AI Article Synopsis
- MYH9 related diseases, caused by mutations in the MYH9 gene, follow an autosomal dominant inheritance pattern and are classified as rare genetic disorders.
- The MYH9 gene is crucial for producing a type of nonmuscle myosin that is important in various tissues, particularly in kidney cells and those involved in blood filtration.
- A case study of a 27-year-old woman illustrates the complexities of diagnosing MYH9 related diseases, as she was initially misdiagnosed, emphasizing the importance of genetic testing in identifying rare conditions and their associated symptoms, such as kidney issues and hearing loss.
Article Abstract
MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare group of genetic entities. Its inheritance follows an autosomal dominant pattern. The MYH9 gene, encodes the nonmuscle myosin heavy chain IIA, expressed in different tissues and especially in podocytes and mesangial cells. The disorder is characterized by the presence of macrothrombocytopenia, leukocyte inclusions and a variable risk of developing renal failure, hearing loss and early-onset cataracts. We describe the case of a 27-year-old Caucasian woman, diagnosed initially with idiopathic thrombocytopenic purpura. After a detailed family history and the appearance of renal involvement and hearing loss, genetic testing allowed to make the diagnosis of nephropathy associated with MYH9 mutation. This case is an example of the delayed diagnosis of uncommon diseases and highlights the usefulness genetic testing. A review of the disease is provided.
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| http://dx.doi.org/10.1016/j.nefro.2018.08.008 | DOI Listing |
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