Satwani Hema, Raza Jamal, Hanai Junji, Nomachi Shosuke
Department of Paediatric Endocrinal Unit, National Institute of Child Health, Karachi, Pakistan.
J Pak Med Assoc. 2009 Dec;59(12):815-9.
To study the prevalence of selected disorders of inborn errors of metabolism at a tertiary care hospital in Karachi by performing selective screening of high risk clinically suspected individuals.
Cross sectional comparative study, was done at the Paediatric Endocrine Unit 2 of National Institute of Child Health Karachi in collaboration with Sapporo City Institute of Public Health, Japan. Sixty-two children age < 1 month-10 years meeting the inclusion criteria (Undiagnosed family history of similar illness or deaths, history of recurrent episodes of severe or persistent vomiting for which no infection or surgical cause was found and history of undiagnosed neurological symptoms and developmental delay) were enrolled in the study. Routine workup of inborn errors of metabolism was done in each child and their dried blood samples (DBS) and dried urine samples (DUS) were send to IEM Selective Screening Unit Japan. SPSS version 10 was used to derive results and p-value of < 0.05 was taken as statistically significant.
Out of 62 children, sixteen children (9 boys and 7 girls) were positive for inborn errors of metabolism (IEM). Respiratory distress (p = 0.042) and developmental delay (p = 0.048) were found to be the most common clinical presentations in our children. Out of 16 children with positive results, 14 children had history of death of siblings with similar complaints (p = 0.027). Consanguineous marriage was reported in 13 children. Among children with positive results 10 (62.5%) had organic acidemias, 1 (6.2%) had Ornithine Transcarbamylase (OTC) deficiency (Urea cycle defect) and 5 (31.2%) had congenital lactic acidemias.
Significant number of positive cases were seen in our series of patients, establishing the fact that IEM is prevalent in our population, though undiagnosed. Further such studies are needed on our side in future to determine incidence of metabolic disorders in Pakistan, which can be achieved by developing local facilities, neonatal screening programmes and collaboration with other countries who are actively working in this field.
通过对临床疑似高危个体进行选择性筛查，研究卡拉奇一家三级医疗医院中特定先天性代谢缺陷疾病的患病率。
本横断面比较研究由卡拉奇国家儿童健康研究所儿科内分泌科2与日本札幌市公共卫生研究所合作开展。62名年龄在1个月至10岁之间、符合纳入标准（有类似疾病或死亡的未确诊家族史、有反复严重或持续性呕吐发作史且未发现感染或手术病因、有未确诊的神经症状和发育迟缓史）的儿童被纳入研究。对每个儿童进行先天性代谢缺陷的常规检查，并将其干血样本（DBS）和干尿样本（DUS）送往日本先天性代谢缺陷选择性筛查单位。使用SPSS 10版得出结果，p值<0.05被视为具有统计学意义。
在62名儿童中，16名儿童（9名男孩和7名女孩）先天性代谢缺陷（IEM）检测呈阳性。呼吸窘迫（p = 0.042）和发育迟缓（p = 0.048）是我们研究中儿童最常见的临床表现。在16名检测结果呈阳性的儿童中，14名儿童有兄弟姐妹因类似症状死亡的病史（p = 0.027）。13名儿童报告有近亲结婚情况。在检测结果呈阳性的儿童中，10名（62.5%）患有有机酸血症，1名（6.2%）患有鸟氨酸转氨甲酰酶（OTC）缺乏症（尿素循环缺陷），5名（31.2%）患有先天性乳酸血症。
在我们的一系列患者中发现了大量阳性病例，证实了IEM在我们的人群中很普遍，尽管尚未得到诊断。未来我们需要进一步开展此类研究，以确定巴基斯坦代谢紊乱的发病率，这可以通过发展当地设施、新生儿筛查项目以及与该领域积极开展工作的其他国家合作来实现。
