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A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia

SUMMARY: Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6)...

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Autores principales: Lomelino-Pinheiro, Sara, Margarida, Bastos, Lages, Adriana de Sousa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7219130/
https://www.ncbi.nlm.nih.gov/pubmed/32369769
http://dx.doi.org/10.1530/EDM-20-0005
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author Lomelino-Pinheiro, Sara
Margarida, Bastos
Lages, Adriana de Sousa
author_facet Lomelino-Pinheiro, Sara
Margarida, Bastos
Lages, Adriana de Sousa
author_sort Lomelino-Pinheiro, Sara
collection PubMed
description SUMMARY: Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usually presents with neurological symptoms in the first months of life. We report a case of a neonate presenting with recurrent seizures and severe hypomagnesemia. The genetic testing revealed a novel variant in the TRPM6 gene. The patient has been treated with high-dose magnesium supplementation, remaining asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to prevent irreversible neurological damage. LEARNING POINTS: Loss-of-function mutations of TRPM6 are associated with FHSH. FHSH should be considered in any child with refractory hypocalcemic seizures, especially in cases with serum magnesium levels as low as 0.2 mM. Normocalcemia and relief of clinical symptoms can be assured by administration of high doses of magnesium. Untreated, the disorder may be fatal or may result in irreversible neurological damage.
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spelling pubmed-72191302020-05-18 A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia Lomelino-Pinheiro, Sara Margarida, Bastos Lages, Adriana de Sousa Endocrinol Diabetes Metab Case Rep New Disease or Syndrome: Presentations/Diagnosis/Management SUMMARY: Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usually presents with neurological symptoms in the first months of life. We report a case of a neonate presenting with recurrent seizures and severe hypomagnesemia. The genetic testing revealed a novel variant in the TRPM6 gene. The patient has been treated with high-dose magnesium supplementation, remaining asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to prevent irreversible neurological damage. LEARNING POINTS: Loss-of-function mutations of TRPM6 are associated with FHSH. FHSH should be considered in any child with refractory hypocalcemic seizures, especially in cases with serum magnesium levels as low as 0.2 mM. Normocalcemia and relief of clinical symptoms can be assured by administration of high doses of magnesium. Untreated, the disorder may be fatal or may result in irreversible neurological damage. Bioscientifica Ltd 2020-05-05 /pmc/articles/PMC7219130/ /pubmed/32369769 http://dx.doi.org/10.1530/EDM-20-0005 Text en © 2020 The authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. (http://creativecommons.org/licenses/by-nc-nd/4.0/) .
spellingShingle New Disease or Syndrome: Presentations/Diagnosis/Management
Lomelino-Pinheiro, Sara
Margarida, Bastos
Lages, Adriana de Sousa
A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia
title A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia
title_full A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia
title_fullStr A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia
title_full_unstemmed A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia
title_short A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia
title_sort novel trpm6 variant (c.3179t>a) causing familial hypomagnesemia with secondary hypocalcemia
topic New Disease or Syndrome: Presentations/Diagnosis/Management
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7219130/
https://www.ncbi.nlm.nih.gov/pubmed/32369769
http://dx.doi.org/10.1530/EDM-20-0005
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