ABCMdb

PMID: 15772171

De Boeck K, Weren M, Proesmans M, Kerem E
Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype.
Pediatrics. 2005 Apr;115(4):e463-9. Epub 2005 Mar 16., [PubMed]

Sentences

No. Mutations Sentence Comment

133 ABCC7 p.Ile1005Arg One patient demonstrated F508del/I1005R. Login to comment 134 ABCC7 p.Ile1005Arg The I1005R mutation is reported with severe pulmonary disease but mild pancreatic disease. Login to comment 136 ABCC7 p.Ala455Glu ABCC7 p.Asp1152His ABCC7 p.Arg1066His ABCC7 p.Ser13Phe Class IV and V mutations reported among the patients with PI included D1152H (n ϭ 2), A455E (n ϭ 2), R1066H (n ϭ 1), S13F (n ϭ 1), and 1898ϩ3AϾG (n ϭ 1). Login to comment 171 ABCC7 p.Arg347Pro ABCC7 p.Ile1005Arg ABCC7 p.Ser945Leu ABCC7 p.Gln890* Mutations Found Among Patients With CF and Pancreatitis PS PI PI after PS Not classified 3849ϩ10-kbCϾT*/F508del† (3) F508del†/F508del† F508del†/2789ϩ5GϾA† F508del†/3849ϩ10-kbCϾT* 3849ϩ10-kbCϾT*/W1282X† F508del†/I336K† F508del†/G628RϩGϾA† F508del†/unknown D1152H*/F508del† (2) F508del†/2789ϩ5GϾA† W1282X†/G85E† F508del†/S945L D1152H*/W1282X† G551D†/N1303K† F508del†/R117H*ϩ7T Unknown/unknown R334W*/F508del† (2) I507del†/G1069R† F508del†/3849ϩ10-kbCϾT* R334W*/G542X† F508del†/D1152H* (2) F508del†/R347P R334W*/Q890X F508del†/A455E* R1162X†/R334W* R117H*ϩ7T/L997F†ϩ7T F508del†/R1066H* R347H*/2118del4 R117H*/F508del† F508del†/S13F* P205S*/G542X† F508del†/1898ϩ3AϾG* D1270NϩR74W*/I507del† Y1092X†/A455E* R352Q*/1812-1GϾA F508del†/I1005R L206W*/F508del† G542X†/unknown 5T*/W1282X† Refused testing 5T*/F508del† 5T*/7T* 7T*/F508del† 2789ϩ5GϾA†/unknown W1282X†/unknown (3) F508del†/unknown (6) F508del†/V232D† 2789ϩ5GϾA†/N1303K† 2347delG†/1341GϾA† Patients are grouped according to pancreatic status. Login to comment 178 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Two patients carried A455E/F508 and 2 carried A455E/621ϩ1GϾT. Munck27 reported acute pancreatitis as a presenting symptom during heat stroke for 3 patients with CF; 1 patient had PS and a fecal elastase level of 500 ␮g/g feces, and the others had moderate PI and stool elastase levels of 102 and 162 ␮g/g. Login to comment 187 ABCC7 p.Ser1251Asn S1251N is normally associated with PI3 but was included in the report by Durno et al13 as being associated with PS. Login to comment 188 ABCC7 p.Ala455Glu ABCC7 p.Gly85Glu A455E, the Dutch mutation, is considered a class IV mutation but 50% to 75% of patients were reported to have PI.26 G85E, the Mediterranean mutation, was reported by Durno et al13 with PS, but it is actually a class II mutation with some variability in pancreatic function.28 In the present study, well-accepted methods of stool analysis (fat loss of Ͼ7 g/day or elastase levels of Ͻ200 ␮g/g stool) were chosen to determine pancreatic status as PS or PI. Login to comment