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Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease

BACKGROUND: RMND1 is a nuclear gene needed for proper function of mitochondria. A pathogenic gene will cause multiple oxidative phosphorylation defects. A renal phenotype consisting of hyponatremia, hyperkalemia, and acidosis is frequently reported, previously considered to be due to aldosterone ins...

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Autores principales: Kömhoff, Martin, Gracchi, Valentina, Dijkman, Henry, Beck, Bodo B., Monnens, Leo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10673983/
https://www.ncbi.nlm.nih.gov/pubmed/37450011
http://dx.doi.org/10.1007/s00467-023-06079-6
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author Kömhoff, Martin
Gracchi, Valentina
Dijkman, Henry
Beck, Bodo B.
Monnens, Leo
author_facet Kömhoff, Martin
Gracchi, Valentina
Dijkman, Henry
Beck, Bodo B.
Monnens, Leo
author_sort Kömhoff, Martin
collection PubMed
description BACKGROUND: RMND1 is a nuclear gene needed for proper function of mitochondria. A pathogenic gene will cause multiple oxidative phosphorylation defects. A renal phenotype consisting of hyponatremia, hyperkalemia, and acidosis is frequently reported, previously considered to be due to aldosterone insensitivity. METHODS: Clinical features and pathophysiology of three patients will be reported. DNA of these patients was subjected to exome screening. RESULTS: In the first family, one pathogenic heterozygous and one highly probable heterozygous mutation were detected. In the second family, a homozygous pathogenic mutation was present. The electrolyte disbalance was not due to aldosterone insensitivity but to low plasma aldosterone concentration, a consequence of low plasma renin activity. This disbalance can be treated. In all three patients, the kidney function declined. In the first family, both children suffered from an unexplained arterial thrombosis with dire consequences. CONCLUSIONS: Hyporeninemic hypoaldosteronism is the mechanism causing the electrolyte disbalance reported in patients with RMND1 mutations, and can be treated.
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spelling pubmed-106739832023-07-14 Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease Kömhoff, Martin Gracchi, Valentina Dijkman, Henry Beck, Bodo B. Monnens, Leo Pediatr Nephrol Original Article BACKGROUND: RMND1 is a nuclear gene needed for proper function of mitochondria. A pathogenic gene will cause multiple oxidative phosphorylation defects. A renal phenotype consisting of hyponatremia, hyperkalemia, and acidosis is frequently reported, previously considered to be due to aldosterone insensitivity. METHODS: Clinical features and pathophysiology of three patients will be reported. DNA of these patients was subjected to exome screening. RESULTS: In the first family, one pathogenic heterozygous and one highly probable heterozygous mutation were detected. In the second family, a homozygous pathogenic mutation was present. The electrolyte disbalance was not due to aldosterone insensitivity but to low plasma aldosterone concentration, a consequence of low plasma renin activity. This disbalance can be treated. In all three patients, the kidney function declined. In the first family, both children suffered from an unexplained arterial thrombosis with dire consequences. CONCLUSIONS: Hyporeninemic hypoaldosteronism is the mechanism causing the electrolyte disbalance reported in patients with RMND1 mutations, and can be treated. Springer Berlin Heidelberg 2023-07-14 2024 /pmc/articles/PMC10673983/ /pubmed/37450011 http://dx.doi.org/10.1007/s00467-023-06079-6 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
Kömhoff, Martin
Gracchi, Valentina
Dijkman, Henry
Beck, Bodo B.
Monnens, Leo
Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease
title Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease
title_full Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease
title_fullStr Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease
title_full_unstemmed Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease
title_short Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease
title_sort hyporeninemic hypoaldosteronism in rmnd1-related mitochondrial disease
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10673983/
https://www.ncbi.nlm.nih.gov/pubmed/37450011
http://dx.doi.org/10.1007/s00467-023-06079-6
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