Clinical characteristics and management of children with Wiskott-Aldrich syndrome / 中华实用儿科临床杂志

ABSTRACT

Objective To improve the early diagnosis of Wiskott-Aldrich syndrome (WAS),through summing up and analyzing the clinical characteristics of children with WAS.Methods The clinical and laboratory characteristics of 18 children with WAS,including the cases from Suzhou Jiulong Hospital,Shanghai Jiaotong University School of Medicine,and Tongji Hospital Affiliated to Tongji University,and the domestic reports in recent 6 years,were induced and analyzed.Results All patients were males;the average of incidence age was about 1.9 months and the average age at diagnosis was 10.8 months.All cases had the clinical characteristics of WAS including eczema,infection tendency and thrombocytopenia with small platelet size.Moreover,10/18 cases (55.56％) WAS patients progressed to severe cases (scores reached to 4 or 5 points)at diagnosis,and with the increase of age of the patients at diagnosis,the ratio of severe cases would be increased.The conventional immune function indexes showed no specific diagnostic value,and the typical clinical features and the WAS gene mutation detection were the key diagnostic basis.Seven cases used to be misdiagnosed as idiopathic thrombocytopenia,and received corticosteroids and intravenous immunoglobulin therapy.In a total of 18 cases,4 cases received allogeneic hematopoietic stem cell transplantation,of which,β cases were cured and 1 case died of transplantation-related interstitial pneumonia,while the remaining 14 cases are unknown for their with follow-up treatment and prognosis.Conclusions The typical clinical features and the WAS gene mutation detection were the key diagnostic basis.In order to improve the rate of early diagnosis and avoid misdiagnosis,it's a great need to improve the clinical understanding of WAS.