Kadali Srilatha, Kolusu Anusha, Gummadi Maheshwar Reddy, Undamatla Jayanthi
Sandor Lifesciences Pvt Ltd, Hyderabad, India.
Sandor Lifesciences Pvt Ltd, Hyderabad, India
J Child Neurol. 2014 Oct;29(10):1377-82. doi: 10.1177/0883073813515075. Epub 2014 Apr 2.
Lysosomal storage disorders are a group of rare, genetically inherited metabolic disorders. Because the literature on epidemiologic data is scanty from India, we attempted to determine their relative frequency and regional distribution. Our retrospective study included 1558 patients with clinical suspicion of various lysosomal storage disorders referred to Sandor Lifesciences Pvt Ltd during 2007 to 2012. About 30% of the cases were tested positive, with sphingolipidoses as the most common subgroup, followed by mucopolysaccharidoses, and Gaucher disease as the most frequently occurring individual lysosomal storage disorder. Our data indicates that lysosomal storage disorders are more common in males than females and infants comprise the most common age group followed by juvenile. The burden of these disorders is predicted to be high in India because of the large population, coupled with the practice of consanguineous marriages. This study emphasizes the importance of epidemiologic studies in order to implement appropriate preventive measures.
溶酶体贮积症是一组罕见的、遗传代谢性疾病。由于印度关于流行病学数据的文献较少，我们试图确定它们的相对发病率和地区分布。我们的回顾性研究纳入了2007年至2012年间转诊至桑多生命科学私人有限公司、临床怀疑患有各种溶酶体贮积症的1558例患者。约30%的病例检测呈阳性，鞘脂类贮积症是最常见的亚组，其次是黏多糖贮积症，戈谢病是最常发生的单一溶酶体贮积症。我们的数据表明，溶酶体贮积症在男性中比女性更常见，婴儿是最常见的年龄组，其次是青少年。由于人口众多，加上近亲结婚的习俗，预计这些疾病在印度的负担会很高。这项研究强调了流行病学研究对于实施适当预防措施的重要性。
