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

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  • معلومة اضافية
    • بيانات النشر:
      Editorial Office of Journal of Rare Diseases, 2024.
    • الموضوع:
      2024
    • Collection:
      LCC:Medicine
    • نبذة مختصرة :
      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.
    • File Description:
      electronic resource
    • ISSN:
      2097-0501
    • Relation:
      https://doaj.org/toc/2097-0501
    • الرقم المعرف:
      10.12376/j.issn.2097-0501.2024.01.018
    • الرقم المعرف:
      edsdoj.b90f7630104d42bf97bab02dd1eb9acb