This protocol addresses patients with 22q11.2 deletion syndrome who present with hypocalcemia in the context of relative or absolute hypoparathyroidism. This combination requires targeted evaluation and ongoing management across all ages.
Hypocalcemia associated with relative or absolute hypoparathyroidism is an issue for most patients with 22q11.2 deletion syndrome and may arise or recur at any age — even after apparent resolution in childhood. Active monitoring is required throughout the lifespan.
The cornerstone of management involves vitamin D supplementation, with additional measures considered in certain clinical presentations. The full structured regimen defines the complete approach, criteria for individualisation, and when additional supplementation is warranted.
Hypocalcemia associated with relative or absolute hypoparathyroidism is an issue for most patients and may arise or recur at any age and despite apparent resolution in childhood.
Daily vitamin D supplementation is recommended for all adults, sometimes with calcium supplementation.
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