Novel mutations in TRPM6 gene associated with primary
hypomagnesemia with secondary hypocalcemia. Case report

J 2021

Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report

PAPEŽ, Jan; Jiří ŠTARHA; Kateřina SLABÁ; Jaroslav A. HUBACEK; Jakub PECL et. al.

Základní údaje

Originální název

Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report

Autoři

PAPEŽ, Jan; Jiří ŠTARHA; Kateřina SLABÁ; Jaroslav A. HUBACEK; Jakub PECL; Štefánia AULICKÁ; Milan URÍK; Serdar CEYLANER; Petra POKORNÁ ; Ondřej SLABÝ a Petr JABANDŽIEV

Vydání

Biomedical Papers, Olomouc: Palacky University, Olomouc, Palacky University, 2021, 1213-8118

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30209 Paediatrics

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 1.648

Kód RIV

RIV/00216224:14110/21:00123237

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.5507/bp.2021.027

UT WoS

000722224100017

EID Scopus

2-s2.0-85120170642

Klíčová slova anglicky

hypomagnesemia; hypocalcemia; transient receptor potential melastatin 6; infantile seizures

Štítky

14110317, 14110319, 14110320, 14110513, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 28. 2. 2022 12:17, Mgr. Tereza Miškechová

Anotace

V originále

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.

Citovat

PAPEŽ, Jan; Jiří ŠTARHA; Kateřina SLABÁ; Jaroslav A. HUBACEK; Jakub PECL; Štefánia AULICKÁ; Milan URÍK; Serdar CEYLANER; Petra POKORNÁ; Ondřej SLABÝ a Petr JABANDŽIEV. Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report. Biomedical Papers, Olomouc: Palacky University. Olomouc: Palacky University, 2021, roč. 165, č. 4, s. 454-457. ISSN 1213-8118. Dostupné z: https://doi.org/10.5507/bp.2021.027.

@article{1809540,
   author = {Papež, Jan and Štarha, Jiří and Slabá, Kateřina and Hubacek, Jaroslav A. and Pecl, Jakub and Aulická, Štefánia and Urík, Milan and Ceylaner, Serdar and Pokorná, Petra and Slabý, Ondřej and Jabandžiev, Petr},
   article_location = {Olomouc},
   article_number = {4},
   doi = {https://doi.org/10.5507/bp.2021.027},
   keywords = {hypomagnesemia; hypocalcemia; transient receptor potential melastatin 6; infantile seizures},
   language = {eng},
   issn = {1213-8118},
   journal = {Biomedical Papers, Olomouc: Palacky University},
   title = {Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report},
   url = {https://biomed.papers.upol.cz/artkey/bio-202104-0017_novel-mutations-in-trpm6-gene-associated-with-primary-hypomagnesemia-with-secondary-hypocalcemia-case-report.php},
   volume = {165},
   year = {2021}
}

TY  - JOUR
ID  - 1809540
AU  - Papež, Jan - Štarha, Jiří - Slabá, Kateřina - Hubacek, Jaroslav A. - Pecl, Jakub - Aulická, Štefánia - Urík, Milan - Ceylaner, Serdar - Pokorná, Petra - Slabý, Ondřej - Jabandžiev, Petr
PY  - 2021
TI  - Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report
JF  - Biomedical Papers, Olomouc: Palacky University
VL  - 165
IS  - 4
SP  - 454-457
EP  - 454-457
PB  - Palacky University
SN  - 12138118
KW  - hypomagnesemia
KW  - hypocalcemia
KW  - transient receptor potential melastatin 6
KW  - infantile seizures
UR  - https://biomed.papers.upol.cz/artkey/bio-202104-0017_novel-mutations-in-trpm6-gene-associated-with-primary-hypomagnesemia-with-secondary-hypocalcemia-case-report.php
N2  - 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.
ER  -

PAPEŽ, Jan; Jiří ŠTARHA; Kateřina SLABÁ; Jaroslav A. HUBACEK; Jakub PECL; Štefánia AULICKÁ; Milan URÍK; Serdar CEYLANER; Petra POKORNÁ; Ondřej SLABÝ a Petr JABANDŽIEV. Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report. \textit{Biomedical Papers, Olomouc: Palacky University}. Olomouc: Palacky University, 2021, roč.~165, č.~4, s.~454-457. ISSN~1213-8118. Dostupné z: https://doi.org/10.5507/bp.2021.027.

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