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一个家族中4名成员甲状腺素结合蛋白的遗传性缺陷(作者译)

[Genetic deficiency of thyroxin-binding protein in 4 members of a family (author's transl)].

作者信息

Levrat R, Dano P, Joliot A Y, Dechaud H, Durand D V

出版信息

Nouv Presse Med. 1980 Oct 18;9(38):2811-3.

PMID:6160453
Abstract

Four members of the same family (2 male and 2 female) with normal thyroid function were found to have decreased total T3 and total T4, elevated response to the T3 test and low free thyroxin index. Such biological changes result from a deficiency in carrier protein and should be distinguished from nearly similar abnormalities observed in low T3 syndrome and hypothyroidism. Whilst gonosomal transmission through the X chromosome of thyroxin-binding protein deficiency seems well established, our findings show that another mechanism, i.e. dominant autosomal heredity, is practically certain.

摘要

同一个家庭的四名成员(2名男性和2名女性)甲状腺功能正常,但总T3和总T4降低,T3试验反应升高,游离甲状腺素指数低。这些生物学变化是由于载体蛋白缺乏所致,应与低T3综合征和甲状腺功能减退中观察到的几乎相似的异常情况相区分。虽然甲状腺素结合蛋白缺乏通过X染色体的性染色体传递似乎已得到充分证实,但我们的研究结果表明,另一种机制,即常染色体显性遗传,几乎可以确定。

相似文献

1
[Genetic deficiency of thyroxin-binding protein in 4 members of a family (author's transl)].一个家族中4名成员甲状腺素结合蛋白的遗传性缺陷(作者译)
Nouv Presse Med. 1980 Oct 18;9(38):2811-3.
2
[Two cases of familial thyroxine-binding globulin (TBG) deficit identified by the screening of neonatal hypothyroidism (author's transl)].通过新生儿甲状腺功能减退筛查发现的两例家族性甲状腺素结合球蛋白(TBG)缺乏症(作者译)
Pediatr Med Chir. 1981 Mar-Jun;3(2-3):239-42.
3
[Misinterpretation of thyroid function caused by alteration in thyroxine binding globulin concentration (author's transl)].
Monatsschr Kinderheilkd. 1981 Jun;129(6):367-9.
4
[Congenital deficiency of thyroxin-binding globulin (TBG)].[甲状腺素结合球蛋白(TBG)先天性缺乏]
Ugeskr Laeger. 1984 Dec 17;146(51):4022-4.
5
Value of the determination of "true' free thyroxine in screening the newborn with possible congenital TBG-deficiency for congenital hypothyroidism.
Ann Clin Biochem. 1981 Nov;18(Pt 6):361-3. doi: 10.1177/000456328101800607.
6
[Infants with low-TBG detected in a screening program for neonatal hypothyroidism (author's transl)].
Horumon To Rinsho. 1981 Mar;29(3):305-10.
7
[A case of absence of thyroxin binding globulin].[一例甲状腺素结合球蛋白缺乏症]
Rev Med Liege. 1980 Apr 1;35(7):219-20.
8
[TBG abnormality and free thyroxine (author's transl)].甲状腺结合球蛋白异常与游离甲状腺素(作者译)
Horumon To Rinsho. 1982 Feb;30(2):149-55.
9
[Hypo-TBG-emia detected by screening for congenital hypothyroidism (author's transl)].
Horumon To Rinsho. 1981 Mar;29(3):311-2.
10
The free T3 index in familial TBG deficiency.家族性甲状腺素结合球蛋白缺乏症中的游离T3指数。
Clin Chim Acta. 1982 Jan 5;118(1):121-3. doi: 10.1016/0009-8981(82)90233-9.