Quantitative and qualitative comparison of neonatal screening plan for the identification of hypothyroid neonates between Nahavand and Kashmar cities in 2016–2017 (respectively in the west and east of Iran)

Background: Congenital hypothyroidism is the result of a reduction in thyroid hormone production or a decrease in the activity of thyroid hormone receptors and is one of the most preventable causes of mental retardation, deafness, and heart problems in the world. This study aimed to compare the prevalence of congenital hypothyroidism between Nahavand in the west of Iran and Kashmar in the east of Iran during the years 2016 2017. Methods: This is a cross-sectional descriptive study on neonates born in April 2016 to March 2018 in two cities of Nahavand and Kashmar. A few drops of blood from a baby's heel in 3 5 birthdays on a special filter paper (S & S903) became blood samples from the pelvic floor were filtered and dried. The valuation of the samples was performed by the enzyme linked immunosorbent assay method by evaluating the thyroid stimulating hormone. Premature infants, underweight (less than 2,500 grams), a weight of over 4 kg, multiple births, or newborns requiring blood transfusions or any newborn needed to be retaken to the test after two weeks. Results: In the city of Nahavand, the incidence of neonatal hypothyroidism in the years 2016 and 2017 were 6.7 and 9.09 per 1,000 live births. And for the city of Kashmar, this number increased to 5.6 and 4.3 per 1,000 births in 2016 and 2017, respectively. The mean rate of participation in the screening program in the first 3 5 days of birth in Nahavand during two years was 2016 and 2017 to 78.7% and in Kashmar about 94%, which indicates the higher participation of Kashmar. In the city of Nahavand, 64.6% of cases of hypothyroidism reported in boys' neonates and 51.5% of male children in the Kashmar city. Conclusion: The results of our survey indicates that the prevalence of hypothyroidism is high in both Kashmar in eastern Iran and Nahavand in western Iran. Especially in Nahavand city of western Iran, where the prevalence of hypothyroidism is higher than global and internal statistics. Further surveys are required to elucidate the role of iodine deficiency and family marriage in the hereafter.

96868例新生儿苯丙酮尿症的筛查结果分析

目的分析96868例新生儿苯丙酮尿症的筛查结果,提高出生人口素质。方法对2014年1月至2018年12月96868例新生儿筛查资料进行统计分析,在出生后72 h,充分母乳喂养后采集新生儿足跟血测定其中丙氨酸含量,及时将筛查结果为阳性者召回,规定阳性标准为血苯丙氨酸浓度>103.02μmol/L,经二次复查确诊对治疗结果展开追踪调查。结果本文共筛查96868例新生儿,初次筛查结果显示67例新生儿为阳性病例,最终确诊结果为27例阳性病例,其中2例有苯丙酮尿症家族史,新生儿苯丙酮尿症发病率为0.028%(27/96868);有12例新生儿为苯丙氨酸(Phe)缺乏症,占比44.44%,有10例新生儿为轻度苯丙酮尿症,占比37.04%,有1例新生儿为四氢生物蝶呤(BH4)缺乏症,占比3.70%,有1例为其他代谢病(希特林蛋白缺乏症);在对确诊新生儿治疗情况进行随访发现,其智力、体格均发育良好。结论对新生儿开展疾病筛查工作可实现对苯丙酮尿症的早期有效诊断目的,指导医护人员采用早筛查、早诊断、早治疗等措施降低新生儿智障发生率,提高儿童平均保健水平。

智力低下儿童与苯丙酮尿症杂合子

用血浆Ｐｈｅ浓度和Ｐｈｅ／Ｔｙｒ，Ｐｈｅ２／Ｔｙｒ，Ｐｈｅ／ＬＮＡＡ比值，以其中一项或一项以上大于正常（成人或儿童）Ｘ＋２Ｓ为诊断杂合子依据，分析了７５例智低原因不明儿童，６例新生儿筛查疑高苯丙氨酸血症小儿及部分父母。结果显示有２６例儿童（２３／７５，３／６）符合杂合子诊断，其中１０例的父母１８人中１２人符合杂合子标准。

成都市1992-2008年新生儿遗传代谢病筛查分析

目的 分析和总结成都市新生儿遗传代谢病筛查状况.方法 对成都市1992-2008各产科执业单位送交的新生儿遗传代谢病筛查标本,采用国家推荐的时间分辨免疫荧光分析法、酶免疫荧光分析法和酶联免疫吸附法三种实验方法 进行促甲状腺激素浓度测定;用荧光分析法、定量酶法、细菌抑制法测定血斑苯丙氨酸浓度.结果 成都市1992-2008年底共筛查新生儿520 116名.全市筛查率从1992年的2.58%提高到2008年93.71%;趋势χ2=-2541507.00,P〈0.001;可疑病人复查率逐年提高到2008年的97.26%,趋势χ2=-723.74,P〈0.001,有显著性差异.17年来共确诊先天性甲状腺功能减低症患儿251名,苯丙酮尿症患儿26名,经过积极治疗大部分患儿智能发育达到正常同龄水平.结论 通过新生儿遗传代谢病筛查使先天性甲状腺功能减低症、苯丙酮尿症患儿得到了早期诊断和治疗,从而避免或减少了其智力低下的发生.

Congenital Hypothyroidism:A Report of Two Isolated Cases at National Hospital Abuja

Background:Congenital hypothyroidism is a disorder of thyroid gland morphogenesis.It is the commonest endocrine disorder in newborns occurring in 1:4,000 to 1:3,000 live births.The incidence in Nigeria has not been well documented probably due to lack of neonatal screening.Aim/objectives:To raise awareness of physicians to have a high index of suspicion for this treatable cause of mental retardation in children presenting with unusual symptoms.Case presentation:Case 1 presented to our hospital at 18 months of age with a respiratory tract infection.She had delayed developmental milestones and coarse facies among other features.This prompted a work up for hypothyroidism.Thyroid function tests done showed a profoundly hypothyroid picture and she was commenced on levothyroxine.Case 2 was referred to our facility at ninth week of age on suspicion of a congenital heart disease.The parents had complained of dry skin to the referring physician.She had a hypothyroid profile on laboratory evaluation.Conclusion:Congenital hypothyroidism should be suspected in children with unusual symptoms as it is a treatable cause of short stature and mental retardation.The introduction of newborn screening will go a long way in identifying the children in need of urgent thyroid replacement to prevent the negative consequences of untreated hypothyroidism.

青岛市四方区1997—2007年新生儿疾病筛查回顾性分析

目的回顾分析1997—2007年四方区新生儿先天性甲状腺功能低下(CH)、苯丙酮尿症(PKU)的筛查情况,总结经验,使新生儿筛查工作更加正规化、制度化,最大限度地降低智障儿的发生。方法新生儿出生后72h采足跟血滴于美国进口滤纸上,用荧光法检测血促甲状腺素(TSH),苯丙氨酸(Phe)浓度。结果四方区11年来共筛查29814例,确诊CH14例,(男∶女=1∶2.5)发病率为0.470‰;PKU患儿1例,发病率为0.033‰。结论新生儿疾病筛查是CH,PKU患儿早期诊断的有效方法:政府支持、政策得力、健全妇幼保健三级网络及严格控制实验室质量,保证100%的追访治疗率,是完善新生儿疾病筛查工作,有效降低智障儿发生的有效手段。

潍坊地区苯丙酮尿症患儿饮食治疗后智力发育情况分析

目的探讨苯丙酮尿症患儿特殊饮食治疗后智力发育情况以及与开始治疗时间和依从性的关系。方法采用0~6岁儿童神经心理发育量表对2002~2011年潍坊市新生儿疾病筛查中心确诊的60例PKU患儿和60例正常儿童进行测查。结果开始治疗年龄〈40天组与开始治疗年龄〉40天组比较,在适应性、大运动、语言3个能区差异有统计学意义（P〈0.05）,而在精细运动、个人-社交2个能区差异无统计学意义（P〉0.05）。正常儿童组与饮食配合组智力发育差异无统计学意义（P〉0.05）,饮食配合组与不配合组患儿智力发育差异有统计学意义（P〈0.05）。结论经饮食控制的PKU患儿智力发育正常,治疗的起始时间以及严格的饮食治疗对于PKU患儿至关重要。