A Nationwide Survey of MYH9-related Disease in Japan.
Clinical and experimental nephrology(2023)
摘要
MYH9-related disease (MYH9-RD) is characterized by congenital macrothrombocytopenia, Döhle body-like granulocyte inclusions, and nephropathy, which may progress to end-stage kidney disease (ESKD). However, information on the effects of renin-angiotensin system (RAS) inhibitors on kidney survival is currently lacking and the outcomes of kidney replacement therapy (KRT) in MYH9-RD are largely unknown. We conducted a cross-sectional nationwide survey by sending questionnaires to 145 institutions in Japan and analyzed data for 49 patients. The median patient age was 27 years. Genetic analysis was performed in 37 (76
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关键词
MYH9-related disease,Epstein syndrome,Renin-angiotensin system inhibitors,Kidney replacement therapy,Bleeding complications
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