지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 224 - 231 (8page)
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초록· 키워드
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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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참고문헌 (19)
참고문헌 신청
Pecci A / 2014 / MYH9-related disease : a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations / Hum Mutat 35:236~247
Balduini CL / 2011 / Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias / Br J Haematol 154:161~174
Thakral B / 2015 / Misdiagnosed MYH9 related inherited macrothrombocytopenia with an inadvertent splenectomy / Pathology 47:377~379
Williamson DR / 2013 / Thrombocytopenia in critically ill patients receiving thromboprophylaxis : frequency, risk factors, and outcomes / Chest 144:1207~1215
Savoia A / 2017 / MYH9 gene mutations associated with bleeding / Platelets 28:312~315
Balduini CL / 2011 / Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias / Br J Haematol 154:161~174
Thakral B / 2015 / Misdiagnosed MYH9 related inherited macrothrombocytopenia with an inadvertent splenectomy / Pathology 47:377~379
Williamson DR / 2013 / Thrombocytopenia in critically ill patients receiving thromboprophylaxis : frequency, risk factors, and outcomes / Chest 144:1207~1215
Savoia A / 2017 / MYH9 gene mutations associated with bleeding / Platelets 28:312~315
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