Please use this identifier to cite or link to this item:
https://hdl.handle.net/11499/8313
Title: | Analysis of a novel AVPR2 mutation in a Turkish family with nephrogenic diabetes insipidus | Authors: | Yaylalı, Güzin Fidan Bichet, D.G. Okur, Volkan Levin, K. Semerci, C. Nur |
Keywords: | AVPR2 Mutation Nephrogenic diabetes insipitus X-linked recessive disorder argipressin receptor desmopressin DNA hydrochlorothiazide indometacin prostaglandin synthase inhibitor adult article AVPR2 gene bladder distension case report clinical feature DNA sequence drug withdrawal echography family history genetic analysis human hydronephrosis intravenous pyelography laboratory test male missense mutation nephrogenic diabetes insipidus nucleotide sequence phenotype physical examination polydipsia polyuria sequence analysis Turkey (republic) urine osmolality urine volume water deprivation |
Publisher: | Kamla-Raj Enterprises | Abstract: | Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive disorder associated with germline mutations of the arginine vasopressin (AVP) receptor type 2 (AVPR2) gene. The researchers describe a novel mutation in the AVPR2 gene in a three-generational Turkish family with NDI. In the present report, a 22-year-old man is reported with polyuria and bilateral non-obstructive hydronephrosis. He was diagnosed with partial NDI based on the clinical phenotype, the water deprivation test and the inadequate response to 1-desamino-8-Darginine vasopressin (DDAVP) administration. All family members who were suspected to have diabetes insipidus and/or related symptoms were studied. Sequencing analysis of the AVPR2 gene revealed the novel missense mutation c.392 T>C; p. Leu 131 Pro:L131P (AVPR2 gene (coding seq # NM_000054.4;prot seq # NP_000045.1). In conclusion, the proband carries a novel AVPR2 missense mutation inherited from his carrier mother. © Kamla-Raj 2013. | URI: | https://hdl.handle.net/11499/8313 https://doi.org/10.1080/09723757.2013.11886213 |
ISSN: | 0972-3757 |
Appears in Collections: | Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
Show full item record
CORE Recommender
Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.