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Article

Three cases of hereditary hypomagnesemia with secondary hypocalcemia caused by novel TRPM6 gene mutations and a literature review.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Sept 2026

Yang Mengjie, Zheng Zhichao, Shan Xiaoou, Luo Yue

Abstract excerpt

OBJECTIVES: Hereditary hypomagnesemia with secondary hypocalcemia (HSH), also referred to intestinal hypomagnesemia 1 (HOMG1), is an extremely rare autosomal recessive genetic disorder with an unclear incidence rate. To summarize the clinical phenotypes and genetic characteristics of Chinese patients with HSH caused by TRPM6 gene mutations. CASE PRESENTATION: Three Chinese children in our center presented with...

Read the complete abstract on PubMed

Topics

Humans
Female
Male
Hypocalcemia
TRPM Cation Channels
Mutation
Infant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child, Preschool

Hypercalciuria

Prognosis

Magnesium Deficiency

Renal Tubular Transport, Inborn Errors

Source

Identifiers

PMID: 42324811
DOI: 10.1515/jpem-2026-0185

Genes

TRPM6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Three cases of hereditary hypomagnesemia with secondary hypocalcemia caused by novel TRPM6 gene mutations and a literature review.PMID 42324811Read ↗

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Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature ReviewSemantic proximity Read ↗

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

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Familial hypomagnesaemia with secondary hypocalcaemia.Semantic proximity Read ↗

Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.Semantic proximity Read ↗

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