ABCMdb

PMID: 17575549

Dray X, Fajac I, Bienvenu T, Chryssostalis A, Sogni P, Hubert D
Association of pancreas divisum and recurrent acute pancreatitis with the IVS8-5T-12TG allele of the CFTR gene and CFTR dysfunction.
Pancreas. 2007 Jul;35(1):90-3., [PubMed]

Sentences

No. Mutations Sentence Comment

34 ABCC7 p.Arg31Cys Genetic testing showed no mutation in the cationic trypsinogen gene and found the R31C and IVS8-5T-12TG variants in the CFTR gene. Login to comment 65 ABCC7 p.Arg31Cys ABCC7 p.Arg31Cys Sweat Chloride Concentrations, NPD, Respiratory Function, and CFTR mutations Test Patient 1 Patient 2 Sweat chloride concentration (mM) Test 1 11 48 Test 2 11 81 NPD (mV) Basal j21 j16 $Amil 9 3 $Clj /Amil j7 j1 $Iso/Clj 0 2 Respiratory function FVC (% pred.) 118 84 FEV1 (% pred.) 115 86 FEF25-75 (% pred.) 100 114 PaO2 (mm Hg) 104 101 PaCO2 (mm Hg) 32 39 CFTR mutations Patient R31C F508del IVS8-5T-12TG IVS8-5T-12TG Father IVS8-5T-12TG Not done IVS8-9T-10TG Mother R31C IVS8-5T-11TG IVS8-7T-11TG IVS8-5T-12TG $Amil (mV) indicates the response to superfusion with 10j4 M amiloride, a blocker of epithelial sodium channel; $Clj /Amil (mV), change in NPD after a perfusion of a low-chloride solution; FVC, forced vital capacity; FEF25-75, forced midexpiratory flow rate; FEV1, forced expiratory volume in 1 second; $Iso/Clj (mV), response to the A-adrenergic agonist isoproterenol (10j5 M) added to the low-chloride solution containing amiloride; PaO2, arterial oxygen tension at rest; PaCO2, arterial carbon dioxide tension at rest; % pred., percentage of predicted value. Login to comment