MYH9-related disease with a normal platelet count.

Autor: Nakatani R; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan., Miura K; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan., Shirai Y; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan., Taneda S; Department of Surgical Pathology, Tokyo Women's Medical University, Tokyo, Japan., Horinouchi T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Honda K; Department of Anatomy, Showa University School of Medicine, Tokyo, Japan., Yamaguchi Y; Yamaguchi's Pathology Laboratory, Chiba, Japan., Kunishima S; Department of Medical Technology, School of Health Sciences, Gifu University of Medical Science, Gifu, Japan., Hattori M; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan. hattori.motoshi@twmu.ac.jp.
Jazyk: angličtina
Zdroj: CEN case reports [CEN Case Rep] 2024 Aug 03. Date of Electronic Publication: 2024 Aug 03.
DOI: 10.1007/s13730-024-00922-x
Abstrakt: MYH9-related disease (MYH9-RD) is characterized by congenital macrothrombocytopenia, progressive kidney failure, and sensorineural hearing loss. We describe a patient with MYH9-RD and a normal platelet count. A 13-year-old boy with a normal platelet count presented with proteinuria and hematuria and underwent a kidney biopsy. Light microscopy showed mild mesangial matrix expansion. Electron microscopy showed thinning of the glomerular basement membrane and splitting of the lamina densa. A tentative diagnosis of Alport syndrome was made. Unexpectedly, genetic analysis revealed a de novo MYH9 gene variant (p.Gln1068_Leu1074dup). A peripheral blood smear examination showed giant platelets and leukocyte inclusion bodies, confirming a diagnosis of MYH9-RD. In summary, we described a patient with MYH9-RD without thrombocytopenia who showed glomerular basement membrane abnormalities similar to Alport syndrome. Peripheral blood smear examinations may be helpful for an appropriate diagnosis of MYH9-RD, even in patients with proteinuria and a normal platelet count.
(© 2024. The Author(s), under exclusive licence to Japanese Society of Nephrology.)
Databáze: MEDLINE
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