Detection of <scp>M</scp>editerranean fever gene mutations in <scp>E</scp>gyptian children with inflammatory bowel disease

Salah, Samia; El-Shabrawi, Mortada; Lotfy, Hayam M.; Shiba, Hala; Abou-Zekri, Maha; Farag, Yomna

doi:10.1111/1756-185x.12482

Cited by 16 publications

(16 citation statements)

References 24 publications

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“…In the present study, 11 patients (22.9%) were also diagnosed with FMF confirmed by genetic testing. This observation agrees with the study by Salah et al[ 26 ] conducted at our institute, which reported a significant association between MEFV gene mutation and IBD in Egyptian children, especially in patients with indeterminate colitis (IBD-U)[ 26 ].…”

Section: Discussionsupporting

confidence: 93%

Hepatobiliary manifestations in children with inflammatory bowel disease: A single-center experience in a low/middle income country

El-Shabrawi¹,

Tarek²,

Abou-Zekri³

et al. 2020

WJGPT

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BACKGROUND There has been a worldwide increase in the reported incidence of inflammatory bowel disease (IBD) in children over the past 2-3 decades. The hepatobiliary (HB) manifestations of IBD have been well-studied in children in industrialized and developed countries but are infrequently reported in low- and middle-income countries (LMIC) such as Egypt. AIM To determine the prevalence of the HB manifestations in a cohort of Egyptian children with IBD. METHODS This cross-sectional observational study was carried out over a period of 6 mo (between June 2013 to December 2013) at the Paediatric Hepatology and Gastroenterology Units of Cairo University Children's Hospital, which is the largest paediatric tertiary care centre in the country. RESULTS The study included 48 patients with confirmed IBD based upon clinical, laboratory, endoscopic and histopathological features, 29 (60.4%) were male. Twenty-four patients (50%) had ulcerative colitis (UC), 11 (22.9%) had Crohn's disease (CD) and 13 (27.1%) had unclassified-IBD (IBD-U), which was formerly known as indeterminate colitis. The mean age of the patients at the time of presentation was 8.14 (± SD 4.02) years and the mean age at the time of study enrolment was 10.16 (± SD 4.19) years. All patients were screened for HB manifestations by physical examination, liver function tests, imaging and liver biopsy when indicated. HB disorders were confirmed in 13 patients (27.1%). Transaminases were elevated in 3 patients (6.3%). Two patients (4.2%) had elevated biliary enzymes (one was diagnosed as primary sclerosing cholangitis (PSC) and the other was diagnosed with PSC/autoimmune hepatitis overlap syndrome and the third patient had hepatitis C virus infection. Ten patients (20.8%) had bright echogenic liver on ultrasound suggesting fatty infiltration as a sequel of malnutrition or medication toxicity. CONCLUSION The commonest HB disorders in Egyptian children with IBD were abnormal liver function tests, fatty infiltration and PSC. These HB manifestations in paediatric patients in LMIC may be relatively more common than in industrialized countries. Therefore, IBD patients in LMIC should be meticulously screened for liver disease to allow prompt diagnosis and management.

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Section: Discussionsupporting

confidence: 93%

Hepatobiliary manifestations in children with inflammatory bowel disease: A single-center experience in a low/middle income country

El-Shabrawi¹,

Tarek²,

Abou-Zekri³

et al. 2020

WJGPT

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“…On the other hand, in studies conducted in patients with IBD, the incidence of FMF was found between 5% and 25% [ 14 16 ]. Salah et al [ 17 ] analyzed the frequency of MEFV mutations in children with IBD and they found that 88% of the IBD patients carried the one of the MEFV mutations and especially common in indeterminate colitis. FMF should be considered in differential diagnosis especially in cases of early-onset and treatment-resistant IBD.…”

Section: Discussionmentioning

confidence: 99%

Endoscopic Findings of Children with Familial Mediterranean Fever

Sağ

Demir

Sayğın

et al. 2018

Pediatr Gastroenterol Hepatol Nutr

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PurposeFamilial Mediterranean fever (FMF) is an auto inflammatory disease characterized by periodic fever, synovitis and serositis. Patients may be admitted to gastroenterology units due to gastrointestinal symptoms. In this study; we aimed to analyze endoscopic findings and diagnostic utility of endoscopic procedure in children with FMF.MethodsPatient with FMF that was performed endoscopy for the gastrointestinal symptoms were included to the study (39 of 164 patients, 53 procedure). A control group was randomly designed as age and gender matched four endoscopic procedures per one endoscopic procedure of patients with FMF (n=212).ResultsNo different was found between the patients and control group in esophagogastroscopy findings. However, the diagnosis of gastrointestinal pathology was made by esophagogastroscopy in 46.2% patients. Colonoscopic examination revealed that the frequency of inflammatory bowel disease (IBD) was higher in undiagnosed patients compared to both the control group (50.0% vs. 6.9%, p<0.05, odds ratio [OR]:13.4 and 95% confidence inteval [95% CI]: 2.1–84.3) and the patients under colchicine treatment (50.0% vs. 8.3%, p<0.05, OR: 11 and 95% CI: 0.8–147.8). Colonoscopic procedure that was made after the diagnosis was found to provide contribution by 16.7% in determining the etiology of the additional symptoms.ConclusionPatients with FMF may be admitted to pediatric gastroenterology outpatient clinic prior to diagnosis or during the follow-up period. The frequency of IBD is high in undiagnosed patients with FMF. Endoscopic procedures may be helpful in these patients for the diagnosis accompanying mucosal lesions.

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“…In this study, we focus on the frequency of MEFV gene mutations in IBD, rather than the cooccurrence or frequency of FMF in IBD. Only two studies discovered that MEFV gene mutation was highly frequent in IBD and reported other confusing factors such as kinship marriages or low mutation rates in control groups [ 16 , 17 ]. However, similar studies demonstrated that the frequency of MEFV gene mutations in IBD patients is not significant compared to the healthy population [ 10 – 12 , 18 ].…”

Section: Discussionmentioning

confidence: 99%

Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease

Şahin

Güleç

Günay

et al. 2021

Gastroenterology Research and Practice

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Background. The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar. Objective. Here, the frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD were evaluated. Methods. DNA sequence analysis detected the variants on the MEFV gene in patients with IBD. The relationship between mutations and the need for steroids, immunomodulators, biologics, and surgery was assessed. Results. We evaluated 100 patients with IBD (55 with ulcerative colitis (UC) and 45 with Crohn’s disease (CD)) and 60 healthy individuals as controls. The frequency of MEFV gene mutation was 26.7% ( n = 12 ) and 14.5% ( n = 8 ) for UC and CD, respectively. No relationship was found between MEFV gene mutation and the need for steroids, immunomodulators, and biologics ( p = 0.446 ; p = 0.708 ; p > 0.999 , resp.); however, in UC, the need for surgery in those with mutation ( p = 0.018 ) and E148Q mutation alone was significant ( p = 0.037 ). Conclusion. The rate of MEFV gene mutations was high in patients with UC who required surgery. These patients have frequent and severe attacks, indicating that the mutations are related to disease severity. MEFV mutation as a modifier factor of IBD should be considered.

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Detection of Mediterranean fever gene mutations in Egyptian children with inflammatory bowel disease

Cited by 16 publications

References 24 publications

Hepatobiliary manifestations in children with inflammatory bowel disease: A single-center experience in a low/middle income country

Hepatobiliary manifestations in children with inflammatory bowel disease: A single-center experience in a low/middle income country

Endoscopic Findings of Children with Familial Mediterranean Fever

Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease

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