Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease

Mutation of 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. We encountered a 17-year-o...

Full description

Saved in:
Bibliographic Details
Published in:Frontiers in medicine 2022-01, Vol.8, p.807017
Main Authors: Wang, Qiang, Wang, Qi, Gao, Yanxia, Tang, Chenquan, Gao, Zhaoli, Hu, Zhao
Format: Article
Language:English
Subjects:
cobalamin C disease
hydroxylcobalamin
Medicine
methylmalonic academia
MMACHC
secondary membranous nephropathy
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Mutation of 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. We encountered a 17-year-old female patient with a trans-compound mutation of 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. Membranous nephropathy secondary to cobalamin C disease is reversible with timely intervention.
ISSN:2296-858X
2296-858X
DOI:10.3389/fmed.2021.807017