ea0037ep1329 | Clinical Cases–Thyroid/Other | ECE2015
Erdem Beril
, Schulz Angela
, Saglar Emel
, Schoneberg Torsten
, Deniz Ferhat
, Mergen Hatice
Diabetes insipidus is a disorder characterised by severe liquid-imbalance because of the inability to concentrate urine. Inactivating mutations in either arginine vasopressin receptor type 2 (AVPR2) or aquaporin 2 (AQP2) gene can cause congenital Nephrogenic diabetes insipidus (NDI). AVPR2 is a G protein-coupled receptor (GPCR) and is mainly expressed at the basolateral site of the kidneys collecting duct principal cells. Activation of this receptor by vasopressin is responsib...