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Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease.

ABSTRACT:

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.

SUBMITTER: Wang Q

PROVIDER: S-EPMC8814342 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease.

Wang Qiang Q Wang Qi Q Gao Yanxia Y Tang Chenquan C Gao Zhaoli Z Hu Zhao Z

Frontiers in medicine 20220121

<h4>Background</h4>Mutation of <i>MMACHC</i> 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.<h4>Case presentation</h4>We encountered a 17-year-old female patient with a trans-compound mutation of <i>MMACHC</i> who presented with membranous nephropathy, MMA, homocysteinemia, and hyperur ...[more]

PMID: 35127762

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