ABCMdb

PMID: 9917235

Ren CL
Mutations of the cystic fibrosis gene and pancreatitis.
N Engl J Med. 1999 Jan 21;340(3):238-9., 1999-01-21 [PubMed]

Sentences

No. Mutations Sentence Comment

217 ABCC7 p.Ala455Glu If CFTR mutations affect the sweat ducts, the function of CFTR in the lung will also be affected.4 The DF508/A455E genotype in particular is associated with elevated sweat chloride concentrations and delayed onset of pulmonary disease4 ; Sharer et al. did not screen for this mutation. Login to comment 231 ABCC7 p.Ala455Glu An abnormal nasal potential difference is arguably a more reliable demonstrator of CFTR function than sweat testing,2 and indeed, patients with the 3849+10Kb (C→T) mutation may have normal sweat chloride concentrations but abnormal nasal-potential-difference properties.3 We did not test for the A455E mutation, since it does not seem to occur in our population.4 This mutation is associated with mild pulmonary disease, pancreatic sufficiency, and as far as we are aware, normal glucose tolerance.5 In our study, Patients 9 and 15 both had pancreatic insufficiency, with the latter also having insulin-dependent diabetes mellitus. Login to comment 246 ABCC7 p.Arg117His His sweat chloride and base-line potential-difference values were normal, and he had one mutation that causes cystic fibrosis (DF508, 9T) and one mutation that ordinarily does not (R117H, 7T).1,2 None of these findings establish a firm diagnosis of cystic fibrosis. Login to comment