Elevated Free Thyroxine Levels Detected by a Neonatal Screening System
Elevated Free Thyroxine Levels Detected by a Neonatal Screening System
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DOI：
10.1203/pdr.0b013e3181b1bcbd
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发表时间：
2009-09-01
影响因子：
3.6
通讯作者：
Fujieda, Kenji
中科院分区：
文献类型：
--
作者：
Tajima, Toshihiro;Jo, Wakako;Fujieda, Kenji
在日本的札幌市，新生儿先天性甲状腺功能减退症的筛查使用了滤纸血斑中游离甲状腺素（T4）和促甲状腺激素（TSH）的测量。该系统使我们能够识别高甲状腺素血症疾病。从4-6日龄出生的新生儿中收集滤纸，研究显示游离T4升高（>4.0 ng/dL，高于平均值4 SD）的新生儿。2000年1月至2006年12月，对83 232名新生儿进行了筛查。11名婴儿表现出持续性高甲状腺素血症。1例游离T4轻度升高而TSH正常的患者被诊断为家族性异常白蛋白血症性高甲状腺素血症（FDH）。另2例游离T4升高而TSH无抑制者考虑为甲状腺激素抵抗（RTH），甲状腺激素受体（TR）β基因分析证实了诊断。其余8例患者被诊断为新生儿Graves病（NGD）。8名孕妇中有7名接受了抗甲状腺药物治疗，因此在妊娠期间仅通过筛查检测到1例未识别的NGD。我们的筛查系统可以早期发现RTH和FDH。关于格雷夫斯病，提高游离T4筛查的益处很小，因为大多数格雷夫斯病孕妇都得到了管理。（Pediatr Res 66：312-316，2009）
In Sapporo city of Japan, neonatal screening for congenital hypothyroidism has used the measurement of free thyroxine (T4) and thyroid-stimulating hormone (TSH) in the filter-paper blood spot. This system has enabled us to identify hyperthyroxinemic diseases. Filter papers were collected from neonatal infants born at 4-6 d of age and neonates who showed elevated free T4 (>4.0 ng/dL, 4 SD above the mean) were studied. Between January 2000 and December 2006, 83,232 newborns were screened. Eleven infants demonstrated persistent hyperthyroxinemia. One patient with slightly elevated free T4 and normal TSH was diagnosed as having familial dysalbuminemic hyperthyroxinemia (FDH). The other two patients with elevated free T4 without suppressed TSH were considered as having resistance of thyroid hormone (RTH), and analysis of thyroid hormone receptor (TR) beta gene confirmed the diagnosis. The remaining eight patients were diagnosed as having neonatal Graves' disease (NGD). Seven of eight pregnant women were treated with antithyroid drug and thus only one unrecognized NGD during pregnancy was detected by screening. Our screening system enables for early awareness of RTH and FDH. Regarding Graves' disease, the benefit of elevated free T4 screening is small, because most pregnant women with Graves' disease were managed. (Pediatr Res 66: 312-316, 2009)