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Article

Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation.

BMJ case reports - 26 Feb 2024

Khadse Savita, Takalikar Vrushali Satish, Ghildiyal Radha, Shah Nikhil

Abstract excerpt

Magnesium is essential for the functioning and release of parathyroid hormone. Therefore, its deficiency can present as functional hypoparathyroidism. This case report describes a rare inherited disorder called congenital hypomagnesaemia with secondary hypocalcaemia due to TRPM6 gene mutation. This disease clinically and biochemically mimics hypoparathyroidism. However, unlike hypoparathyroidism, it can be...

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Identifiers

PMID: 38413141
DOI: 10.1136/bcr-2023-257505
PMCID: PMC10900374

Genes

TRPM6

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