Mitochondrial DNA depletion syndrome 8A complicated with nephrotic syndrome caused by RRM2B gene variation: a case report and literature review
10.3760/cma.j.cn441217-20240109-00112
- VernacularTitle:RRM2B基因变异致线粒体DNA耗竭综合征8A型合并肾病综合征1例并文献复习
- Author:
Danni YANG
1
;
Lu CAO
;
Huating ZHANG
;
Jianjiang ZHANG
Author Information
1. 郑州大学第一附属医院儿科 河南省儿童肾脏病临床诊疗中心，郑州 450052
- Keywords:
Child;
Gene mutation;
Nephrotic syndrome;
RRM2B gene;
Mitochondrial DNA depletion syndrome 8A
- From:
Chinese Journal of Nephrology
2024;40(10):818-822
- CountryChina
- Language:Chinese
-
Abstract:
Mitochondrial DNA depletion syndrome (MDS) is a group of genetic diseases in which the number of mitochondrial DNA copies is severely decreased due to mutations in nuclear genes and affects energy metabolism in several tissues and organs. Renal involvement of MDS is often manifested as proximal renal tubular disease, while MDS combined with nephrotic syndrome is rare. This paper report a case of child with mitochondrial DNA depletion syndrome 8A (MTDPS8A) complicated with nephrotic syndrome due to compound heterozygous variants of RRM2B gene. The child mainly presented with epilepsy, auditory dysfunction, and nephrotic syndrome as clinical manifestations. The histopathological findings indicated focal segmental glomerulosclerosis (collapsing variant). The child was treated with glucocorticoid combined with immunosuppressant, energy support and symptomatic treatment, while the effect was not significant. He continued to experience progressive deterioration of renal function during the six-month follow-up period and had a long-term peritoneal dialysis for maintenance therapy.
