神经纤维瘤病 1 队列的内分泌评估：是否有必要评估神经纤维瘤病 1 中的自身免疫性甲状腺炎？
Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?
机构信息
Clinic of Pediatric Neurology, Edirne Sultan 1st Murat State Hospital, Edirne, Turkey.
Department of Medical Genetics, Bezmialem Vakıf University School of Medicine, İstanbul, Turkey.
出版信息
Balkan Med J. 2017 Dec 1;34(6):522-526. doi: 10.4274/balkanmedj.2015.1717. Epub 2017 May 29.
BACKGROUND
Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously.
AIMS
To determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid diseases.
STUDY DESIGN
Case-control study.
METHODS
The study includes 78 consecutive patients diagnosed with neurofibromatosis type 1 between June 2010 and June 2014 and 50 healthy controls. Baseline demographic data were generated from patient examination record forms, including age, sex, height, and weight, as well as levels of free triiodothyronine, free thyroxine, thyroid-stimulating hormone, anti-thyroid peroxidase and anti-thyroglobulin levels.
RESULTS
Mean age, sex, and body mass index were similar in both groups (p>0.05). The mean levels of free triiodothyronine, free thyroxine, and thyroid-stimulating hormone were not statistically different between the neurofibromatosis type 1 and control groups. Similarly, no statistically significant difference was observed between the neurofibromatosis type 1 and control groups for anti-thyroid peroxidase and anti-thyroglobulin positivity (2.5% vs 0%, p>0.05).
CONCLUSION
Screening for autoimmune thyroid disease and thyroid function seems to be unnecessary in patients with neurofibromatosis type 1.
背景
神经纤维瘤病 1 型是一种常染色体显性遗传性神经皮肤疾病，先前已有报道其同时存在自身免疫性甲状腺炎和甲状腺肿瘤。
目的
确定神经纤维瘤病 1 型患者的甲状腺功能和自身免疫性甲状腺疾病，以确定神经纤维瘤病 1 型与甲状腺疾病之间的可能关联。
研究设计
病例对照研究。
方法
本研究纳入了 2010 年 6 月至 2014 年 6 月期间确诊的 78 例连续神经纤维瘤病 1 型患者和 50 名健康对照者。从患者检查记录表格中生成了基线人口统计学数据，包括年龄、性别、身高和体重，以及游离三碘甲状腺原氨酸、游离甲状腺素、促甲状腺激素、抗甲状腺过氧化物酶和抗甲状腺球蛋白水平。
结果
两组的平均年龄、性别和体重指数相似（p>0.05）。神经纤维瘤病 1 型组和对照组的游离三碘甲状腺原氨酸、游离甲状腺素和促甲状腺激素水平无统计学差异。同样，神经纤维瘤病 1 型组和对照组的抗甲状腺过氧化物酶和抗甲状腺球蛋白阳性率也无统计学差异（2.5%对 0%，p>0.05）。
结论
神经纤维瘤病 1 型患者似乎无需常规筛查自身免疫性甲状腺疾病和甲状腺功能。
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