Three cases of hereditary hypomagnesemia with secondary hypocalcemia caused by novel TRPM6 gene mutations and a literature review.
J Pediatr Endocrinol MetabJun 23, 2026 (epub)
Mengjie Yang, Zhichao Zheng, Xiaoou Shan et al.
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Case in brief
Three Chinese children presented with afebrile convulsions, with one also experiencing gross hematuria. Genetic testing revealed four novel mutations in the TRPM6 gene. Treatment led to an increase in serum magnesium levels from 0.24 ± 0.13 mmol/L to 0.57 ± 0.10 mmol/L. The primary clinical manifestation was convulsions, observed in 90% of the cases.
Diagnostic / clinical pearl
In cases of unexplained recurrent convulsions or tetany, consider hereditary hypomagnesemia with secondary hypocalcemia, especially if the fractional excretion of magnesium is ≤2%.