JOURNAL OF RARE DISEASES 2024;3(1):131-135

doi:10.12376/j.issn.2097-0501.2024.01.018

A Case Report of MYH9 Gene Mutation Associated with Glomerular Minor Lesion

Yuanmeng JIN 1 ; Chunli ZHANG 1 ; Jing XU 1 ; Jingyuan XIE 1

Affiliations

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Keywords

MYH9 gene; non-muscle myosin heavy chain ⅡA; glomerular minor lesion

Country

China

Language

Chinese

Abstract

Non-muscle myosin heavy chain 9-related disease (MYH9-RD) is an autosomal dominant disease caused by the mutations of the MYH9 gene encoding the non-muscle mysoin heavy chain ⅡA and leads to abnormal accumulation of myosin in cells. These further causes functional disorders of the blood, eye, ear, kidney, and liver systems. MYH9-RD displays heterogeneous kidney involvement and outcomes, but doctors still lack understandings of the mechanism and treatment strategies, owing to difficulty of conducting renal biopsies. Here, we report a case of MYH9-RD with tail fragments heterozygous mutation, which renal pathology is presented as glomerular minor lesion. Moreover, we reviewed related relevant to strengthen clinical diagnosis and understanding of MYH9-RD.