ABCMdb

PMID: 20846557

Sutton JM, Schmulewitz N, Sussman JJ, Smith M, Kurland JE, Brunner JE, Salehi M, Choe KA, Ahmad SA
Total pancreatectomy and islet cell autotransplantation as a means of treating patients with genetically linked pancreatitis.
Surgery. 2010 Oct;148(4):676-85; discussion 685-6., [PubMed]

Sentences

No. Mutations Sentence Comment

117 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Arg31Cys ABCC7 p.Arg297Gln ABCC7 p.Pro750Leu Patient demographics Descriptive statistics Data mean (SEM) Range Age, y 32 (3) 15-59 Weight, kg 73 (6) 39-127 Body mass index, kg/m2 24 (2) 15-35 Chronic pancreatitis, y 14 (2) 3-47 Sex Male, n = 8 Female, n = 8 Previous pancreatic operations Puestow, n =3 Whipple, n = 3 Genetic mutations and loci, n (%) CFTR 10 (62.5) R297Q 2 DF508 + R117H 1 R553X + M470V 1 DF508 1 R117H 1 P750L 1 D1152H 1 R31C 1 S1235R 1 PRSS1 4 (25) R122H 3 Unknown* 1 SPINK1 2 (12.5) N34S 2 *One patient was identified as having a PRSS1 mutation, but the specific locus mutation was unknown at the time of publication. Login to comment 181 ABCC7 p.Arg117His ABCC7 p.Arg297Gln Among these patients, 9 separate mutations were discovered, the most common of which were DF508, R297Q, and R117H. Login to comment