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Letter
Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity
  1. Sateesh Maddirevula1,
  2. Mohammed Abanemai2,
  3. Fowzan S Alkuraya1,3
  1. 1 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  2. 2 Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  3. 3 Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  1. Correspondence to Dr Fowzan S Alkuraya, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; falkuraya{at}kfshrc.edu.sa, alkuraya{at}outlook.com

https://doi.org/10.1136/gutjnl-2016-312374

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    We read with great interest the study by Brooke and colleagues, in which they revealed that a severe hereditary form of peptic ulcer disease known as ‘cryptogenic multifocal ulcerating stenosing enteritis’ is caused by homozygosity for a truncating mutation in PLA2G4A, causing complete loss of cytosolic phospholipase A2-α (cPLA(2)α).1 We describe below a family with a different truncating mutation to further delineate the PLA2G4A-related phenotype.

    The family consists of healthy first cousin parents and 8-year-old triplets, two of whom had been treated for severe peptic ulcer disease since they were 2 years of age. The initial presentation was in the form of abdominal pain, anaemia and blood in stools, and multiple gastric and duodenal ulcers were diagnosed by endoscopy at …

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    Footnotes

    • Contributors SM and FSA: collected and analysed data and wrote the manuscript. MA: collected and analysed data.

    • Funding King Abdulaziz City for Science and Technology grant 13-BIO1113-20 (FSA).

    • Competing interests None declared.

    • Patient consent Parental/guardian consent obtained.

    • Ethics approval KFSHRC IRB.

    • Provenance and peer review Not commissioned; internally peer reviewed.