Balkan Journal of Medical Genetics

X-LINKED RECESSIVE FORM OF NEPHROGENIC DIABETES INSIPIDUS IN A 7-YEAR-OLD BOY
Janchevska A1,*, Tasic V1, Gucev Z1, Krstevska-Konstantinova M1, Cheong HI2,3,4
*Corresponding Author: Dr. Aleksandra Janchevska, Department of endocrinology and genetics, University Children’s Hospital Skopje, Medical Faculty, 1000 Skopje, Republic of Macedonia. Tel: +389-2-3147-474. Fax: +389-2-3129-027. E-mail: dr.sasha1969@yahoo.com
page: 81

INTRODUCTION

an acquired illness in the majority of patients, but very rarely has a hereditary origin. There are two wellknown hereditary forms of NDI, type 1 and type 2. The majority of patients (about 90.0%) have type 1, an X-linked recessive form of NDI caused by mutations in the AVPR2 gene encoding the vasopressin V2 receptor. The patients are predominantly males, but women are healthy or asymptomatic carriers. The remaining 10.0% of patients carry type 2, autosomal NDI. This type is caused by the aquaporin-2 water channel (AQP2) gene mutations [1]. Nephrogenic diabetes insipidus is caused by the inability of renal collecting duct cells to respond to antidiuretic action of arginine vasopressin (AVP). This antidiuretic hormone (ADH) action in kidneys is regulated by three subtypes of G protein coupled AVP receptors. The V1A and V1B type receptors act through Gq proteins and the phospholipase C activation system, but V2 receptor acts through adenyl cyclase and Gs proteins activation system [2- 4]. Renal collecting duct cells cannot reabsorb the water and the kidneys produce a large amount of low concentrated urine as a result of mutations of the AVPR2 gene in type 1 NDI patients.

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