發(fā)布時間：2018-11-08 08:13

【摘要】：目的：分析重慶醫(yī)科大學附屬兒童醫(yī)院診斷為Wiskott-Aldrich綜合征（Wiskott-Aldrich syndrome， WAS）合并自身免疫性疾病（autoimmune disease，AD）的臨床資料，提高臨床工作者對該病的認識，為WAS伴自身免疫疾病的病人的早期診斷及治療提供經(jīng)驗。 方法：回顧性分析了我院2004年4月~2014年1月期間WAS患兒53例，所有患兒經(jīng)基因和WAS蛋白（WASp）流式細胞檢測確診。分析其中伴有自身免疫性疾病患兒的臨床特征、實驗室檢查、治療及轉歸。根據(jù)是否合并AD分為合并AD組與未合AD并組，分析2組之間免疫學檢查差異。 結果：1.53例WAS患兒中有14例合并AD，約占26%，均為男性，確診為WAS的中位年齡為12（2~147）月，確診為AD的中位年齡為17.5月。以自身免疫性溶血性貧血（autoimmune hemolytic anemia，AIHA）最多見，共12例（23%），其他包括免疫性血小板減少癥（immunethrombocytopenia, ITP）、免疫性粒細胞減少癥、免疫性關節(jié)炎及腎臟損害各1例（2%）。12例僅合并1種AD，有2例（4%）合并兩種AD，1例合并AIHA及ITP，1例合并AIHA及粒細胞減少。 2.53例患兒中，6例評分2分，為X-連鎖血小板減少癥（X-linkedthrombocytopenia, XLT）；其余患兒評分均≥3分，除1例發(fā)生AD者評分5分為XLT外，余均為典型WAS。28%的WAS患兒合并AD，14%的XLT患兒合并AD。 3.所有的AIHA患兒均在4歲前起病，主要臨床表現(xiàn)為貧血（100%）、黃疸（25%）、尿色加深（17%），所有患兒直接Coombs試驗均陽性。免疫性關節(jié)炎表現(xiàn)為慢性的多關節(jié)腫痛。腎臟損害患兒表現(xiàn)為反復血尿，以鏡下血尿為主，因持續(xù)性血小板少未行腎臟病理檢查。關節(jié)炎和腎臟損害患兒在8歲后起病。 4.多數(shù)患兒IgG（8/11）和IgA（6/11）均升高，IgM（6/11）降低。4例CD3+T例下降，6例CD4+T下降及CD4+/CD8+比例倒置，CD19+B（7/11）及CD56++16+NK細胞（8/11）多數(shù)正常，與未合并AD組比較均無顯著差異（P＞0.05）。 5.8例AIHA患兒行造血干細胞移植（hematopoietic stem celltransplantation，HSCT）治療，3例患兒發(fā)生移植前，5例在移植后發(fā)生。33%AIHA僅用激素治療，67%患兒接受激素聯(lián)合靜脈丙種球蛋白（intravenous immunoglobulin，IVIG）和或免疫抑制劑治療，42%患兒經(jīng)治療后達到部分緩解（partial remission，，PR），33%達完全緩解（complete remission，CR），17%患兒無效，8%患兒復發(fā)。最終有5例（42%）患兒死亡，3例死于移植后肺部感染，2例在移植前死于顱內(nèi)出血和肺出血。免疫性關節(jié)炎接受IVIG治療后癥狀好轉，腎臟損害患兒因發(fā)生慢性腎功能不全需長期激素和免疫抑制劑治療。 結論：自身免疫疾病在WAS較常見，我國WAS自身免疫表現(xiàn)以AIHA多見。激素、IVIG或免疫抑制劑治療僅部分或短暫有效。其他AD類型如血小板減少、粒細胞減少，關節(jié)炎和腎臟損害偶見。AD是WAS和XLT預后不良因素之一。匹配的干細胞移植是治療WAS及其自身免疫并發(fā)癥的最終有效解決方法。
[Abstract]:Objective: to analyze the clinical data of Wiskott-Aldrich syndrome (Wiskott-Aldrich syndrome, WAS) combined with autoimmune disease (autoimmune disease,AD) in Children's Hospital affiliated to Chongqing Medical University, and to improve the understanding of the disease among clinical workers. To provide experience for early diagnosis and treatment of WAS patients with autoimmune disease. Methods: 53 cases of WAS from April 2004 to January 2014 in our hospital were retrospectively analyzed. All of them were diagnosed by flow cytometry of gene and WAS protein (WASp). To analyze the clinical features, laboratory examination, treatment and prognosis of children with autoimmune diseases. According to whether the AD was combined or not, the patients were divided into two groups: the AD group and the non-concomitant AD group. The difference of immunological examination between the two groups was analyzed. Results: 1.14 of 53 cases of WAS were associated with AD, all of them were male. The median age of diagnosed WAS was 12 months (21,147) months, and the median age of diagnosed AD was 17.5 months. Autoimmune hemolytic anemia (autoimmune hemolytic anemia,AIHA) was the most common, with 12 cases (23%), and other cases including immune thrombocytopenia (immunethrombocytopenia, ITP), immune granulocytopenia (immunethrombocytopenia, ITP), and autoimmune hemolytic anemia (autoimmune hemolytic anemia,AIHA). One case (2%) was immune arthritis and 1 case (2%) with renal damage, 2 cases (4%) were complicated with only one type of AD, 2 cases (4%) with two types of AD,1, AIHA and ITP,1 cases with AIHA and granulocytopenia. 2. Of the 53 children, 6 had a score of 2, which was X-linked thrombocytopenia (XLT);). All the other children had 鈮

本文編號：2317892