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A case report highlights TRPV6 mutations causing prenatal rickets in newborns, suggesting effective management strategies.
TRPV6 mutations should be considered a rare cause of neonatal prenatal rickets and secondary hyperparathyroidism, even in the presence of normocalcaemic hyperparathyroidism. Prognosis is excellent with early mineral and vitamin D supplementation. Multidisciplinary care is essential for diagnosis, management and follow-up. Maternal vitamin D status may modulate disease severity, suggesting that prenatal supplementation could be beneficial.
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Yu et al. (2026) studied this question.
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