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Article

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

Journal of clinical research in pediatric endocrinology - 23 Aug 2021

Bayramoğlu Elvan, Keskin Melikşah, Aycan Zehra, Savaş-Erdeve Şenay, Çetinkaya Semra

Abstract excerpt

Objective: Familial hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disease caused by a mutation in the transient receptor potential melastatin 6 (TRPM6) gene and is characterized by selective magnesium malabsorption. Affected cases are usually diagnosed during infancy and usually present with seizures due to hypocalcemia and hypomagnesemia. Irreversible neurological deficits and...

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Identifiers

PMID: 33565749
DOI: 10.4274/jcrpe.galenos.2021.2020.0192
PMCID: PMC8388043

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