目的 总结并分析2010-2016年陕西省新生儿疾病筛查中心高苯丙氨酸血症(HPA)、先天性甲状腺功能减低症(CH)的筛查及治疗、随访情况。方法 新生儿出生72 h后采集足跟血,制成干血滤纸片,采用荧光法检测滤纸干血斑中苯丙氨酸(Phe)、促甲状腺素(TSH)的水平,Phe ≥2.0 mg/dl、TSH ≥10 μU/ml为阳性,阳性病人召回复查,采用串联质谱法检测血Phe、酪氨酸(Tyr),化学发光免疫分析技术检测甲状腺功能五项(TSH、T₃、T₄、FT₃、FT₄)而确诊。结果 2010-2016年全省助产机构活产数共2 751 268例,接受筛查2 329 335例,筛查率84.67%;确诊轻度HPA 131例,发病率1/17 781;确诊苯丙酮尿症(PKU) 300例,发病率1/7 764; 确诊CH 966例,发病率1/2 411。确诊后即建立病历档案,分别给予低苯丙氨酸饮食及口服左旋甲状腺素片(L-T₄)替代治疗。通过Gesell发育量表监测发育情况,发现6月龄内开始接受治疗的PKU患儿智商(IQ)水平明显优于6月龄后开始治疗的患儿(P<0.01),筛查确诊后即坚持治疗随访的CH 患儿,其IQ与正常同龄儿无明显差异(P>0.05)。结论 全面开展新生儿疾病筛查,提高筛查覆盖率,尽早规范化开始治疗及长期随访监测,可使PKU、CH患儿避免体格和智力不可逆损害,对改善其预后和生存质量意义重大。

Objective To summarize and analyze the screening results, treatment and follow-up of hyperhenylalaninemia (HPA) and congenital hypothyroidism (CH) in neonatal screening center of Shaanxi province from 2010 to 2016.Methods Newborn fetus heel blood was collected 72 hours after birth, and dried blood filter paper was made. The levels of phenylalanine (Phe) and thyrotropin (TSH) were tested, and patients with positive results of Phe ≥2.0 mg/dl、TSH ≥10 μU/ml were recalled for diagnosis. The blood levels of Phe and Tyr were detected by tandem mass spectrometry (MS/MS), and thyroid function (TSH,T₃,T₄, FT₃, FT₄) was detected and analyzed by chemiluminescence immunoassay, so that the diagnosed was made.Results The number of live births in the province′s midwifery institutions was 2 751 268 cases from 2010 to 2016, 2 329 335 (84.67%) cases were screened. Totally 131(1/17 781), 300 (1/7 764), 966 (1/2 411) cases were diagnosed with mild HPA, phenylketonuria (PKU) and CH, respectively. Medical records were established after the diagnosis, and participants were given low-phenylalanine diet and oral levothyroxine tablets (L-T₄) alternative treatment. Gesell Developmental Scale assessment results indicated that PKU children who started treatment within 6 months of age had significantly higher intelligence quotient (IQ) than those who started treatment after 6 months of age (P<0.01). Follow-up monitoring indicated that there was no significant difference on IQ between CH children and normal children after sustained treatment (P>0.05).Conclusion Comprehensive screening of neonatal diseases, increasing screening coverage, standardization of treatment and long-term follow-up monitoring as soon as possible can prevent PKU and CH children from irreversible impairment of physical and mental status, which is of great significance in improving their prognosis and quality of life.