Evaluation of Patients Referred to Children's Medical Center Laboratory for Diagnosis of Mucopolysaccharidoses: Eight Years' Experience from Iran

IF 0.3 Q4 PEDIATRICS
Rokhsareh Jafaryazdi, S. Shams, A. Setoodeh, R. S. Badv, V. Ziaee, F. Abbasi, Mohammad Taghi Haghi Ashtiani, Fatemeh Mozafari, L. Shafeghat
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Abstract

Mucopolysaccharidoses (MPSs) are rare lysosomal storage diseases, resulting from deficiencies of enzymes responsible for Glycosaminoglycans (GAGs) degradation. This leads to accumulation of GAGs in tissues and their excretion in urine, with a wide variety of manifestations. Early diagnosis of MPSs is strictly recommended due to available therapy that can slow down disease progression during the early ages. This study aimed to evaluate patients with suspected MPS referred to Children's Medical Center laboratory over eight years. We also evaluated the usefulness of urine GAG as a screening test for identification of such patients. A total of 1414 patients (40% female, 60% male, with mean age 3.1 ± 4.1years) have participated in this study. The urinary GAG analysis (uGAG) was performed by 1, 9-dimethyl-methylene blue (DMMB) and Berry spot test (BST). All patients with positive and mild positive results or with disease-related symptoms were evaluated in terms of definitive diagnosis, received treatments, morbidity, and mortality rate. In 407 (36.5%) patients uGAG were positive or mild positive, of which 26.3% suffered from one of the types of MPSs, 28.5% suffered from other diseases, 32.9% were undiagnosed, 12.3% were apparently healthy, and 19 died. The negative predictive value of uGAG test in our study was 100%. About 21% of MPSs patients received enzyme replacement therapy, while four patients underwent stem cell transplants. The rest received supportive care. We concluded that a combination of DMMB and BST methods has acceptable sensitivity for screening suspicious MPS patients.
转诊至儿童医学中心实验室诊断粘多糖的患者评估:来自伊朗的八年经验
粘多糖病(mps)是一种罕见的溶酶体积存病,由负责糖胺聚糖(GAGs)降解的酶缺乏引起。这导致GAGs在组织中积聚并随尿液排出,表现多样。mps的早期诊断是严格推荐的,因为现有的治疗可以在早期减缓疾病的进展。本研究旨在评估8年来儿童医学中心实验室的疑似MPS患者。我们还评估了尿液GAG作为鉴别此类患者的筛查试验的有效性。共纳入1414例患者,其中女性40%,男性60%,平均年龄3.1±4.1岁。采用1,9 -二甲基亚甲基蓝(DMMB)和Berry斑点试验(BST)进行尿GAG分析(uGAG)。所有阳性和轻度阳性结果或有疾病相关症状的患者在明确诊断、接受治疗、发病率和死亡率方面进行评估。407例(36.5%)患者ugg阳性或轻度阳性,其中26.3%患有一种mps, 28.5%患有其他疾病,32.9%未确诊,12.3%明显健康,死亡19例。在我们的研究中,uGAG试验的阴性预测值为100%。约21%的mps患者接受了酶替代治疗,而4例患者接受了干细胞移植。其余患者接受支持性治疗。我们的结论是,DMMB和BST方法联合筛查可疑MPS患者具有可接受的敏感性。
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CiteScore
0.50
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