Yaqoob Muhammad, Manzoor Jaida, Hyder Syed Najam, Sadiq Masood
University Institute of Public Health, University of Lahore, 1-km Defense Road, Lahore.
Departments of Pediatric Endocrinology, The Children's Hospital and the Institute of Child Health, Lahore, Pakistan.
Turk J Pediatr. 2019;61(6):915-924. doi: 10.24953/turkjped.2019.06.013.
Yaqoob M, Manzoor J, Hyder SN, Sadiq M. Congenital heart disease and thyroid dysfunction in Down syndrome reported at Children`s Hospital, Lahore, Pakistan. Turk J Pediatr 2019; 61: 915-924. Down syndrome is one of the main causes of intellectual disability in children. It occurs in every community and ethnic group. Several co-morbid conditions are associated with this syndrome. The present study was conducted to determine the frequency of congenital heart disease and thyroid dysfunction in a group of children affected with this genetic disorder. It was a record based retrospective study. A child having specific clinical features and chromosomal analysis showing an extra chromosome 21 was diagnosed as having Down syndrome. Diagnosis of congenital heart disease was based upon results of echocardiography. Thyroid dysfunction was diagnosed when either or both tetraiodothyronine and thyroid-stimulating hormone serum levels were abnormal. Three hundred and fifty cases were enrolled in the study according to the preset criteria for Down syndrome. Two hundred and ten (60%) were males and 140 (40%) females showing male to female ratio as 1.5 to 1. Majority of the children (55.1%) presented between 7 months and 24 months of age. Congenital heart defects were found in 41.8% of the cases. Ventricular septal defect was the most common, 41%. Thyroid dysfunction was found in 22% (n=60) of the cases of which 5.9% (n=16) had hypothyroidism. In conclusion, the frequency of congenital heart disease and thyroid dysfunction in Down syndrome children is high. Early referral of these children to tertiary health care facilities is emphasized as timely detection and management of these comorbid conditions will help in reducing the morbidity and mortality in this group of children.
亚库布·M、曼佐尔·J、海德尔·S·N、萨迪克·M。巴基斯坦拉合尔儿童医院报告的唐氏综合征患儿先天性心脏病与甲状腺功能障碍。《土耳其儿科学杂志》2019年；61: 915 - 924。唐氏综合征是儿童智力残疾的主要原因之一。它在每个社区和种族群体中都有发生。该综合征与几种共病情况相关。本研究旨在确定一组患有这种遗传疾病的儿童中先天性心脏病和甲状腺功能障碍的发生率。这是一项基于记录的回顾性研究。具有特定临床特征且染色体分析显示多一条21号染色体的儿童被诊断为患有唐氏综合征。先天性心脏病的诊断基于超声心动图结果。当血清四碘甲状腺原氨酸和促甲状腺激素水平一项或两项异常时，诊断为甲状腺功能障碍。根据唐氏综合征的预设标准，350例患儿纳入本研究。其中男性210例（60%），女性140例（40%），男女比例为1.5比1。大多数患儿（55.1%）年龄在7个月至24个月之间。41.8%的病例发现有先天性心脏缺陷。室间隔缺损最为常见，占41%。22%（n = 60）的病例发现有甲状腺功能障碍，其中5.9%（n = 16）患有甲状腺功能减退症。总之，唐氏综合征患儿先天性心脏病和甲状腺功能障碍的发生率较高。强调应尽早将这些患儿转诊至三级医疗保健机构，因为及时发现和处理这些共病情况将有助于降低这组患儿的发病率和死亡率。
