Baliakas Panagiotis, Kättström Magdalena, Rossing Maria, Amini Rose-Marie
Department of Clinical Genetics Uppsala University Hospital Uppsala Sweden.
Science for Life Laboratory Department of Immunology, Genetics and Pathology Uppsala University Uppsala Sweden.
Clin Case Rep. 2018 Jul 20;6(9):1779-1780. doi: 10.1002/ccr3.1711. eCollection 2018 Sep.
Inherited conditions associated with thrombocytopenia should be included in the differential diagnosis of young patients with refractory immune thrombocytopenia (ITP), even in the absence of a positive family history. Early identification of such conditions is of vital importance in order to reach the right diagnosis and avoid unnecessary or even harmful medication.
即使没有阳性家族史,与血小板减少相关的遗传性疾病也应纳入难治性免疫性血小板减少症(ITP)年轻患者的鉴别诊断中。尽早识别这些疾病对于做出正确诊断以及避免不必要甚至有害的药物治疗至关重要。