IllnessGitelman syndrome

NGS +

Sanger

Gitelman syndrome is a kidney disease that causes ionic imbalances including potassium, magnesium and calcium. Symptoms usually appear in late childhood or adolescence, including tetany, muscle weakness/cramps, dizziness, salt cravings, paresthesias, fatigue, low blood pressure and chondrocalcinosis. Gitelman syndrome may also increase the risk of cardiac arrhythmias. The symptoms vary widely, even among affected members of the same family, with most patients showing relatively mild signs. Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. The mutations impair the kidneys' ability to reabsorb salt, resulting in salt loss and affecting the reabsorption of potassium, magnesium, and calcium. The mode of inheritance is autosomal recessive. The extended differential diagnosis includes more than a dozen other genes. Therefore, a negative molecular genetic result of the single gene test by no means excludes the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1338/

• Alias: Familiäre Hypokaliämie-Hypomagnesiämie (SLC12A3)
• Alias: Hypomagnesemia-hypokaliemia, primary renotubular with hypocalciuria (SLC12A3)
• Alias: Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria (SLC12A3)