期刊
GENETICS IN MEDICINE
卷 10, 期 12, 页码 851-868出版社
NATURE PUBLISHING GROUP
DOI: 10.1097/GIM.0b013e31818e55a2
关键词
cystic fibrosis; congenital absence of vas deferens; CFTR; diagnostic testing; genetic counseling
资金
- NHLBI NIH HHS [R21 HL079093-02, K08 HL067903, R21 HL079093, K08 HL067903-03, R21 HL079093-01, K08 HL067903-05, K08 HL067903-04] Funding Source: Medline
- NIAID NIH HHS [R01 AI067653, R01 AI067653-02, R01 AI067653-01A2] Funding Source: Medline
- NIDDK NIH HHS [R37 DK044003-19, R37 DK044003] Funding Source: Medline
Cystic fibrosis transmembrane conductance regulator-related disorders encompass a disease spectrum from focal male reproductive tract involvement in congenital absence of the vas deferens to multiorgan involvement in classic cystic fibrosis. The reproductive, gastrointestinal, and exocrine manifestations of cystic fibrosis transmembrane conductance regulator deficiency are correlated with CFTR genotype, whereas the respiratory manifestations that are the main cause of morbidity and mortality in cystic fibrosis are less predictable. Molecular genetic testing of CFTR has led to new diagnostic strategies and will enable targeting of molecular therapies now in development. Older diagnostic methods that measure sweat chloride and nasal potential difference nonetheless remain important because of their sensitivity and specificity. In addition, the measurement of immunoreactive trypsinogen and the genotyping of CFTR alleles are key to newborn screening programs because of low cost. The multiorgan nature of cystic fibrosis leads to a heavy burden of care, thus therapeutic regimens are tailored to the specific manifestations present in each patient. The variability of cystic fibrosis lung disease and the variable expressivity of mild CFTR alleles complicate genetic counseling for this autosomal recessive disorder. Widespread implementation of newborn screening programs among populations with significant cystic fibrosis mutation carrier frequencies is expected to result in increasing demands on genetic counseling resources. Genet Med 2008:.10(12):851-868.
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