Chronic Enteropathy Associated with SLCO2A1 Gene and Hereditary Fructose Intolerance: A Coincidence of Two Rare Diseases

dc.contributor.authorDonger, Utku
dc.contributor.authorWarasnhe, Khaled
dc.contributor.authorOzcay, Figen
dc.contributor.authorHaskologlu, Zehra Sule
dc.contributor.authorAydin, Halil Ibrahim
dc.contributor.authorCeylaner, Serdar
dc.contributor.orcIDhttps://orcid.org/0000-0002-5214-516Xen_US
dc.contributor.orcIDhttps://orcid.org/0000-0001-7994-4394en_US
dc.contributor.pubmedID36384942en_US
dc.contributor.researcherIDABG-5684-2020en_US
dc.contributor.researcherIDAHD-1839-2022en_US
dc.date.accessioned2023-09-27T11:00:49Z
dc.date.available2023-09-27T11:00:49Z
dc.date.issued2022
dc.description.abstractChronic enteropathy associated with SLCO2A1 gene (CEAS) is a rare disorder characterized by multiple small intestine ulcers. Patients with CEAS typically present with chronic anemia and gastrointestinal bleeding. Besides CEAS, SLCO2A1 mutations cause primary hypertrophic osteoarthropathy (PHO) which is considered as an extraintestinal manifestation in CEAS patients. Since CEAS and Crohn's disease are clinically indistinguishable, patients are often misdiagnosed with Crohn's disease. Herein, we describe a 4-year-old Turkish girl with CEAS due to homozygous pathogenic variant (c.656C > T) in SLCO2A1 with concomitant hereditary fructose intolerance (HFI) caused by homozygous pathogenic variant (c.1005C > G) in ALDOB. Prompt restriction of fructose, sucrose and sorbitol resulted in hepatomegaly regression and mild amelioration of patient's symptoms. Despite budesonide and azathioprine treatments, patient's protein losing enteropathy and chronic anemia did not improve. Although previous CEAS cases were reported from East Asian countries, it is likely to occur in people from other geographic areas. CEAS seems to be underdiagnosed and high index of suspicion is required for the diagnosis of this rare entity. Patients with prior diagnosis of Crohn's disease with no response to immunosuppressive treatment or anti-TNF therapy should be re-evaluated for possible CEAS diagnosis.en_US
dc.identifier.endpage293en_US
dc.identifier.issn1687-1979en_US
dc.identifier.issue4en_US
dc.identifier.scopus2-s2.0-85141990524en_US
dc.identifier.startpage290en_US
dc.identifier.urihttp://hdl.handle.net/11727/10792
dc.identifier.volume23en_US
dc.identifier.wos000899818100013en_US
dc.language.isoengen_US
dc.relation.isversionof10.1016/j.ajg.2022.10.007en_US
dc.relation.journalARAB JOURNAL OF GASTROENTEROLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectgeneen_US
dc.subjectChronic nonspecific ulcersen_US
dc.subjectHereditary fructose intoleranceen_US
dc.titleChronic Enteropathy Associated with SLCO2A1 Gene and Hereditary Fructose Intolerance: A Coincidence of Two Rare Diseasesen_US
dc.typearticleen_US

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