British journal of haematology · 2024
Diagnostic delay of MYH9-related disorder in Japan.
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Sakamoto Atsushi, Uchiyama Toru, Kaname Tadashi, Iguchi Akihiro, Ohara Osamu, Ishimura Masataka, Onum Masaei, Kunishima Shinji, Ishiguro Akira
Аннотация
MYH9-related disorder (MYH9-RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9-RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and indicative thrombocytopenia in 41 patients with MYH9-RD from the congenital thrombocytopenia registry in Japan. Our cohort comprises 54.8% adults over 18 years at confirmed diagnosis. We found a significant difference (p < 0.0001) between the median age at definitive diagnosis of 25.0 years and for indicative thrombocytopenia it was 9.0 years. Our findings strongly suggest diagnostic delay of MYH9-RD in Japan. Our registry system will continue to contribute to this issue.
Предметные рубрики MeSH
Delayed DiagnosisJapanHearing Loss, SensorineuralThrombocytopeniaMutationMyosin Heavy ChainsDiagnostic ErrorsPurpura, Thrombocytopenic, IdiopathicAge FactorsRegistriesGenetic TestingMean Platelet VolumeHumansMaleFemaleInfant, NewbornInfantChild, PreschoolChildAdolescentYoung AdultAdultMiddle AgedAgedProspective Studies