Kandur Yasar, Kocakap Derya Beyza Sayın, Alpcan Aysegul, Sanlı Cihat, Sayan Cemile Dayangan, Koyuncu Ömer Lütfi
Department of Pediatrics, School of Medicine, Kirikkale University, Kirikkale, Türkiye.
Department of Medical Genetics, School of Medicine, Kirikkale University, Kirikkale, Türkiye.
J Pediatr Genet. 2023 Sep 6;13(4):272-276. doi: 10.1055/s-0043-1774292. eCollection 2024 Dec.
We aimed to evaluate the clinical characteristics and the risk factors for the anomalies of Down's syndrome (DS) patients and reviewed the relation of blood groups of the patients and the mothers with these anomalies. Pediatric patients who were diagnosed with trisomy 21 between 2010 and 2022 were enrolled in this study. The medical records of the DS patients and their parents were retrospectively reviewed. A total of 48 patients applied to our clinic. 24 (50%) patients were diagnosed with congenital heart disease. 21 (43.75%) patients had hypothyroidism. The distribution of individual congenital heart defects (CHDs) was as follows: ventricular septal defect in eight (33.3%) patients, one of which also had patent ductus arteriosus (PDA); atrioventricular septal defects in seven (29.1%) patients; atrial septal defects in four (16.6%) patients, one of which also had patent ducus arteriosus; and PDA in five (20.8%) patients. One (4.2%) patient had tetralogy of Fallot. The incidence of CHD in patients with maternal blood group A was significantly higher than those without CHD, with a prevalence of 63.6 and 21.1%, respectively ( = 0.020). Binary logistic regression analysis showed that maternal blood group A was a risk factor for CHDs (odds ratio = 6.563; 95% confidence interval: 1.259-34.204; = 0.025). Although we found that the rate of advanced father age was high in hypothyroidism type, the regression analysis showed that it was not a risk factor. We found that maternal blood group A increased the likelihood of being born with CHDs in DS.
我们旨在评估唐氏综合征(DS)患者异常情况的临床特征和风险因素,并探讨患者及其母亲的血型与这些异常情况之间的关系。本研究纳入了2010年至2022年间被诊断为21三体综合征的儿科患者。对DS患者及其父母的病历进行了回顾性分析。共有48例患者到我们诊所就诊。24例(50%)患者被诊断患有先天性心脏病。21例(43.75%)患者患有甲状腺功能减退症。个体先天性心脏缺陷(CHD)的分布如下:8例(33.3%)患者为室间隔缺损,其中1例还伴有动脉导管未闭(PDA);7例(29.1%)患者为房室间隔缺损;4例(16.6%)患者为房间隔缺损,其中1例也伴有动脉导管未闭;5例(20.8%)患者为PDA。1例(4.2%)患者患有法洛四联症。母亲血型为A的患者中CHD的发生率显著高于无CHD的患者,患病率分别为63.6%和21.1%(P = 0.020)。二元逻辑回归分析表明,母亲血型为A是CHD的一个风险因素(比值比 = 6.563;95%置信区间:1.259 - 34.204;P = 0.025)。虽然我们发现甲状腺功能减退类型中父亲高龄的比例较高,但回归分析表明这不是一个风险因素。我们发现母亲血型为A会增加DS患者患CHD的出生可能性。