Endocrine Abstracts

Diabetes insipidus (DI) is a disorder that characterized by producing large volume of urine for daily due to the problems at the arginine vasopressin (AVP-NPII), aquaporin 2 (AQP2) and arginine vasopressin receptor 2 (AVPR2) genes. These problems can be inherited or acquired. Among these genes, AVPR2 is a G protein coupled receptor and most of the inherited type of DI are caused by mutations in AVPR2 gene. Mutations can cause improper folding of the receptor protein and this s...

Diabetes insipidus (DI) is a rare disorder which is characterized with inability to concentrate urine because of severe liquid-balance impairment. Mutations in AVPR2 gene is one of the causes of DI. AVPR2 is a G protein coupled receptor (GPCR) and its specific agonist is arginine vasopressin (AVP). When AVP binds to the AVPR2, which locates on the basolateral side of collecting duct principal cells of the kidney, it triggers accumulation of cAMP in the cell as a seconder messe...

Changes in arginine vazopression type 2 receptor (AVPR2) gene mostly lead to a rare hereditary polyuric disease, X-linked nephrogenic diabetes insipidus (NDI). The disease is characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. In our previous study we have identified a novel 388 bp deletion in the AVPR2 gene in a patient with NDI and in his family. For fu...

: 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...

Familial central or neurohypophyseal diabetes insipidus (FNDI) results from insufficient production of antidiuretic hormone arginine vasopressin, which is caused by mutations in arginine vasopressin-neurophysin II gene (AVP-NPII). In this study, we present the clinical features of a male Turkish patient with autosomal dominant neurohypophyseal DI caused by a novel mutation (p.E108D). The prospective clinical data were collected for the proband patient and his family members. T...

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 hom...