A case of a novel mutant vasopressin receptor-dependent nephrogenic diabetes insipidus with bilateral non-obstructive hydronephrosis in a middle aged man: differentiation from aquaporin-dependent nephrogenic diabetes insipidus by response of factor VII and von Willebrand factor to 1-diamino-8-arginine vasopressin administration.
We describe a case of a novel mutant vasopressin 2 receptor (V2R)-dependent nephrogenic diabetes insipidus (NDI) with bilateral non-obstructive hydronephrosis in a middle aged man. This could be distinguished from aquaporin 2 (AQP2)-dependent NDI by the response of factor VIII and von Willebrand factor (vWF) to 1-deamino-8-D-arginine vasopressin (DDAVP) administration. A 47-year-old man was admitted to hospital because of polyuria, which had been present from infancy and was suspected of causing non-obstructive hydronephrosis. His mother's father, the older brother of his mother and his second daughter also all had polyuria. Sodium concentration, osmolality and vasopressin in blood were high, while sodium concentration and osmolality in urine were low. There were no changes in urine osmolality, factor VIII and vWF in response to DDAVP infusion. Neither was heart rate, diastolic blood pressure nor facial flushing affected. These findings suggested this case was V2R-dependent NDI rather than AQP2-dependent NDI. Molecular genetic analysis demonstrated that the patient had a V2R missense mutation involving a substitution of cysteine for arginine at position 104 (R104C) located in the first extracellular loop of the V2R. It was also found that the patient's mother and his second daughter were heterozygous for this R104C mutation.
Miyakoshi
Masashi
M
The Department of Internal Medicine, Division of Endocrine and Metabolism, Nagaoka Red Cross Hospital, Niigata, Japan.
Kamoi
Kyuzi
K
Uchida
Shinichi
S
Sasaki
Sei
S
D051399:Aquaporin 2; D020346:Aquaporins / Q000235:genetics; D001120:Arginine; D001483:Base Sequence; D003545:Cysteine; D003894:Deamino Arginine Vasopressin; D018500:Diabetes Insipidus, Nephrogenic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005169:Factor VIII / Q000032:analysis; D006801:Humans; D006869:Hydronephrosis / Q000150:complications*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D020033:Protein Isoforms / Q000235:genetics; D017483:Receptors, Vasopressin / Q000235:genetics*; D012076:Renal Agents; D014841:von Willebrand Factor / Q000032:analysis
C496023:AQP2 protein, human; D051399:Aquaporin 2; D020346:Aquaporins; D020033:Protein Isoforms; D017483:Receptors, Vasopressin; D012076:Renal Agents; D014841:von Willebrand Factor; D005169:Factor VIII; D001120:Arginine; D003894:Deamino Arginine Vasopressin; D003545:Cysteine