ABCMdb

PMID: 18360295

Segal I, Yaakov Y, Adler SN, Blau H, Broide E, Santo M, Yahav Y, Klar A, Lerner A, Aviram M, Ellis I, Mountford R, Shteyer E, Kerem E, Wilschanski M
Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis.
J Clin Gastroenterol. 2008 Aug;42(7):810-4., [PubMed]

Sentences

No. Mutations Sentence Comment

13 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asp1152His Mutation analysis revealed W1282X/5T, D1152H/5T, and W1282X/ À in 3 patients with abnormal NPD and 1 W1282X allele was found in 1 patient with normal NPD. Login to comment 71 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asp1152His One patient in the normal PD group was found to be heterozygous for the W1282X mutation, whereas 3 of the 7 patients in the pathologic PD group were found to have mutations in the CFTR gene: 1 patient was compound heterozygous W1282X/5T, 1 patient heterozygous for W1282X, and another patient with compound heterozygous D1152H/5T (Table 3). Login to comment 79 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asp1152His Demographics, Clinical, and Laboratory Data of 33 Patients With Recurrent Acute Pancreatitis Mean age 20 ± 12 years (range: 7-49) Sex 15 females, 18 males Symptoms 27: recurrent pancreatitis 3: recurrent pancreatitis+mild asthma 1: recurrent pancreatitis+ulcerative disease 1: recurrent pancreatitis+infertility 1: recurrent 1: recurrent pancreatitis+polycystic kidneys Mean sweat chloride 41 ± 14 mmol/L (range: 18-64) CFTR mutations 2: W1282X/ À 1: W1282X/5T 1: D1152H/5T TABLE 2. Summary of NPD Measurements Normal PD Abnormal PD Patients no. Login to comment 90 ABCC7 p.Trp1282* In our study, we found 2 patients heterozygous for CF mutations, and 2 more patients with carriage of mild mutations and 5T allele (W1282X 3/33: 9%; D 1152H 1/33: 3%, 5T 2/33: 6%). Login to comment 92 ABCC7 p.Trp1282* ABCC7 p.Asp1152His The reported prevalence of these mutations in the CF Israeli Jewish population is W1282X 46.3%, and D1152H 5.3%.22 We confirm the findings of Bishop et al10 that ion transport studies correlates with the number and severity of CFTR mutations. Login to comment 99 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asp1152His Sex Age (y) CFTR Genotype Sweat Chloride (mmol/L) NPD DClÀ free+iso (mV) Exp (DClÀ free+iso/DAmil) 1 M 40 W1282X/ À 60 1 1.09 2 M 9 W1282X/5T 44 0 1 3 F 15 À / À 43 À 4 0.83 4 F 14 À / À 45 À 9 0.81 5 F 10.5 À / À 27 À 1 0.96 6 F 7 À / À 61 2 1.09 7 M 34 D1152H/5T 30 4 2.72 0 0.7 1.4 2.1 2.8 3.5 ΔΔ FIGURE 2. Login to comment