A Case Report of MYH9 Gene Mutation Associated with Glomerular Minor Lesion / 罕见病研究
JOURNAL OF RARE DISEASES
;
(4): 131-135, 2024.
Artigo
em Inglês
| WPRIM
| ID: wpr-1006910
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Inglês
Revista:
JOURNAL OF RARE DISEASES
Ano de publicação:
2024
Tipo de documento:
Artigo
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