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

Flepp, Markus
Wolf, Katja
Furrer, Hansjakob
Battegay, Manuel
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Published in AIDS. 2004, vol. 18, no. 11, p. 1521-1527
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 DiseaseAdultAmylases/bloodCarrier Proteins/ geneticsCase-Control StudiesCystic Fibrosis Transmembrane Conductance Regulator/ geneticsFemaleHIV Infections/enzymology/ geneticsHumansMaleMutation/ geneticsPancreatitis/enzymology/ virologyPolymorphism, GeneticRisk Factors
PMID: 15238770
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FELLEY, Christian et al. The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. In: AIDS, 2004, vol. 18, n° 11, p. 1521-1527. doi: 10.1097/00002030-200409240-00019 https://archive-ouverte.unige.ch/unige:7208

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Deposited on : 2010-06-21

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