Genetic and electrophysiological characteristics of recurrent acute pancreatitis.
OBJECTIVE
The aim was to present the workup of patients with acute recurrent pancreatitis (ARP) for genetic analysis and electrophysiological testing.


METHODS
Patients with ARP with unknown etiology were referred for genetic testing and evaluation of cystic fibrosis transmembrane conductor regulator (CFTR) function by nasal potential difference (NPD) testing.


RESULTS
A total of 67 patients were evaluated. The mean age was 23 ± 17 years (median 17.0 years, range 1.5-72 years); 90% were Jewish and 10% Arab. Ten (15%) patients carried PRSS1 gene mutation (K23R(7), R122H(2), and D21A(1)). One patient had K172E/- (chymotrypsin C [CTRC]) mutation, 1 had I42M (serine protease inhibitor Kazal type 1 [SPINK1])/V235I (CTRC) together with ΔF508/5T, 1 patient had R67H (SPINK1)/V235I (CTRC), and 1 patient had V235I (CTRC)/-. Ten of 67 (15%) patients submitted for CFTR gene testing carried mutations (ΔF508/L997F, ΔF508/5T(11TG), W1282/5T(12TG), W1282X/Y1014C, ΔF508/R31C, R117H/-, R117H/Y1014C, D1152H/-, 5T(11TG)/-, and L997F/-). Fifty-four (80%) patients underwent sweat testing. Of these, 5 had sweat chloride ≥60 mEq/L, and 22 patients had sweat chloride from 40 to 60 mEq/L. Of the 56 (83%) patients had nasal potential difference testing, 4 (6%) with abnormal results.


CONCLUSIONS
One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.
*Medical College of Wisconsin, Milwaukee †Hadassah Hebrew University Medical Center, Jerusalem ‡Meir Medical Center, Kfar-Saba §Souraski Medical Center, Tel-Aviv ||Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva ¶Assaf Harofe Medical Center, Tzrifin #Schneider Children's Medical Center, Petach-Tikva **Meyer Children's Medical Center, Haifa, Israel ††Beaujon Hospital, Clichy ‡‡CHU de Brest, Brest, France.
Steven
S
Werlin
Fred M
FM
Konikoff
Zamir
Z
Halpern
Olga
O
Barkay
Baruch
B
Yerushalmi
Efrat
E
Broide
Erwin
E
Santo
Raanan
R
Shamir
Ron
R
Shaoul
Eyal
E
Shteyer
Yasmin
Y
Yaakov
Michael
M
Cohen
Eitan
E
Kerem
Philippe
P
Ruszniewski
Emmanuelle
E
Masson
Claude
C
Ferec
Michael
M
Wilschanski
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D018912:Arabs / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002712:Chlorides / Q000032:analysis; D002918:Chymotrypsin / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism; D055724:Electrophysiological Phenomena; D005260:Female; D006801:Humans; D007223:Infant; D007557:Israel; D007585:Jews / Q000235:genetics; D008297:Male; D008564:Membrane Potentials; D008875:Middle Aged; D009666:Nose / Q000503:physiopathology*; D010195:Pancreatitis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology*; D012008:Recurrence; D020545:Respiratory Mucosa / Q000503:physiopathology*; D013542:Sweat / Q000737:chemistry; D014357:Trypsin / Q000235:genetics; D014359:Trypsin Inhibitor, Kazal Pancreatic; D055815:Young Adult
D002352:Carrier Proteins; D002712:Chlorides; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D002918:Chymotrypsin; C117569:chymotrypsin C; C489303:PRSS1 protein, human; D014357:Trypsin