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MYH9-related disease with a normal platelet count.
Nakatani, Ryo; Miura, Kenichiro; Shirai, Yoko; Taneda, Sekiko; Horinouchi, Tomoko; Nozu, Kandai; Honda, Kazuho; Yamaguchi, Yutaka; Kunishima, Shinji; Hattori, Motoshi.
Afiliación
  • 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.
CEN Case Rep ; 2024 Aug 03.
Article en En | MEDLINE | ID: mdl-39096414
ABSTRACT
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: CEN Case Rep Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Japón
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: CEN Case Rep Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Japón