
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Sei
authors.initials: S
authors.lastname: Sasaki
authors.forename: Sinichi
authors.initials: S
authors.lastname: Uchida
authors.forename: Hajime
authors.initials: H
authors.lastname: Togari
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000959:Antihypertensive Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D018500:Diabetes Insipidus, Nephrogenic / Q000151:congenital* / Q000175:diagnosis* / Q000188:drug therapy; D004232:Diuretics; D005919:Glomerular Filtration Rate; D006490:Hemostatics / Q000627:therapeutic use; D006801:Humans; D008297:Male; D009994:Osmolar Concentration; D019275:Radiopharmaceuticals; D017483:Receptors, Vasopressin / Q000235:genetics; D012076:Renal Agents / Q000627:therapeutic use; D012462:Saline Solution, Hypertonic; D049993:Sodium Chloride Symporter Inhibitors / Q000627:therapeutic use; D016284:Technetium Tc 99m Pentetate; D014237:Trichlormethiazide / Q000627:therapeutic use
chemical_list: D000959:Antihypertensive Agents; D004232:Diuretics; D006490:Hemostatics; D019275:Radiopharmaceuticals; D017483:Receptors, Vasopressin; D012076:Renal Agents; D012462:Saline Solution, Hypertonic; D049993:Sodium Chloride Symporter Inhibitors; D003894:Deamino Arginine Vasopressin; D014237:Trichlormethiazide; D016284:Technetium Tc 99m Pentetate