Abstract: Objective To analyze the clinical data and gene sequencing results of two cases of children with Wiskott-Aldrich syndrome (WAS) and to discuss the diagnosis and treatment so as to improve understanding of the disease. Methods The clinical features, laboratory findings and treatment of two infants diagnosed with WAS in Department of Pediatrics in Zhujiang Hospital of Southern Medical University were retrospectively analyzed. The Sanger sequencing method was used to detect WAS gene mutations in the patients and some of their family members, and the family characteristics were analyzed. Results The two cases were respectively onset at the age of 2 months and 1 month, with petechiae, bloody stool and eczema, and recurrent respiratory and gastrointestinal infections. Blood routine examination showed thrombocytopenia and small platelet volume. Immune function tests showed normal or decreased levels of IgG, IgM and IgA and increased ratio of CD4 +/CD8 + T cells. Bone marrow morphology suggested dysmaturity of megakaryocytes. The electron microscopy scanning was done in one of the cases showing disappearance of cell surface villi and a crumpled cell shape. Results of WAS gene sequencing: Case 1 was detected with c.IVS3 -7T> G and his mother and sister were carriers; Case 2 was detected with c.1057_1058delAC (p.P341fsX493) and his mother and younger sister were carriers while gene test results of elder sister and his cousin were normal. These two cases were misdiagnosed as immune thrombocytopenia (ITP) before the diagnosis of WAS, and were repeatedly treated with glucocorticoid with no improvement. After the diagnosis of WAS, the two infants were treated with intravenous immunogloblin (IVIG) and case 2 underwent allogeneic hematopoietic stem cell transplantation (HSCT). Being followed up to 9 years and 7 months old (case 1) and 7 years and 10 months old (case 2) respectively, the two children were both alive. Epstein-Barr virus (EBV) infection and recurrent hemolytic anemia occurred during the follow-up in case 1, while case 2 lived without disease. Conclusions Male patients with thrombocytopenia, eczema and infection in their early life that did not improve with glucocorticoid treatment should be alert to the possibility of WAS. Genetic testing is the gold standard for WAS diagnosis. Regular immunoglobulin infusion is an important supportive treatment. HSCT is an effective treatment currently.
林丹娜, 余莉华, 王小兰, 等. Wiskott-Aldrich综合征的临床特点及基因诊断[J]. 发育医学电子杂志, 2018, 6(1): 34-39.
LIN Dan-na, YU Li-hua, WANG Xiao-lan, et al. Clinical features and gene diagnosis of children with Wiskott-Aldrich syndrome. Journal of Developmental Medicine(Electronic Version), 2018, 6(1): 34-39.
2018, Vol. 6 
