Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 165(4): 454-457, 2021 Nov.
Article
en En
| MEDLINE
| ID: mdl-34012148
ABSTRACT
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.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Canales Catiónicos TRPM
/
Hipocalcemia
/
Deficiencia de Magnesio
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
Año:
2021
Tipo del documento:
Article
País de afiliación:
República Checa