ECE2017 Eposter Presentations: Interdisciplinary Endocrinology Paediatric endocrinology (8 abstracts)
A novel p.H80Y mutation in the AVPR2 gene causing congenital nephrogenic diabetes insipidus
Tugce Karaduman 1 , Merve Ozcan 1 , Aslı Celebi Tayfur 2 , Emel Saglar 1 , Beril Erdem 1 , Dilara Sahin 1 , Aysun Caltık Yılmaz 2 , Bahar Buyukkaragoz 2 , Ayse Derya Bulus 3 & Hatice Mergen 1
1Hacettepe University, Faculty of Science, Department of Biology, Ankara, Turkey; 2Kecioren Training and Research Hospital, Pediatric Nephrology, Ankara, Turkey; 3Kecioren Training and Research Hospital, Infant Endocrinology Clinic, Ankara, Turkey.
: X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by a defect in the vasopressin V2 receptor in renal collecting duct cells which is encoded by the AVPR2 gene (Xq28). More than 200 mutations have been found comprising missense, nonsense, small insertions and deletions, large deletions and complex rearrangements in AVPR2 gene to date. In this study, a 6-year-old boy was referred to the Pediatric Nephrology Department of Kecioren Research and Training Hospital for abnormal fluid intake (5 l/day) and diuresis (4.3 l/day) which was noted to have started in the first few days of life. He had normal serum sodium concentration (142 mmol/l), high serum osmolality (311 mOsm/l), low urinary osmolality (129 mOsm/kg), and hyponatriuria (15 mmol/l) on admission. The water deprivation test was stopped due to weight loss higher than %3 at 3.5th hour of the test. The plasma vasopressin (16.75 pmol/l, range:0–13) drawn at the conclusion of the dehydration test was high, and the urine parameters showed little insignificant changes. The desmopressin challenge test did not affect the urine parameters, either. There was a continuous high urine output, low urine osmolality and impaired ability to increase urine osmolality to normal levels after ADH administration. The AVPR2 gene of this patient was sequenced with ABI310 and revealed a novel hemizygous missense mutation causing a conversion of the histidine residue to tyrosine in the protein sequence, at the position 80th in exon 2. We suggest that bioinformatical analysis and functional characterization studies will enlight the function of the mutant AVPR2 protein. This research was funded by The Scientific and Technological Research Council of Turkey (SBAG Project Numbers: 112S513 and 115S499).
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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