A case of familial dysalbuminemic hyperthyroxinemia (FDH) in Japan: FDH as a possible differential diagnosis of syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH).
A case of familial dysalbuminemic hyperthyroxinemia (FDH) in Japan: FDH as a possible differential diagnosis of syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH).
复制标题
日本家族性白蛋白异常性高甲状腺素血症（FDH）一例：FDH 可能是促甲状腺激素分泌不当综合征（SITSH）的鉴别诊断。
作者：
Sakiko Kobayashi;J. Yoshimura Noh;Taeko Shimizu;Tomoaki Sato;I. Kurihara;K. Sugino;H. Itoh;Koichi Ito
家族性白蛋白异常性高甲状腺素血症（FDH）是一种常染色体显性遗传疾病，是高加索人最常见的遗传性甲状腺功能正常性高甲状腺素血症。然而，这在亚洲人群中非常罕见。一位30岁的日本女性，偶然发现有明显的甲状腺功能障碍，于2004年入住我院。她的血清游离甲状腺素（FT 4）极高，游离三碘甲状腺原氨酸（FT 3）中度升高，促甲状腺激素（TSH）正常。临床甲状腺检查显示，除小甲状腺肿外，无其他异常。抗甲状腺球蛋白抗体滴度为阳性，但其他抗甲状腺抗体（包括抗甲状腺过氧化物酶抗体、TSH受体抗体和甲状腺刺激抗体）滴度为阴性。当通过三种不同的实验室试剂盒测量时，FT 3、FT 4和TSH水平相似，当通过平衡透析测量时，FT 4仍然很高。通过亲和层析，FT 4、TT 4和白蛋白被提取到同一级分，并且FT 4和TT 4的水平非常高。采用反相液相色谱-质谱联用技术，测定了人血清白蛋白的氨基酸序列。患者被发现是人血清白蛋白基因中p.R218P突变的杂合子，并被诊断为FDH。该患者白蛋白基因中携带p.R218P突变，是日本第5例FDH病例报告。这种情况的特点是极高的血清FT 4和中等高的血清FT 3水平。虽然罕见，FDH应考虑在鉴别诊断综合征的TSH分泌不当（SITSH）在日本。
Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition and is the most commonly inherited euthyroid hyperthyroxinemia in Caucasians. However, it is extremely rare in Asian populations. A 30-year-old Japanese woman, who was incidentally found to have apparent thyroid dysfunction, was admitted to our hospital in 2004. She had extremely elevated serum free thyroxine (FT4), moderately elevated free triiodothyronine (FT3), and normal thyroid-stimulating hormone (TSH). Clinical thyroid examination revealed no abnormalities other than small goiter. Anti-thyroglobulin antibody titer was positive, but titers of other anti-thyroid antibodies, including antithyroid peroxidase antibody, TSH receptor antibodies, and thyroid-stimulating antibody, were negative. Levels of FT3, FT4, and TSH were similar when measured by three different laboratory kits, and FT4 was still high when measured by equilibrium dialysis. By affinity chromatography, FT4, TT4, and albumin were extracted to the same fraction, and the levels of FT4 and TT4 were extremely high. By combination of reversed phase liquid chromatography and mass spectrometry techniques, the amino acid sequence of human serum albumin was determined. The patient was found to be a heterozygote for p.R218P mutation in the gene for human serum albumin and was diagnosed as FDH. This patient, who harbored the p.R218P mutation in the albumin gene, is the fifth case report of FDH in Japan. This condition is characterized by extremely high serum FT4 and moderately high serum FT3 levels. Although rare, FDH should be considered in the differential diagnosis for syndrome of inappropriate secretion of TSH (SITSH) in Japan.
一个瑞士家庭中由突变白蛋白 (R218P) 引起的家族性白蛋白异常性高甲状腺素血症显示血清浓度和甲状腺素亲和力之间存在明显差异。
DOI：
10.1210/jcem.85.8.6746
发表时间：
2000
期刊：
The Journal of clinical endocrinology and metabolism.
影响因子：
--
作者：
Pannain,S;Feldman,M;Eiholzer,U;Weiss,RE;Scherberg,NH;Refetoff,S
通讯作者：
Refetoff,S