Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report
Jazyk angličtina Země Česko Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články
PubMed
34012148
DOI
10.5507/bp.2021.027
Knihovny.cz E-zdroje
- Klíčová slova
- hypocalcemia, hypomagnesemia, infantile seizures, transient receptor potential melastatin 6,
- MeSH
- hořčík MeSH
- hyperkalciurie MeSH
- hypokalcemie * genetika MeSH
- kationtové kanály TRPM * genetika MeSH
- lidé MeSH
- mutace MeSH
- nedostatek hořčíku * vrozené genetika MeSH
- nefrokalcinóza MeSH
- vrozené poruchy tubulárního transportu MeSH
- záchvaty genetika MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- hořčík MeSH
- kationtové kanály TRPM * MeSH
- TRPM6 protein, human MeSH Prohlížeč
BACKGROUND: Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation are generalized seizures, tetany, and/or muscle spasms. CASE REPORT: We present a 5 w/o female manifesting tonic-clonic seizures. Laboratory tests detected severe hypomagnesemia and hypocalcemia. The molecular genetic analysis revealed two novel mutations within the TRPM6 gene c.3308dupC (p.Pro1104Thrfs*28) (p.P1104Tfs*28) and c.3958C>T (p.Gln1302*) (p.Q1302*) and the patient was successfully treated with Mg supplementation. CONCLUSION: Ion disbalance should be taken into account in the differential diagnosis of infantile seizures. Accurate diagnosis of HSH together with appropriate treatment are crucial to prevent irreversible neurological outcomes.
3rd Department of Internal Medicine 1st Faculty of Medicine Charles University Prague Czech Republic
Central European Institute of Technology Brno Czech Republic
Department of Biology Faculty of Medicine Masaryk University Brno Czech Republic
Department of Pediatric Neurology University Hospital Brno Brno Czech Republic
Department of Pediatrics University Hospital Brno Brno Czech Republic
Experimental Medicine Centre Institute for Clinical and Experimental Medicine Prague Czech Republic
Citace poskytuje Crossref.org
