新生儿先天性甲状腺功能低下症的筛查与治疗评估

目的探讨先天性甲状腺功能低下症(甲低)的筛查、治疗方法和随访及疗效评估。方法采用时间分辨荧光免疫法检测滤纸血斑中促甲状腺素(TSH)水平;对召回的可疑患儿,采用化学发光免疫法检测血清甲状腺功能,确诊后予以左甲状腺素钠治疗,正规治疗2~3年后,停药观察,结合甲状腺核素扫描或超声检查、智力测定、骨龄检测及体格检查,进行疗效评估。结果筛查新生儿557 193例,检出甲低339例,发病率1/1644。其中治疗满18个月以上221例(治疗18个月~2年34例、2~3年112例、>3年75例)。甲状腺核素扫描100例,超声检查150例(2项均检查29例):甲状腺异常48例(缺如、异位各8例,发育不良32例);正常173例。发育商>85者98.6%,平均106.5;骨龄发育正常75%,稍落后25%;身高与体质量均达正常。治疗评估:48例确诊为原发性甲低,予终身治疗;173例暂时性甲低,其中86例停药观察,可终止治疗69例,确诊为暂时性甲低;重新恢复治疗9例,确诊为亚临床甲低;继续随访8例。结论开展新生儿疾病筛查,结合安全有效的治疗和规范的随访,完全能预防智残疾病发生和保障儿童体格和智能正常发育。     

Diagnóstico y seguimiento de los pacientes con hipotiroidismo congénito diagnosticados por cribado neonatal

The screening program of congenital hypothyroidism (CH) is probably one of the best achievements in paediatrics. Thyroid hormones are essential for brain development and brain maturation that continue through the neonatal period. Hypothyroidism that begins in the first months of life causes irreversible damage to the central nervous system, and is one of the most frequent and preventable causes of mental retardation. As children with congenital hypothyroidism are born with a normal appearance, analytical studies are required to immediately start the appropriate therapy.This article analyses the aims, diagnostic procedures, tests required, aetiology, and differential diagnosis in this disorder. Especially relevant is to perform frequent monitoring to ensure dose adjustments of L-Thyroxine therapy, avoiding infra- or supra-dosing that negatively affects neurosensory functions. Re-evaluation of the aetiology permanent vs transient hypothyroidism is always recommended after 3 years of chronological age.The relevance of this screening program should be widely discussed in paediatrics. The main objective is to avoid cerebral damage in these patients, and has been highly successful and economically beneficial.Other aspects are required to optimise patient outcomes, to perform all the controls according to the recommendations and to include, in the near future, the diagnosis of central hypothyroidism. Implementation of this program is necessary to progress in accordance with current scientific knowledge.     

甲状腺功能减退症患者便秘的护理干预研究

目的研究探讨甲状腺功能减退症患者便秘的护理干预措施。方法将86例甲减便秘者随机分为干预组及对照组,干预组给予患者针对饮食、饮水、运动及局部按摩等八个方面进行指导的综合护理干预措施,对照组给予常规护理。干预效果评价的主要指标为最近7 d的排便次数及粪便性状,评价的时间分别为入院时和干预后的第3周。结果干预组患者的排便次数、粪便性状及其他认知、行为方面都有显著改善,与对照组之间的差异有统计学意义,P﹤0.01。结论通过综合的护理干预措施改善甲减患者便秘效果好。     

Hearing in Congenital Hypothyroidism

The hearing profile of children with congenital hypothyroidism was studied in 45 patients with thyroid gland agenesis, hypogenesis or dyshormogenesis, during adequate substitution therapy. Preliminary, secretory otitis media was found in 6 patients under the age of 6 years; in these children, hearing assessment was performed after cure of the middle ear effusion. Hearing threshold was measured either by conventional pure-tone audiometry or conditioned orientation reflex audiometry according to the patient's age (above and below 4 years). In 36 patients (80%) the auditory thresholds were normal; in the remaining 9 patients (20%) a sensorineural hearing loss of different degree was detected; in 5 cases (11%) the deafness was important and required auditory rehabilitation, with the use of a hearing aid in 4 of them. No relation could be found between hearing acuity and bone age at diagnosis of hypothyroidism or aetiology of thyroid dysfunction. It is concluded that in about one tenth of the children with congenital hypothyroidism a substantial deafness persists. The sensorineural nature of the hearing loss is in agreement with reported histological findings in congenital hypothyroid animals, where an immature development of the organ of Corti including hair cells and tectorial membrane has been observed.     

原发性甲状腺功能减退所致认知功能损伤的可逆性分析

目的 探讨接受甲状腺激素替代治疗后激素水平恢复时患者认知功能损伤的可逆性.方法 进行纵向研究,入选甲状腺功能减退(甲减)患者20例,平均年龄(47.6±10.9)岁,进行6个月的甲状腺激素替代治疗,并选取与其相匹配的同年龄、同文化程度、同性别、甲状腺功能(甲功)正常对照者20名.对治疗前、后的甲功及认知功能损伤进行评估.结果 甲状腺激素替代治疗6个月后,甲减患者在神经心理学实验中的画钟表试验、图像记忆、摆积木、复杂图形复制、复杂图形回忆及图形延迟回忆、连线A、词表学习第1次、词表延迟回忆、词语再认、数字顺背、数字倒背、词语流畅性、数字符号实验均较治疗前有明显提高(P＜0.05),而词语学习第2次及第3次、连线B与治疗前相比无差异(P＞0.05).结论 经过甲状腺激素替代治疗,甲减所造成的认知功能损伤可恢复.     

Thyroid Hormones and Cardiovascular Function and Diseases

Thyroid hormone (TH) receptors are present in the myocardium and vascular tissue, and minor alterations in TH concentration can affect cardiovascular (CV) physiology. The potential mechanisms that link CV disease with thyroid dysfunction are endothelial dysfunction, changes in blood pressure, myocardial systolic and diastolic dysfunction, and dyslipidemia. In addition, cardiac disease itself may lead to alterations in TH concentrations (notably, low triiodothyronine syndrome) that are associated with higher morbidity and mortality. Experimental data and small clinical trials have suggested a beneficial role of TH in ameliorating CV disease. The aim of this review is to provide clinicians dealing with CV conditions with an overview of the current knowledge of TH perturbations in CV disease.     

TDI评价亚临床型甲状腺功能减退患者左室功能

摘要：目的应用组织多普勒超声心动图评价亚临床型甲状腺功能减退（SH）患者左室功能。方法采集29例SH及25例正常对照组每个人的常规超声心动图图像及二尖瓣环的组织多普勒图像，记录下参数包括：二尖瓣血流频谱E峰及A峰，E／A、TDI收缩期峰值速度（S），射血时间（ET）、等容收缩期峰值速度（IVV）、等容收缩期加速度（IVA）、等容加速时间（AT）、舒张早期峰值（E’）与舒张晚期峰值（A’）及E’／A’、E／E’比值、等容舒张时间（IVRT），计算出心肌做功指数[MPIMPI=（IVCT＋IVRT）／ET]。结果SI-I组A值较正常组高，E／A较正常组低，E’值较正常组低，E／E’值较正常组高，且均具有显著的统计学意义（P〈0．05）。IVV及IVA值较对照组减低，等容收缩期时间（IVCT）较对照组高，MPI较对照组低，且两组数值均具有明显差别（P〈0．05）。结论亚临床型甲状腺功能减退患者左室收缩及舒张功能减退。