Hypomagnesaemia with secondary hypocalcaemia due to TRPM6 gene mutation

Joshi, Rajesh; Phatarpekar, Ankur

doi:10.4038/sljch.v41i4.4989

Cited by 4 publications

(2 citation statements)

References 6 publications

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“…This gene is expressed in the intestine and the apical membrane of the distal convoluted tubules (DCT) of the kidney. Subsequently there is a defect in intestinal absorption and impaired renal reabsorption of Mg2+ leading to serum hypomagnesaemia [4]. In the past FHSH was thought to be an X linked recessive disorder until 1997 when the autosomal recessive inheritance was proven [5,6].…”

Section: Discussionmentioning

confidence: 99%

TRPM6 Gene Mutation Responsible for Familial Hypomagnesemia with Secondary Hypocalcemia

Hussein¹,

Saleh²,

Doory³

et al. 2019

Arch Clin Med Case Rep

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This case report describes a five years old Emirati boy, who had a history of convulsions (twice) at the age of two weeks, associated with reduced activity and excessive startling response. His investigation showed hypomagnesemia with normal calcium level, normal parathyroid hormone and no urinary loss of Magnesium (Mg). Mutations in the TRPM6 gene, a member of the transient receptor potential family of cation channels, was identified by the genetic study. This gene, located on chromosome 9, is expressed in the intestinal epithelium and renal cells. TRPM6 gene plays a crucial for magnesium homeostasis which is subsequently linked to the rare metabolic disorder; Familial hypomagnesemia with secondary hypocalcemia.

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Section: Discussionmentioning

confidence: 99%

TRPM6 Gene Mutation Responsible for Familial Hypomagnesemia with Secondary Hypocalcemia

Hussein¹,

Saleh²,

Doory³

et al. 2019

Arch Clin Med Case Rep

View full text Add to dashboard Cite

show abstract

“…Familial hypomagnesemia with secondary hypocalcemia, a rare autosomal recessive disorder, is associated with reduced intestinal magnesium absorption and enhanced renal wasting followed by hypocalcemia due to secondary parathyroid insufficiency. [ 1 ] It usually presents with recurrent seizures secondary to hypocalcemia, lethargy, and tetany, which are symptoms of hypocalcemia. Familial hypomagnesemia with secondary hypocalcemia…”

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confidence: 99%