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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CONCLUSIONS
We report the case of a 7-year-old male patient,
the first case with a genetically confirmed X-linked
form of NDI in the Republic of Macedonia. Molecular
analysis confirmed the clinical diagnosis and enabled genetic advice for this family. Female relatives in a
family with an NDI patient should be recommended
for molecular carrier testing and should be aware of
the possibility of bearing a male offspring with NDI.
This implicates the importance of prenatal diagnosis
and its impact on the quality of life in children.
Declaration of Interest. This study was supported
by a grant from the Korean Health Technology
R&D Project, Ministry of Health and Welfare,
Republic of Korea (A120017). The authors report no
conflicts of interest. The authors alone are responsible
for the content and writing of this article.
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