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囊性纤维化

CYSTIC FIBROSIS.

作者信息

ASAY L D

出版信息

Calif Med. 1965 Apr;102(4):292-300.

PMID:14288148
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1515750/
Abstract

Cystic fibrosis, a disease thought to be transmitted as a recessive genetic trait, is found as a disease in about one in 1,000 to one in 10,000 births. It involves all of the exocrine glands with presenting symptoms dependent upon the extent of involvement of any group of glands. Many aspects of the disease can be corrected by substitution therapy. This applies particularly to the use of animal pancreas for the steatorrhea and salt for prevention of heat prostration. Unfortunately, the obstructive pulmonary disease with secondary bronchial infections can only be treated symptomatically by the use of mucus thinning agents, postural drainage, and antibiotics. Nevertheless, longevity can be increased and a great deal of hope offered to the families of these unfortunate children by careful supervision of their medical care.

摘要

囊性纤维化是一种被认为以隐性遗传特征传播的疾病,在大约每1000至10000例出生中就有1例出现。它累及所有外分泌腺,出现的症状取决于任何一组腺体的受累程度。该疾病的许多方面可以通过替代疗法得到纠正。这尤其适用于使用动物胰腺治疗脂肪泻以及使用盐分预防中暑。不幸的是,伴有继发性支气管感染的阻塞性肺部疾病只能通过使用黏液稀释剂、体位引流和抗生素进行对症治疗。尽管如此,通过对这些不幸儿童的医疗护理进行仔细监督,可以延长他们的寿命,并给他们的家庭带来很大希望。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88db/1515750/0ded43c25aaf/califmed00070-0038-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88db/1515750/22fa1ebccad7/califmed00070-0038-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88db/1515750/0ded43c25aaf/califmed00070-0038-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88db/1515750/22fa1ebccad7/califmed00070-0038-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88db/1515750/0ded43c25aaf/califmed00070-0038-b.jpg

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A disorder clinically resembling cystic fibrosis caused by biallelic variants in the gene.一种由该基因双等位基因变异引起的临床上类似囊性纤维化的病症。
J Med Genet. 2022 Oct;59(10):993-1001. doi: 10.1136/jmedgenet-2021-108150. Epub 2021 Dec 24.

本文引用的文献

1
Heredity of fibrosis of the pancreas; possible mutation rate of the gene.胰腺纤维化的遗传;基因可能的突变率。
Am J Hum Genet. 1952 Jun;4(2):59-71.
2
FECAL RETENTION IN CHILDREN WITH CYSTIC FIBROSIS. REPORT OF THREE CASES.囊性纤维化患儿的粪便潴留。三例报告。
Pediatrics. 1964 Jul;34:72-7.
3
THE USE OF N-ACETYLCYSTEINE IN THE TREATMENT OF CYSTIC FIBROSIS.N-乙酰半胱氨酸在囊性纤维化治疗中的应用。
South Med J. 1963 Nov;56:1271-8. doi: 10.1097/00007611-196311000-00016.
4
The effect of N-acetylcysteine on the viscosity of tracheobronchial secretions in cystic fibrosis of the pancreas.N-乙酰半胱氨酸对胰腺囊性纤维化患者气管支气管分泌物黏稠度的影响。
J Pediatr. 1963 Jan;62:31-5. doi: 10.1016/s0022-3476(63)80067-0.
5
The celiac syndrome (malabsorption) in pediatrics; classification, differential diagnosis, principles of dietary management.小儿乳糜泻综合征(吸收不良);分类、鉴别诊断及饮食管理原则
JAMA. 1962 Apr 28;180:308-16.
6
Bronchial obstruction in cystic fibrosis: rheological factors.囊性纤维化中的支气管阻塞:流变学因素
Pediatrics. 1960 Apr;25:611-20.
7
Intestinal atresia or stenosis in the newborn associated with fibrocystic disease of the pancreas.新生儿肠道闭锁或狭窄与胰腺纤维囊性疾病相关。
Calif Med. 1961 Mar;94(3):165-70.
8
'Sweat test' results in normal persons of different ages compared with families with fibrocystic disease of the pancreas.与胰腺纤维囊性病家族相比,不同年龄正常人的“汗液试验”结果。
Arch Dis Child. 1960 Dec;35(184):581-7. doi: 10.1136/adc.35.184.581.
9
Saliva, tears and duodenal contents in cystic fibrosis of the pancreas.胰腺囊性纤维化患者的唾液、泪液及十二指肠内容物。
Pediatrics. 1958 Sep;22(3):507-14.
10
Studies in cystic fibrosis of the pancreas; occurrence of rectal prolapse.胰腺囊性纤维化的研究;直肠脱垂的发生率。
N Engl J Med. 1958 Aug 28;259(9):409-12. doi: 10.1056/NEJM195808282590901.