Biochemical and molecular genetics of cystic fibrosis.
Biochemical and molecular genetics of cystic fibrosis.
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DOI：
10.1007/978-1-4684-5958-6_4
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发表时间：
1991
影响因子：
--
通讯作者：
L. Tsui;M. Buchwald
中科院分区：
文献类型：
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作者：
L. Tsui;M. Buchwald
囊性纤维化（CF）是高加索人群中最常见的严重隐性遗传病。1938年，D. H.安德森提供了第一个全面描述的疾病，也介绍了名称“囊性纤维化的胰腺。”患有CF的患者遭受过多的粘液积聚，导致呼吸道、胃肠道和泌尿生殖道中的严重临床后果（见表I）。所有这些症状都与S.法伯于1945年将这种疾病称为“粘黏菌病”，这个名字在欧洲大陆的一些地区仍然很流行。CF患者的汗液中电解质水平也升高，这一观察结果首先由di Sant'Agneseetal描述。（1953），成为CF诊断的标志。
Cystic fibrosis (CF) is the most common severe recessive genetic disorder in the Caucasian population. In 1938, D. H. Anderson provided the first comprehensive description of the disease and also introduced the name “cystic fibrosis of the pancreas.” Patients with CF suffer from excessive mucus accumulation resulting in severe clinical consequences in the respiratory, gastrointestinal, and genitourinary tracts (see Table I). All these symptoms are consistent with defects of exocrine glands, as suggested by S. Farber in 1945; he called the disease “mucoviscidosis,” a name still popular in some parts of continental Europe. CF patients also have elevated electrolyte levels in their sweat, an observation which, first described by di Sant’Agneseetal. (1953), became the hallmark for CF diagnosis.