目的:溶酶体酸性脂肪酶缺乏症(LAL-D)是一种未被诊断的常染色体隐性疾病,发病在生命的最初几年和成年期之间。早期诊断对于有效治疗和长期生存至关重要。本文的目的是通过范围审查来识别儿科患者LAL-D的临床和实验室特征中的警告标志。
方法:Embase中的电子搜索,PubMed,Livivo,LILACS,WebofScience,Scopus,谷歌学者,打开灰色,和ProQuest学位论文和论文数据库。数据集包括婴儿临床和实验室特征的观察性研究,通过酶活性检测或溶酶体酸性脂肪酶基因(LIPA)突变分析诊断为溶酶体酸性脂肪酶缺乏症的儿童和青少年.参考选择过程分两个阶段进行。参考文献由两位作者选择,数据是在2020年6月提取的。
结果:最初的搜索返回了1593项研究,最终选择包括来自30个国家的108项研究,包括206名患者,包括患有Wolman病和胆固醇酯贮积病(CESD)的个体。在这两种疾病中最普遍的表现是肝肿大,脾肿大,贫血,血脂异常,转氨酶升高.
结论:呕吐,腹泻,黄疸,脾肿大可能是相关的,并可以作为研究LAL-D的起点。家族性淋巴组织细胞增生症应该是LAL-D鉴别诊断的一部分,所有接受上消化道内镜检查的患者均应接受肠活检。
OBJECTIVE: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D in pediatric patients through a scope review.
METHODS: Electronic searches in the Embase, PubMed, Livivo, LILACS, Web of Science, Scopus, Google Scholar, Open Gray, and ProQuest Dissertations and Theses databases. The dataset included observational studies with clinical and laboratory characteristics of infants, children and adolescents diagnosed with lysosomal acid lipase deficiency by enzyme activity testing or analysis of mutations in the lysosomal acid lipase gene (LIPA). The reference selection process was performed in two stages. The references were selected by two authors, and the data were extracted in June 2020.
RESULTS: The initial search returned 1593 studies, and the final selection included 108 studies from 30 countries encompassing 206 patients, including individuals with Wolman disease and cholesteryl ester storage disease (CESD). The most prevalent manifestations in both spectra of the disease were hepatomegaly, splenomegaly, anemia, dyslipidemia, and elevated transaminases.
CONCLUSIONS: Vomiting, diarrhea, jaundice, and splenomegaly may be correlated, and may serve as a starting point for investigating LAL-D. Familial lymphohistiocytosis should be part of the differential diagnosis with LAL-D, and all patients undergoing upper gastrointestinal endoscopy should be submitted to intestinal biopsy.