|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a child with a novel genetic/metabolic form of ARP associated with compound heterozygous SPINK1/AP2S1 (adaptor protein-2 σ1-subunit) mutations, recurrence of which was completely abrogated for 6 years by cinacalcet treatment.
|
31391146 |
2019 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SPINK1 mutation(s) was significantly associated with faster progression to ARP, (p = 0.04).
|
31088717 |
2019 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SPINK1 c.194+2T>C mutation had a higher occurrence in juvenile ICP patients than in adult group and typically presented with recurrent acute pancreatitis.
|
28348582 |
2017 |
|
Acute recurrent pancreatitis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations, especially those in PRSS1, SPINK1, and CFTR, accounted for the major etiologies in Chinese children with CP or ARP.
|
29173301 |
2017 |
|
Acute recurrent pancreatitis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Children with PRSS1 or SPINK1 mutations were more likely to present with CP compared with ARP (PRSS1: OR = 4.20; 95% CI, 2.14-8.22; P < .001; and SPINK1: OR = 2.30; 95% CI, 1.03-5.13; P = .04).
|
27064572 |
2016 |
|
Acute recurrent pancreatitis
|
0.400 |
GermlineModifyingMutation
|
disease |
ORPHANET |
Genetic and electrophysiological characteristics of recurrent acute pancreatitis.
|
25383785 |
2015 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We studied 183 unrelated patients with AP and RAP and 168 healthy controls for p.N34S variant in SPINK1 gene using sequencing of genomic DNA.
|
24844923 |
2014 |
|
Acute recurrent pancreatitis
|
0.400 |
GermlineModifyingMutation
|
disease |
ORPHANET |
CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients.
|
25003218 |
2014 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing results indicated the presence of two previously unidentified mutations in exon 2 of PRSS1 (V39E and N42S) in two patients with recurrent acute pancreatitis.Two cases had the N34S SPINK1 mutation.
|
25206283 |
2014 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The SPINK1 variant p.N34S is overrepresented in patients with acute pancreatitis, but more studies distinguishing between first-time and recurrent acute pancreatitis have to be done to determine whether this is only true for patients with recurrent acute pancreatitis.
|
22228370 |
2012 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies have shown an association between SPINK1 gene variants and chronic pancreatitis or recurrent acute pancreatitis.
|
22526274 |
2012 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Studies are needed to ascertain the genetic causes of RAP and CP and examine the relation between single CFTR mutations and single mutations in the PRSS1 and SPINK1 genes.
|
22094894 |
2012 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The frequencies of the PRSS1 and SPINK1 mutations are relatively high in Korean children with ARP or CP.
|
21415673 |
2011 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the association of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) gene mutations and monocyte chemoattractant protein 1 (MCP-1) -2518A/G polymorphism with acute pancreatitis (AP), acute recurrent pancreatitis (ARP), and chronic pancreatitis (CP), and to associate genetic backgrounds with clinical phenotype in these three conditions.
|
19844201 |
2010 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event.
|
19888199 |
2010 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The frequency of SPINK1 mutation was similar among patients with pancreas divisum and pancreatitis (41.6%), chronic pancreatitis (43.3%), and recurrent acute pancreatitis without pancreas divisum (35.7%).
|
19593166 |
2009 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768).
|
16954950 |
2006 |