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Two Brothers from Macedonia with Gitelman Syndrome.
A Janchevska1, V Tasic1, O Jordanova1
1University Children's hospital, Skopje, Rep. of N. Macedonia.
Gitelman syndrome, a rare kidney disorder, was diagnosed in two brothers through genetic testing. They presented with muscle spasms and electrolyte imbalances, confirming the diagnosis and guiding treatment with supplements and diet.
Area of Science:
- Genetics
- Nephrology
- Molecular Biology
Background:
- Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy.
- Pathogenic variants in the SLC12A3 gene cause GS.
- Clinical features can mimic other disorders, necessitating molecular genetic analysis for accurate diagnosis.
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