Rare Pediatrics News
5 Facts you should know about
Gitelman syndrome
1
Gitelman syndrome is a rare, inherited renal tubular disorder characterized by electrolyte imbalances, primarily affecting the kidneys' ability to reabsorb sodium, chloride, potassium, and magnesium
2
It is caused by mutations in the SLC12A3 gene, leading to reduced function of the thiazide-sensitive sodium-chloride cotransporter (NCCT) in the kidney's distal tubules
3
Individuals with Gitelman syndrome often present with symptoms such as muscle weakness, fatigue, salt cravings, tetany (muscle cramps), and in severe cases, electrolyte imbalances may lead to abnormal heart rhythms or seizures
4
Diagnosis involves blood tests showing low levels of potassium, magnesium, and chloride, along with high levels of renin and aldosterone, and sometimes genetic testing to confirm mutations in the SLC12A3 gene
5
Treatment typically involves oral supplementation of electrolytes (potassium, magnesium) and salt to manage the symptoms and prevent complications, often with medications that inhibit the excretion of potassium
Rare Pediatrics News
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