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A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.
Physiol Rep. 2016 Apr; 4(8)PR

Abstract

Mutations in the vasopressin V2 receptor gene AVPR2 may cause X-linked nephrogenic diabetes insipidus by defective apical insertion of aquaporin-2 in the renal collecting duct principal cell. Substitution mutations with exchange of arginine at codon 137 can cause nephrogenic syndrome of inappropriate antidiuresis or congenital X-linked nephrogenic diabetes insipidus. We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins. Nephrogenic diabetes insipidus was demonstrated by water deprivation test and resistance to vasopressin administration. While a similar urine exosome release rate was shown between probands and controls by western blotting for the marker ALIX, there was a selective decrease in exosome aquaporin-2 versus aquaporin-1 protein in probands compared to controls.

Authors+Show Affiliations

Department of Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark ghinrichs@health.sdu.dk.Anaesthesiology and Intensive Care, Odense University Hospital, Odense, Denmark.Department of Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.Clinical Genetics, Odense University Hospital, Odense, Denmark.Department of Nephrology, Odense University Hospital, Odense, Denmark.Department of Paediatrics, Aarhus University Hospital, Aarhus, Denmark.Department of Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

27117808

Citation

Hinrichs, Gitte R., et al. "A Novel Mutation Affecting the Arginine-137 Residue of AVPR2 in Dizygous Twins Leads to Nephrogenic Diabetes Insipidus and Attenuated Urine Exosome Aquaporin-2." Physiological Reports, vol. 4, no. 8, 2016.
Hinrichs GR, Hansen LH, Nielsen MR, et al. A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2. Physiol Rep. 2016;4(8).
Hinrichs, G. R., Hansen, L. H., Nielsen, M. R., Fagerberg, C., Dieperink, H., Rittig, S., & Jensen, B. L. (2016). A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2. Physiological Reports, 4(8). https://doi.org/10.14814/phy2.12764
Hinrichs GR, et al. A Novel Mutation Affecting the Arginine-137 Residue of AVPR2 in Dizygous Twins Leads to Nephrogenic Diabetes Insipidus and Attenuated Urine Exosome Aquaporin-2. Physiol Rep. 2016;4(8) PubMed PMID: 27117808.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2. AU - Hinrichs,Gitte R, AU - Hansen,Louise H, AU - Nielsen,Maria R, AU - Fagerberg,Christina, AU - Dieperink,Hans, AU - Rittig,Søren, AU - Jensen,Boye L, PY - 2015/12/17/received PY - 2016/03/21/accepted PY - 2016/4/28/entrez PY - 2016/4/28/pubmed PY - 2016/4/28/medline KW - ALIX KW - dehydration KW - receptor KW - vasopressin JF - Physiological reports JO - Physiol Rep VL - 4 IS - 8 N2 - Mutations in the vasopressin V2 receptor gene AVPR2 may cause X-linked nephrogenic diabetes insipidus by defective apical insertion of aquaporin-2 in the renal collecting duct principal cell. Substitution mutations with exchange of arginine at codon 137 can cause nephrogenic syndrome of inappropriate antidiuresis or congenital X-linked nephrogenic diabetes insipidus. We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins. Nephrogenic diabetes insipidus was demonstrated by water deprivation test and resistance to vasopressin administration. While a similar urine exosome release rate was shown between probands and controls by western blotting for the marker ALIX, there was a selective decrease in exosome aquaporin-2 versus aquaporin-1 protein in probands compared to controls. SN - 2051-817X UR - https://www.unboundmedicine.com/medline/citation/27117808/A_novel_mutation_affecting_the_arginine_137_residue_of_AVPR2_in_dizygous_twins_leads_to_nephrogenic_diabetes_insipidus_and_attenuated_urine_exosome_aquaporin_2_ L2 - https://doi.org/10.14814/phy2.12764 DB - PRIME DP - Unbound Medicine ER -