ABCMdb

PMID: 21499205

Lucidi V, Alghisi F, Dall'Oglio L, D'Apice MR, Monti L, De Angelis P, Gambardella S, Angioni A, Novelli G
The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians.
Pancreas. 2011 May;40(4):517-21., [PubMed]

Sentences

No. Mutations Sentence Comment

46 ABCC7 p.Trp1282* ABCC7 p.Ile148Thr ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Phe1052Val ABCC7 p.Arg31Cys ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe ABCC7 p.Leu967Ser Genetic Findings Observed in Our Study Population and Related Clinical Features CFTR PRSS1 SPINK1 Clinical CharacteristicsMutations IVS8 F508del/UN 9T/9T S181G/- NEG No respiratory symptoms 3849+10KbC9T/UN 7T/7T NEG NEG No respiratory symptoms UN/UN 7T/7T NEG N34S/- UN/UN 5T/7T NEG NEG No respiratory symptoms 1899-136T/C/UN 5T/7T NEG NEG No respiratory symptoms F508del/UN 5T/9T NEG NEG No respiratory symptoms D1152H/D1152H NEG NEG No respiratory symptoms R75Q/UN 5T/7T NEG NEG No respiratory symptoms L997F/UN 7T/9T NEG NEG No respiratory symptoms UN/UN 7T/7T NEG N34S/- W1282X/I148T 7T/9T NEG NEG No respiratory symptoms NEG N34S/- R75Q/F1052V NEG NEG No respiratory symptoms F508del/D1152H NEG NEG Bronchiectasis-CF 406-6T/C/E528E 7T/7T NEG NEG No respiratory symptoms F508del/UN 7T/9T Mild respiratory symptomsYCF L967S/L997F NEG NEG No respiratory symptoms E528E/UN 5T/7T Crohn disease, food allergy 1716 G/A/UN 7T/7T NEG NEG No respiratory symptoms 1898+1G9A/UN 7T/7T No respiratory symptoms R31C/UN No respiratory symptoms R75Q/UN 7T/7T NEG NEG No respiratory symptoms N29T;V212I; D217Y NEG F508del/UN 7T/9T NEG NEG Pancreas divisum S1235R/UN 7T/9T NEG NEG Duodenal stenosis Entries in bold font undelines the detection of mutations or polymorphisms in the studied genes. Login to comment 77 ABCC7 p.Asp1152His The second one had a borderline sweat test and 2 CFTR gene mutations, F508del/D1152H; this patient was diagnosed as having CF when he developed bronchiectasis, 5 years after the diagnosis of ARP. Login to comment 78 ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His In another patient, we identified 2 CFTR mutations (D1152H/D1152H), a positive familial history for CP and CF, a negative sweat test, and no lung involvement, to date, at 24 years old, but a diagnosis of CF for this patient is unlikely.17,18 The D1152H mutation, as the most CFTR mutations, has not been clearly shown to be a CF-causing mutation; it shows a wide phenotypic variability,19,20 confirming that the genetic mechanisms are more complex than our current knowledge. Login to comment