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Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder affecting <1/1,000,000 people. It is caused by mutations in the CLDN16 (FHHNC Type 1) or CLDN19 (FHHNC Type 2) genes, which are located on Chromosomes 3q27 and 1p34.2, respectively. The...

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Autores principales: Bennati, Giada, Cirino, Mario, Benericetti, Giulia, Maximova, Natalia, Zanier, Monica, Pigato, Federico, Parzianello, Anna, Maestro, Alessandra, Barbi, Egidio, Zanon, Davide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10305453/
https://www.ncbi.nlm.nih.gov/pubmed/37375733
http://dx.doi.org/10.3390/ph16060785
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author Bennati, Giada
Cirino, Mario
Benericetti, Giulia
Maximova, Natalia
Zanier, Monica
Pigato, Federico
Parzianello, Anna
Maestro, Alessandra
Barbi, Egidio
Zanon, Davide
author_facet Bennati, Giada
Cirino, Mario
Benericetti, Giulia
Maximova, Natalia
Zanier, Monica
Pigato, Federico
Parzianello, Anna
Maestro, Alessandra
Barbi, Egidio
Zanon, Davide
author_sort Bennati, Giada
collection PubMed
description Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder affecting <1/1,000,000 people. It is caused by mutations in the CLDN16 (FHHNC Type 1) or CLDN19 (FHHNC Type 2) genes, which are located on Chromosomes 3q27 and 1p34.2, respectively. There are no drug therapies for this condition. Although magnesium salts represent an important class of compounds and exhibit various therapeutic actions as a supplement for magnesium deficiency in FHHNC, various formulations on the market have different bioavailability. We report the case of a patient with FHNNC first treated, in our Pediatric Institute, with high doses of magnesium pidolate and magnesium and potassium citrate. The patient began to neglect this therapy after experiencing frequent daily episodes of diarrhoea. Our pharmacy received a request for an alternative magnesium supplement that would better comply by ensuring a good magnesium intake which will result in adequate blood magnesium levels. In response, we developed a galenic compound in the form of effervescent magnesium. Here, we report on the promise of this formulation not only for better compliance than pidolate, but also for better bioavailability.
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spelling pubmed-103054532023-06-29 Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report Bennati, Giada Cirino, Mario Benericetti, Giulia Maximova, Natalia Zanier, Monica Pigato, Federico Parzianello, Anna Maestro, Alessandra Barbi, Egidio Zanon, Davide Pharmaceuticals (Basel) Case Report Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder affecting <1/1,000,000 people. It is caused by mutations in the CLDN16 (FHHNC Type 1) or CLDN19 (FHHNC Type 2) genes, which are located on Chromosomes 3q27 and 1p34.2, respectively. There are no drug therapies for this condition. Although magnesium salts represent an important class of compounds and exhibit various therapeutic actions as a supplement for magnesium deficiency in FHHNC, various formulations on the market have different bioavailability. We report the case of a patient with FHNNC first treated, in our Pediatric Institute, with high doses of magnesium pidolate and magnesium and potassium citrate. The patient began to neglect this therapy after experiencing frequent daily episodes of diarrhoea. Our pharmacy received a request for an alternative magnesium supplement that would better comply by ensuring a good magnesium intake which will result in adequate blood magnesium levels. In response, we developed a galenic compound in the form of effervescent magnesium. Here, we report on the promise of this formulation not only for better compliance than pidolate, but also for better bioavailability. MDPI 2023-05-24 /pmc/articles/PMC10305453/ /pubmed/37375733 http://dx.doi.org/10.3390/ph16060785 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Bennati, Giada
Cirino, Mario
Benericetti, Giulia
Maximova, Natalia
Zanier, Monica
Pigato, Federico
Parzianello, Anna
Maestro, Alessandra
Barbi, Egidio
Zanon, Davide
Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report
title Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report
title_full Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report
title_fullStr Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report
title_full_unstemmed Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report
title_short Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report
title_sort compounded effervescent magnesium for familial hypomagnesemia: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10305453/
https://www.ncbi.nlm.nih.gov/pubmed/37375733
http://dx.doi.org/10.3390/ph16060785
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