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Novel Identification of a Sporadic MYH9-Related Disease with Uremia in Taiwanese: A Case Report and Literature Review
摘要
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder characterized with the presence of giant platelets, thrombocytopenia, and Döhle-like inclusion bodies. Renal involvement was reported in approximately 30% of patients with MYH9-RD. The initial manifestation is usually proteinuria, which progresses to chronic kidney disease (CKD) and end-stage renal disease (ESRD) later in adulthood. We report a sporadic case of a 19-year-old girl who presented with macrothrombocytopenia, severe anemia, deafness, and proteinuric nephropathy with rapid progression to ESRD. Then, she received continuous ambulatory peritoneal dialysis (CAPD) so that anemia was well controlled by erythropoiesis-stimulating agent (ESA) therapy. Even without an apparent family history, MYH9-RD could be an important cause of renal failure in patients who present with thrombocytopenia. To the best of our knowledge, this is the first case reported on MYH9-RD caused by an R702C mutation in Taiwanese and Chinese population.
延伸閱讀
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