Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the antidiuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. We report a novel AVPR2 mutation in a Turkish 18 month-old boy with skeletal anomalies.
Sakallioglu
Onur
O
Department ofPediatrics, Gulhane Military Academy ofMedicine, Etlik Ankara, Turkey. onursakallioglu@hotmail.com
Tascilar
Mehmet Emre
ME
Kalman
Suleyman
S
Cheong
Hae Il
HI
Atay
Abdullah Avni
AA
D041321:Chromosomes, Human, X / Q000235:genetics; D004252:DNA Mutational Analysis; D018500:Diabetes Insipidus, Nephrogenic / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009035:Mothers; D010375:Pedigree; D011859:Radiography; D017483:Receptors, Vasopressin / Q000235:genetics*; D012600:Scoliosis / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics
D017483:Receptors, Vasopressin