MYH9 연관성 질환에서 빈번한 오진과 진단 지연: 유전학적으로 확인된 한국인 환자 대상Frequently Delayed Diagnosis and Misdiagnosis in MYH9-related Disorders: Data from Genetically Confirmed Cases of Korean Patients
- Other Titles
- Frequently Delayed Diagnosis and Misdiagnosis in MYH9-related Disorders: Data from Genetically Confirmed Cases of Korean Patients
- Authors
- 박창훈[박창훈]; 김영은[김영은]; 이기오[이기오]; 김선희[김선희]; 오국환[오국환]; 김인호[김인호]; 오도연[오도연]; 김희진[김희진]
- Issue Date
- 2019
- Publisher
- 대한진단검사의학회
- Keywords
- MYH9; Pathogenic variant; Macrothrombocytopenia; Korean
- Citation
- Laboratory Medicine Online, v.9, no.4, pp.224 - 231
- Indexed
- KCI
- Journal Title
- Laboratory Medicine Online
- Volume
- 9
- Number
- 4
- Start Page
- 224
- End Page
- 231
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/13139
- DOI
- 10.3343/lmo.2019.9.4.224
- ISSN
- 2093-6338
- Abstract
- MYH9-related disorders (MYH9RD) are autosomal-dominant disorders characterized by macrothrombocytopenia with or without leukocyte inclusion bodies or extra-hematological features, such as sensorineural deafness and renal impairment. MYH9RD can be misdiagnosed as an acquired form of thrombocytopenia including immune thrombocytopenic purpura (ITP). This leads to delayed diagnosis or administration of ineffective treatment. In the present study, we investigated the clinical and molecular characteristics of five unrelated Korean patients with MYH9RD and their family members, from four institutions. We reviewed clinical and laboratory data including extra-hematological manifestations. MYH9 pathogenic variants were detected by direct sequencing in all probands and the affected family members (N=10): two probands with c.5521G>A (p.Glu1841Lys) and one proband each with c.99G>T (p.Trp33Cys), c.287C>T (p.Ser96Leu), and c.3493C>T (p.Arg1165Cys). All patients had macrothrombocytopenia. Only the proband with Ser96Leu had extra-hematological manifestations. Past history revealed that two patients had been misdiagnosed with ITP and one of them had received a splenectomy. We validated the frequency of misdiagnosis (~20%) and genotype-phenotype correlations through a comprehensive review of previously reported cases of MYH9RD in Korea. It is important to suspect MYH9RD in patients with thrombocytopenia, and timely identification of macrothrombocytopenia and MYH9 pathogenic variants is required for early and accurate diagnosis of MYH9RD.
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Collections - Medicine > Department of Medicine > 1. Journal Articles
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