GASTROINTESTINAL MANIFESTATIONS OF CF PATIENTS CARRYING THE Δ F5O8 MUTATION
| Autor: | B Kerem, L. C. Tsui, J Romunens, M Corey, H Levison, E Kerem, P D Durie |
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| Rok vydání: | 1990 |
| Předmět: | |
| Zdroj: | Pediatric Research. 27:542-542 |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-199005000-00101 |
| Popis: | The gene responsible for CF has been cloned. In the majority of CF patients a 3 base pair deletion resulLs in the loss of a phenylalanine residue at the 508 position (ΔF) of the putative gene. At least 7 other mutations are predicted, which may account for the variable clinical phenotypes. Our previous genetic analysis showed that patients with or without pancreatic function (PS and PI) possess different mutant alleles. We have further characterized the relationships between the CF gene mutations and various gastrointestinal manifestations in 261 CF patients (Table). The prevalence of the δF allele is ∼70%. In addition, regression analysis of FEV1 revealed significantly better lung function in PS patients with a single ΔF or no ΔF chromosome. MortaliLies within 9 years were PI patients with ΔF/ΔF (n=9) and ΔF/other (n=7). These data also suggest: (1) Phenotypic variations of intestinal, nutritional and pulmonary disease in CF correlate with the nature of mutations in the gene; (2) ΔF/ΔF confers a severe phenotype; (3) additional mild and severe mutations exist. |
| Databáze: | OpenAIRE |
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