Objective:

To investigate the clinical phenotype, SLC12A3 gene spectrum, and genotype–phenotype correlation in Chinese children with Gitelman syndrome (GS).

Approach:

Key Findings:

• Mean onset age was 7.9 ± 3.4 years.
• Common manifestations included muscle weakness (50%) and limb numbness (40%).
• All patients had hypokalemia; 90% had hypomagnesemia.
• Severe hypokalemia (<2.5 mmol/L) was associated with tetany, dyslipidemia, and increased urinary potassium excretion.
• Genetic testing identified 55 SLC12A3 variants, including 6 novel variants, with high-frequency mutations c.1456G > A (p.D486N) and c.179C > T (p.T60M).

Interpretation:

Pediatric GS shows significant clinical heterogeneity. SLC12A3 variants are diverse, and functional domain classification does not predict phenotype.

Limitations:

• Study limited to a single medical center.
• Retrospective design may introduce bias.

Conclusion:

Pediatric Gitelman syndrome requires careful clinical management.

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