Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease

BACKGROUND: Mutation of MMACHC causes inherited cobalamin C disease with methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be present in patients with this deficiency. However, membranous nephropathy secondary to cobalamin C disease has not been reported to date. CASE PR...

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Autores principales: Wang, Qiang, Wang, Qi, Gao, Yanxia, Tang, Chenquan, Gao, Zhaoli, Hu, Zhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8814342/
https://www.ncbi.nlm.nih.gov/pubmed/35127762
http://dx.doi.org/10.3389/fmed.2021.807017
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author Wang, Qiang
Wang, Qi
Gao, Yanxia
Tang, Chenquan
Gao, Zhaoli
Hu, Zhao
author_facet Wang, Qiang
Wang, Qi
Gao, Yanxia
Tang, Chenquan
Gao, Zhaoli
Hu, Zhao
author_sort Wang, Qiang
collection PubMed
description BACKGROUND: Mutation of MMACHC causes inherited cobalamin C disease with methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be present in patients with this deficiency. However, membranous nephropathy secondary to cobalamin C disease has not been reported to date. CASE PRESENTATION: We encountered a 17-year-old female patient with a trans-compound mutation of MMACHC who presented with membranous nephropathy, MMA, homocysteinemia, and hyperuricemia. The mutations of c.80A>G (chr1:45966084) and c.482G>A (chr1:45974520) (predicting p.Gln27Arg and p.Arg161Gln missense changes at the amino acid level) had been inherited from her father and mother, respectively. Hydroxocobalamin, betaine, and L-carnitine were administered. The patient achieved complete remission of the membranous nephropathy and resolution of the MMA, homocysteinemia, and hyperuricemia. CONCLUSION: Membranous nephropathy secondary to cobalamin C disease is reversible with timely intervention.
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spelling pubmed-88143422022-02-05 Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease Wang, Qiang Wang, Qi Gao, Yanxia Tang, Chenquan Gao, Zhaoli Hu, Zhao Front Med (Lausanne) Medicine BACKGROUND: Mutation of MMACHC causes inherited cobalamin C disease with methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be present in patients with this deficiency. However, membranous nephropathy secondary to cobalamin C disease has not been reported to date. CASE PRESENTATION: We encountered a 17-year-old female patient with a trans-compound mutation of MMACHC who presented with membranous nephropathy, MMA, homocysteinemia, and hyperuricemia. The mutations of c.80A>G (chr1:45966084) and c.482G>A (chr1:45974520) (predicting p.Gln27Arg and p.Arg161Gln missense changes at the amino acid level) had been inherited from her father and mother, respectively. Hydroxocobalamin, betaine, and L-carnitine were administered. The patient achieved complete remission of the membranous nephropathy and resolution of the MMA, homocysteinemia, and hyperuricemia. CONCLUSION: Membranous nephropathy secondary to cobalamin C disease is reversible with timely intervention. Frontiers Media S.A. 2022-01-21 /pmc/articles/PMC8814342/ /pubmed/35127762 http://dx.doi.org/10.3389/fmed.2021.807017 Text en Copyright © 2022 Wang, Wang, Gao, Tang, Gao and Hu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Wang, Qiang
Wang, Qi
Gao, Yanxia
Tang, Chenquan
Gao, Zhaoli
Hu, Zhao
Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease
title Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease
title_full Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease
title_fullStr Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease
title_full_unstemmed Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease
title_short Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease
title_sort case report: membranous nephropathy secondary to cobalamin c disease
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8814342/
https://www.ncbi.nlm.nih.gov/pubmed/35127762
http://dx.doi.org/10.3389/fmed.2021.807017
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