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

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