PDF(Pubmed)
Abstract：
Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult-onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on the occurrence of LSDs in an adult population from India. It describes, the key clinical signs seen in these patients and those from literature review that can aid in early detection. Of 2102 biochemically diagnosed LSDs cases, 32 adult patients were identified with LSDs. Based on the clinical suspicion, screening test and enzyme study was carried out. Twenty-two patients were subjected to a genetic study to identify the causative variant in a respective gene. Of the 32 adult patients, we observed a maximum percentage of 37.5% (n = 12) cases with Gaucher disease, followed by 13% (n = 4) with Fabry disease. We found 10% of cases with MPS IVA and MPS I, and 9% cases with Pompe. Single case of adult mucolipidosis III and two cases each of Type 1 Sialidosis, Niemann-Pick disease B and metachromatic leukodystrophy were identified. We observed two common variants p.Leu483Pro and p.Ala487Thr in the GBA1 gene in 23% of Indian patients with adult Gaucher disease. No common variants were observed in other aforementioned LSDs. Study identified 50% of Fabry patients and 4% of Gaucher patients diagnosed at our centre to be adults. The prevalence of adult Pompe patients was low (3.4%) as compared to 80% reported in the Caucasian population. Adult LSDs such as, MPS III, GM1/GM2 gangliosidosis and Krabbe disease were not identified in our cohort.
摘要：
成人溶酶体贮积症（LSD）具有较温和的表型和可变的年龄。一些研究已经描述了表型，像Gaucher这样的成人发病LSD的基因型和治疗结果，法布里,庞贝氏症和其他疾病。我们描述了有关印度成年人口中LSD发生的首次系统研究。它描述了，在这些患者中看到的关键临床体征以及可以帮助早期发现的文献综述。在2102例生化诊断的LSD病例中，32名成人患者被鉴定为LSD。基于临床怀疑,进行了筛选试验和酶学研究。对22名患者进行了遗传研究，以鉴定相应基因中的致病变异。在32名成年患者中，我们观察到戈谢病的最大百分比为37.5％（n=12），其次是13%(n=4)患有法布里病。我们发现10%的病例患有MPSIVA和MPSI，9％的Pompe病例。1例成人粘脂样变性III和2例1型唾液样变性,确定了尼曼-匹克病B和异染性脑白质营养不良。我们在23％的印度成年戈谢病患者中观察到GBA1基因中的两个常见变体p.Leu483Pro和p.Ala487Thr。在其他上述LSD中未观察到常见变体。研究确定50％的法布里患者和4％的戈谢尔患者在我们中心诊断为成人。成人庞贝患者的患病率较低（3.4％），而高加索人群中报告的比例为80％。成人LSD，如，MPSIII,在我们的队列中未发现GM1/GM2神经节苷脂和Krabbe病。
