TWO BROTHERS FROM MACEDONIA WITH GITELMAN SYNDROME
Janchevska A, Tasic V, Jordanova O, Gucev Z, Jenkins L, Jovanovska N, Plaseska – Karanfilska D, Ashton E, Bockenhauer D
*Corresponding Author: Ass. Prof. Dr. Aleksandra Janchevska, University Children’s hospital, Skopje, Rep. of N. Macedonia; Email: dr.sasha1969@yahoo.com
page: 69
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CONCLUSIONS
We present the first two siblings, aged 7 years and
7.5 years at the time of the diagnosis, from N. Macedonia
with typical clinical features and electrolyte disturbances
of Gitelman syndrome. The findings of the next generation
sequencing methods were consistent with the clinical
diagnosis of GS. A treatment with a high salt diet and oral
potassium and magnesium supplements allows our patients
a good quality of life and maintains their biochemical
parameters within the normal range.
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