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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Abstract
Gitelman syndrome (GS) is a rare renal tubulopathy
with an autosomal recessive mode of inheritance, caused
by biallelic pathogenic variants in the SLC12A3 gene.
The clinical features may overlap with other disorders,
such as Bartter syndrome type 3, HNF1B nephropathy or
even mitochondrial disease, but can be distinguished by
molecular genetic analysis.
Here we report on two preschool brothers, who presented
with a several months’ history of episodes of carpopedal
spasms and muscle aches.
The biochemical analyses revealed hypokalemia and
hypomagnesemia without metabolic alkalosis. A 24-h
urine sample demonstrated hypocalciuria.
The molecular analyses showed that both patients
were heterozygous for 3 (likely) pathogenic variants
in SLC12A3: c.1805_1806del; p. (Tyr602Cysfs*31),
c.2660+1G>A and c.2944 A>T; p. (Ile982Phe). Analysis
of the parents showed that the mother was heterozygous
for the c.2944 A>T p.(Ile982Phe) variant, and the
father carried the other 2 variants (c.1805_1806del and
c.2660+1G>A).
Herein we present two children in a family from N.
Macedonia with clinical manifestations and electrolyte imbalances
suggestive of GS. The results of the tubulopathy
next generation sequencing (NGS) panel confirmed the
diagnosis. The boys are treated with a high salt diet and
oral potassium and magnesium supplements.
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