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Endocrine Abstracts (2016) 41 EP420 | DOI: 10.1530/endoabs.41.EP420

1Department of Biology, Faculty of Science, Hacettepe University, Beytepe, Ankara 06800, Turkey; 2Department of Endocrinology and Metabolism, GATA Haydarpasa Teaching Hospital, Istanbul 34668, Turkey.


Diabetes insipidus (DI) is a disorder which is rarely seen and it is characterized by polydipsia and polyuria. Inadequate secretion of arginine vasopressin (AVP) from hypothalamus or inadequate response of kidney cells to AVP could be causes of DI. Therefore, any mutations in AVPR2, AVP and AQP2 genes which are the parts of that stimulation and response pathyway can cause DI. In this study, mutational analyse was performed for A45T mutation in AQP2 gene. We present a novel homozygous missense mutation at codon 45, which causes the substitution of Ala (GCC) by a Thr (ACC) in exon 1 in a male Turkish patient with nephrogenic diabetes insipidus (NDI). Some of family members of this patient had also polyuria, nocturia, polydipsia, fatigue as well. The patient had severe polyuria polydipsia, fatique, and deep thirstiness from his infancy. While being performed water deprivation test, diagnosis of NDI was confirmed according to increase in urine osmolality after desmopressin acetate injection. We also did some bioinformatical analysis and we predicted three-dimensional structure of the mutant AQP2 protein. We suggest that functional characterization studies will enlight the function of the mutant AQP2 protein.

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