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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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.

Ejemplares similares