ABCMdb

PMID: 11802254

Crowley S, Bush A
Cystic fibrosis: keeping it in the family.
Pediatr Pulmonol. 2002 Feb;33(2):158-61., [PubMed]

Sentences

No. Mutations Sentence Comment

78 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His Some argue, however, that R117H/7T does not meet the criteria for a CF mutation.2 The North American Consensus Statement accepts that R117H/5T is CF disease-producing, but states that a diagnosis of CF in patients carrying R117H/ 7T requires the demonstration of a CFTR abnormality by sweat testing or nasal potential difference testing. Login to comment 79 ABCC7 p.Arg117His Determination of the R117H haplotype (i.e., 5T or 7T) may therefore prove to be the most accurate risk estimate of whether an individual carries a mutant CF allele.14 It would be of interest to measure the TEPD responses to amiloride and low chloride/isoprenaline in both parents to obtain further evidence of CFTR dysfunction, but this was not available. Login to comment 86 ABCC7 p.Arg117His Parents can be informed that possession of the R117H mutation is likely to be associated with mild pulmonary disease and pancreatic suf®ciency.10,15 While pancreatic insuf®ciency is likely in more than 99% of patients homozygous for DF508,16 it is not possible to make any prediction about the severity of their lung disease.15 Third, the diagnosis in the parents will have implications for life insurance, even though their prognosis is likely to be good. Login to comment