Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation
Authors' conclusion
HOMG1 due to TRPM6 mutation is a rare condition. We are reporting 11 cases of TRPM6 mutation due to 9 different variants (7 novel). Persistent severe secondary hypocalcemia is a prominent clinical feature of TRPM6 mutation, which can be life-threatening if not treated promptly.
Study context
- Population
- Genetically confirmed primary hypomagnesemia due to homozygous TRPM6 mutation, Department of Pediatric Endocrinology and Diabetes, The Children's Hospital, Lahore, over 2 years10 families
- Participants
- 11 participants
- Outcome
- Clinical spectrum of hypomagnesemia with secondary hypocalcemia due to TRPM6 mutation
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Clinical spectrum
- Male
- 7
- Novel variants
- 7
- Cases with history of sibling death due to hypocalcemia seizures (5 families)
- 6
- First symptoms irritability and excessive crying, mean age
- 20 days
- Intractable seizures, mean age
- 2.07 months
- Presented under 6 months of age
- 8
- Presented between 6 and 12 months
- 2
- Presented at 3 years of age
- 1
Observational data: associations, not effects.
Further findings
Outcome on daily oral Mg · currently
- All cases maintaining bone profile on oral Mg and seizure free
Original publication
Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation. Horm Res Paediatr. Published 25 August 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →