The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study

Details

Serval ID
serval:BIB_E48E7F3DFCD0
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study
Journal
AIDS
Author(s)
Felley  C., Morris  M. A., Wonkam  A., Hirschel  B., Flepp  M., Wolf  K., Furrer  H., Battegay  M., Bernasconi  E., Telenti  A., Frossard  J. L.
ISSN
0269-9370 (Print)
Publication state
Published
Issued date
07/2004
Volume
18
Number
11
Pages
1521-7
Notes
Journal Article --- Old month value: Jul 23
Abstract
OBJECTIVE: Pancreatic disorders in HIV-positive patients are frequent. CFTR and SPINK-1 mutations have been reported to increase the risk of pancreatitis, but no data are available in HIV-positive patients. This study will evaluate the frequency of CFTR mutations and SPINK-1 polymorphisms in HIV-positive patients with clinical pancreatitis or asymptomatic elevation of serum pancreatic enzymes. METHOD: Cases (patients with hyperamylasemia) were identified during a toxicity study conducted in August 1999 among 1152 participants of the Swiss HIV Cohort Study. We designed a case-control study in which each case was matched one to one to an HIV-infected control according to sex, age, CD4 cell count, viraemia and medication use. CFTR mutations and SPINK-1 polymorphisms were studied using polymerase chain reaction techniques. RESULTS: Fifty-one HIV-positive patients with hyperamylasemia were detected among 1152 participants in the toxicity study (4.4%). There were 13 carriers of CFTR and SPINK-1 mutations (12.7%). Amylase levels were 316 +/- 130 U/l for the group with mutations, and 135 +/- 18 U/l for non-carriers (P = 0.79). However, among patients with hyperamylasemia, those with CFTR or SPINK-1 mutations had 648 +/- 216 U/l amylase levels compared with 232 +/- 28 U/l for those without (P = 0.025). Ten patients had acute pancreatitis, four of whom had CFTR mutations or SPINK-1 polymorphisms (40%) compared with seven of the control patients (14%) (P = 0.01). CONCLUSION: CFTR mutations and SPINK-1 polymorphisms are frequent among HIV-positive patients suffering from acute pancreatitis. These mutations may increase the susceptibility to pancreatitis when exposed to environmental risk factors.
Keywords
Acute Disease Adult Amylases/blood Carrier Proteins/*genetics Case-Control Studies Cystic Fibrosis Transmembrane Conductance Regulator/*genetics Female HIV Infections/enzymology/*genetics Humans Male Mutation/*genetics Pancreatitis/enzymology/*virology Polymorphism, Genetic Risk Factors
Pubmed
Web of science
Create date
25/01/2008 16:58
Last modification date
20/08/2019 17:08
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