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
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Abstract

Nephrogenic diabetes insipidus (NDI) is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP)/antidiuretic hormone (ADH). We present the case of a 7-year-old boy with a history of excretion of large amounts of dilute urine and polydipsia since infancy. The boy had several vomiting episodes with mild dehydration during the first 3 years of life. There was no evidence of headaches, dizziness or visual problems. He drinks between 2 and 3 L/day and has 24-hour diuresis of 2 liters, now. He has prepubertal appearance with appropriate weight [+0.85 standard deviation score (SDS)] and height (+0.15 SDS) for his age. His intelligence was also normal. The water deprivation test showed low urine osmolality after 8 hours of dehydration. After desmopressin administration, urine osmolality remained low. Serum osmolality was in the normal range for sex and age before and after desmopressin administration. This indicated a nephrogenic form of diabetes insipidus. Molecular analyses revealed a P286L [p.Pro(CCC)286Leu(CTC)] mutation in the AVPR2 gene, that was inherited from his mother. This patient is the first case with genetically confirmed X-linked inherited form of NDI in the Republic of Macedonia. Molecular analysis confirmed the clinical diagnosis and enabled genetic advice for this family.



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