Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus

1996 ◽  
Vol 98 (5) ◽  
pp. 587-589 ◽  
Author(s):  
Alexander Oksche ◽  
Andreas Möller ◽  
John Dickson ◽  
Werner Rosendahl ◽  
Wolfgang Rascher ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutations ◽  
Aquaporin 2 ◽  
Vasopressin V2 Receptor ◽  
Congenital Nephrogenic Diabetes Insipidus ◽  
V2 Receptor

scholarly journals Two Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus

2005 ◽  
Vol 20 (6) ◽  
pp. 1076 ◽  
Author(s):  
Hae Il Cheong ◽  
Su Jin Cho ◽  
Shou Huan Zheng ◽  
Hee Yeon Cho ◽  
Il Soo Ha ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutations ◽  
Aquaporin 2 ◽  
Congenital Nephrogenic Diabetes Insipidus

scholarly journals Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

1997 ◽  
Vol 8 (12) ◽  
pp. 1855-1862 ◽  
Author(s):  
R Vargas-Poussou ◽  
L Forestier ◽  
M D Dautzenberg ◽  
P Niaudet ◽  
M Déchaux ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Direct Sequencing ◽  
Receptor Gene ◽  
Single Strand Conformational Polymorphism ◽  
Aquaporin 2 ◽  
Congenital Nephrogenic Diabetes Insipidus ◽  
V2 Receptor ◽  
Aqp2 Gene

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by renal tubular insensitivity to the antidiuretic effect of arginine vasopressin (AVP). In a large majority of the cases, nephrogenic diabetes insipidus is an X-linked recessive disorder caused by mutations in the AVP V2 receptor gene (AVPR2). In the remaining cases, the disease is autosomal recessive or dominant and, for these patients, mutations in the aquaporin 2 gene (AQP2) have been reported. Fourteen probands belonging to 12 families were analyzed by single-strand conformational polymorphism and direct sequencing of the AVPR2 and AQP2 genes. Ten mutations of the AVPR2 gene (six previously reported mutations and four novel mutations: G107E, W193X, L43P, and 15delC) were identified. Three mutations of the AQP2 gene were also identified in two patients: the first patient is homozygous for the R85X mutation and the second is a compound heterozygote for V168 M and S216P mutations. Extrarenal responses to infusion of the strong V2 agonist 1-desamino-8-D-arginine vasopressin allowed AVPR2- and AQP2-associated forms of CNDI to be distinguished in three patients. This test also identified an unexpectedly high urinary osmolality (614 mosmol/kg) in a patient with a P322S mutation of AVPR2 gene and a mild form of CNDI.

scholarly journals SAT-238 Congenital Nephrogenic Diabetes Insipidus with First Presentation as an Adult: A Case Report

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Yuan-yuan Liu ◽  
Peter Sargious ◽  
Gregory A Kline ◽  
Alexander A Leung
Keyword(s):  
Case Report ◽  
Family History ◽  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Abdominal Hernia ◽  
Mild Phenotype ◽  
Vasopressin V2 Receptor ◽  
Congenital Nephrogenic Diabetes Insipidus ◽  
V2 Receptor

Abstract Congenital Nephrogenic Diabetes Insipidus with First Presentation as an Adult: A Case Report Background: Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited condition, usually presenting during the first year of life. It is characterized by a renal insensitivity to arginine vasopressin. About 90% of patients are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. Females are typically asymptomatic. Here, we report female case of NDI initially presenting and diagnosed in an adult woman. Clinical Case: A previously well 47-year-old woman of Italian descent underwent an elective laparoscopic repair of an abdominal hernia. Her medical history included obesity and migraine headaches. She was not taking any medications prior to admission. She had a bowel perforation 6 days after surgery, necessitating an emergency right hemicolectomy and small bowel resection. Upon instituting bowel rest with nil per os (NPO), she developed severe hypernatremia (Na+ 163 mmol/L) with polyuria (>6 L/day) and dilute urine (osmolality 174 mmol/kg). Further inquiry revealed that the patient routinely drank at least 10 L/day of fluids throughout her entire adult life. Her family history was remarkable for polydipsia affecting at least additional six people across three generations (including her son, her mother, 3 maternal uncles and 1 nephew). Following administration of desmopressin 1 ug subcutaneously, her urine remained inappropriately dilute (osmolality 160 mmol/kg) with no significant change in urine output (rate 350 mL/h for 3 hours). Her arginine vasopressin level was detectable (3.2 pmol/L, reference range 0.8–3.5 pmol/L), consistent with nephrogenic diabetes insipidus. Subsequent molecular analysis of the AVPR2 gene, located on chromosome Xq28, confirmed a pathogenic mutation (c.253G>A), consistent with a p.Asp85Asn substitution resulting in decreased binding affinity between the V2 receptor and arginine vasopressin. Thus, X-linked NDI was diagnosed according to the patient’s presentation, compatible family history, and genetic analysis. When she was able to eat and drink ad lib again, a low-salt, low-protein diet along with a trial of a thiazide diuretic were recommended. The patient remained well with 3 years of follow-up. Conclusion: The diagnosis of congenital NDI may be delayed until adulthood because of a relatively mild phenotype and compensatory drinking behavior, so that the disorder will not be clinically apparent until a person is deprived of free water. Men and women alike can be affected by this X-linked dominant condition which should be considered in any polyuric, hypernatremic hospitalized patient.

scholarly journals A family of congenital nephrogenic diabetes insipidus with molecular defect in the vasopressin V2 receptor gene

1994 ◽  
Vol 7 (2) ◽  
pp. 179-183
Author(s):  
Toru Watanabe ◽  
Toshie Ishizuka ◽  
Tokinari Abe ◽  
Masahisa Sato ◽  
Yoshihiko Oda ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Receptor Gene ◽  
Molecular Defect ◽  
Vasopressin V2 Receptor ◽  
Congenital Nephrogenic Diabetes Insipidus ◽  
V2 Receptor ◽  
V2 Receptor Gene

Six Novel Mutations in the Vasopressin V2 Receptor Gene Causing Nephrogenic Diabetes insipidus

Nephron ◽  
1997 ◽  
Vol 75 (4) ◽  
pp. 431-437 ◽  
Author(s):  
Hae Il Cheong ◽  
Hye Won Park ◽  
Il Soo Ha ◽  
HyungNam Moon ◽  
Yong Choi ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Receptor Gene ◽  
Novel Mutations ◽  
Vasopressin V2 Receptor ◽  
V2 Receptor ◽  
V2 Receptor Gene
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