中华临床医师杂志(电子版)
中華臨床醫師雜誌(電子版)
중화림상의사잡지(전자판)
CHINESE JOURNAL OF CLINICIANS(ELECTRONIC VERSION)
2014年
4期
752-759
,共8页
蔡惠丽%刘尚勤%周怡%涂建成%STOLTZ Jean Fran?ois%LATGER-CANNARD Véronique
蔡惠麗%劉尚勤%週怡%塗建成%STOLTZ Jean Fran?ois%LATGER-CANNARD Véronique
채혜려%류상근%주이%도건성%STOLTZ Jean Fran?ois%LATGER-CANNARD Véronique
血小板减少%血小板计数%诊断
血小闆減少%血小闆計數%診斷
혈소판감소%혈소판계수%진단
Thrombocytopenia%Platelet count%Diagnosis
遗传性血小板减少症是一类以血小板减少为特征的罕见疾病。近几十年来,尽管该疾病的分子发病基础研究取得了显著进展,如发现大部分患者存在异常表达的基因,然而,其病理生理机制目前仍不十分清楚,诊断也较为困难。本文结合文献和我们的实践经验,对遗传性血小板减少症的分类、临床表现以及实验室血小板计数和形态学的特点作一综述,以助于提高临床医师和检验医师对该类疾病的诊断。
遺傳性血小闆減少癥是一類以血小闆減少為特徵的罕見疾病。近幾十年來,儘管該疾病的分子髮病基礎研究取得瞭顯著進展,如髮現大部分患者存在異常錶達的基因,然而,其病理生理機製目前仍不十分清楚,診斷也較為睏難。本文結閤文獻和我們的實踐經驗,對遺傳性血小闆減少癥的分類、臨床錶現以及實驗室血小闆計數和形態學的特點作一綜述,以助于提高臨床醫師和檢驗醫師對該類疾病的診斷。
유전성혈소판감소증시일류이혈소판감소위특정적한견질병。근궤십년래,진관해질병적분자발병기출연구취득료현저진전,여발현대부분환자존재이상표체적기인,연이,기병리생리궤제목전잉불십분청초,진단야교위곤난。본문결합문헌화아문적실천경험,대유전성혈소판감소증적분류、림상표현이급실험실혈소판계수화형태학적특점작일종술,이조우제고림상의사화검험의사대해류질병적진단。
Hereditary thrombocytopenias (or inherited thrombocytopenias) are a heterogeneous group of rare diseases characterized by a reduced number of blood platelet. In the past few decades, tremendous advances have been achieved in the understanding the molecular basis of these disorders, including identification of many defective genes in most cases. However, the pathophysiology is often unknown and the diagnosis is rarely straightforward. In the review, we summarized our knowledge of inherited thrombocytopenias and those from the literature in the classification, clinical manifestations, and particularly in the laboratory features of platelet numeration and morphology. This would provide valuable insights for clinicians and biologists in the diagnostic approaches to such disorders.