ABCMdb

PMID: 16938751

Abdel Rahman H, Abdul Wahab A, Abdel Rahman MO, Mostafa OA
Faecal elastase-1 concentration in cystic fibrosis patients with CFTR I1234V mutation.
Acta Paediatr. 2006 Sep;95(9):1066-9., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Ile1234Val ABCC7 p.Ile1234Val Faecal elastase-1 concentration in cystic fibrosis patients with CFTR I1234V mutation H. ABDEL RAHMAN1 , A. ABDUL WAHAB1 , M. O. ABDEL RAHMAN2 & OSSAMA ABDEL RAHMAN MOSTAFA3 Departments of 1 Paediatrics and Biochemistry, 2 Hamad Medical Corporation, Doha, Qatar, and 3 Beni Suef Faculty of Medicine, Beni Suef, Egypt Abstract Aim: To assess the exocrine pancreatic function among cystic fibrosis patients with cystic fibrosis trans-membrane conductance regulator (CFTR) I1234V mutation. Login to comment 1 ABCC7 p.Ile1234Val Methods: Cross-sectional study of 40 cystic fibrosis patients with homozygous CFTR I1234V mutation belonging to a large Arab kindred family and 25 healthy subjects as a control group over a period of 12 mo. Login to comment 4 ABCC7 p.Ile1234Val Results: All CF patients with CFTR I1234V mutation had normal levels of faecal elastase 1. Login to comment 6 ABCC7 p.Ile1234Val Conclusion: Cystic fibrosis with homozygous CFTR I1234V mutation is associated with pancreatic sufficiency. Login to comment 8 ABCC7 p.Ile1234Val Key Words: Cystic fibrosis, CFTR mutation I1234V, faecal elastase, pancreatic function Introduction Cystic fibrosis (CF) is an inherited disorder, caused by mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Login to comment 20 ABCC7 p.Ile1234Val CFTR I1234V mutation is one of the common mutations among Arabs in the Gulf region, and yet the exocrine pancreatic function has not been studied objectively [10,11]. Login to comment 21 ABCC7 p.Ile1234Val The purpose of our study was to assess exocrine pancreatic function among cystic fibrosis patients with CFTR I1234V mutation by measuring faecal pancreatic elastase-1 activity. Login to comment 25 ABCC7 p.Ile1234Val E-mail: atiqa@qatar.net.qa/atiqaaw@yahoo.com/atiqa@hmc.org.qa Acta Pædiatrica, 2006; 95: 1066Á1069 Patients and methods Patients Forty CF patients with homozygous CFTR I1234V mutation were evaluated (22 males and 18 females belonging to a large Arab kindred family). Login to comment 56 ABCC7 p.Ile1234Val A thorough review of the literature proved that there were no previous studies that objectively evaluated pancreatic status with CFTR I1234V mutation [10,11]. Login to comment 58 ABCC7 p.Ile1234Val Moreover, the concentration of FE1 in healthy controls was not significantly different from that of CF patients, suggesting that CF patients with CFTR I1234V mutation have sufficient exocrine pancreatic function. Login to comment 63 ABCC7 p.Ile1234Val Our results revealed normal FE1 among CF patients, including those patients older than 15 y, suggesting that these CF patients with CFTR I1234V mutation are unlikely to have mild pancreatic insufficiency. Login to comment 76 ABCC7 p.Ile1234Val These patients had normal levels of faecal elastase, similar to those CF patients without pancreatic enzyme replacement, indicating that our CFTR I1234V mutation is a mild genotype mutation associated with pancreatic sufficiency. Login to comment 77 ABCC7 p.Ile1234Val In summary, CFTR I1234V mutation is associated with pancreatic sufficiency. Login to comment 78 ABCC7 p.Ile1234Val It is therefore recommended that pancreatic replacement therapy not be supplemented in cases of cystic fibrosis with CFTR I1234V mutation. Login to comment