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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