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Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).
Best Pract Res Clin Endocrinol Metab. 2016 03; 30(2):263-76.BP

Abstract

Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration.

Authors+Show Affiliations

Department of Medicine, Université de Montréal, Canada; Department of Molecular and Integrative Physiology, Université de Montréal, Canada; Hôpital du Sacré-Coeur de Montréal, 5400 Boul. Gouin Ouest, Montréal, QC, Canada H4J 1C5. Electronic address: daniel.bichet@umontreal.ca.UCL Institute of Child Health, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address: d.bockenhauer@ucl.ac.uk.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

27156763

Citation

Bichet, Daniel G., and Detlef Bockenhauer. "Genetic Forms of Nephrogenic Diabetes Insipidus (NDI): Vasopressin Receptor Defect (X-linked) and Aquaporin Defect (autosomal Recessive and Dominant)." Best Practice & Research. Clinical Endocrinology & Metabolism, vol. 30, no. 2, 2016, pp. 263-76.
Bichet DG, Bockenhauer D. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). Best Pract Res Clin Endocrinol Metab. 2016;30(2):263-76.
Bichet, D. G., & Bockenhauer, D. (2016). Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). Best Practice & Research. Clinical Endocrinology & Metabolism, 30(2), 263-76. https://doi.org/10.1016/j.beem.2016.02.010
Bichet DG, Bockenhauer D. Genetic Forms of Nephrogenic Diabetes Insipidus (NDI): Vasopressin Receptor Defect (X-linked) and Aquaporin Defect (autosomal Recessive and Dominant). Best Pract Res Clin Endocrinol Metab. 2016;30(2):263-76. PubMed PMID: 27156763.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). AU - Bichet,Daniel G, AU - Bockenhauer,Detlef, Y1 - 2016/03/02/ PY - 2016/5/10/entrez PY - 2016/5/10/pubmed PY - 2017/6/7/medline KW - AQP2 KW - AVPR2 KW - Autosomal recessive nephrogenic diabetes insipidus KW - Cyclic AMP KW - Dehydration KW - Misfolded proteins KW - Nephrogenic diabetes insipidus KW - X-linked nephrogenic diabetes insipidus SP - 263 EP - 76 JF - Best practice & research. Clinical endocrinology & metabolism JO - Best Pract. Res. Clin. Endocrinol. Metab. VL - 30 IS - 2 N2 - Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. SN - 1878-1594 UR - https://www.unboundmedicine.com/medline/citation/27156763/Genetic_forms_of_nephrogenic_diabetes_insipidus__NDI_:_Vasopressin_receptor_defect__X_linked__and_aquaporin_defect__autosomal_recessive_and_dominant__ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1521-690X(16)00015-4 DB - PRIME DP - Unbound Medicine ER -