Clinical manifestations and associated disorders in children with celiac disease in southern Iran.

BACKGROUND: Celiac disease (CD) is an immune mediated inflammatory enteropathy, triggered by gluten exposure in HLA-DQ2 and/or -DQ8 genetics. The presentation of celiac disease in children is changing, with increase in non-classical symptoms. We aim to evaluate the clinical presentations of celiac disease amongst children, diagnosed with CD. METHODS: In this cross sectional study, we investigated the clinical features of 130 celiac patients at hospitals affiliated with Shiraz University of Medical Sciences. We used their hospital charts and conducted an interview with patients and their parents to find out demographic data, symptoms, laboratory, and histopathology findings for Marsh grading. RESULTS: Celiac disease was detected more amongst females (63.8%). We found that 5.4% of the patients had BMI more than 95th percentile. The most common GI symptoms were abdominal pain, flatulence and constipation. Also, the most common extra intestinal manifestation included bone pain, long term fatigue and anemia. Flatulence, chronic diarrhea, and paresthesia were observed more amongst male participants. The most common comorbidities were type 1 diabetes mellitus and hypothyroidism. CONCLUSION: The most common gastrointestinal symptoms amongst our patients were abdominal pain, flatulence and constipation. Furthermore, the most common extra intestinal manifestations included bone pain, long term fatigue and anemia. The most associated comorbidities with CD in our children were type 1 diabetes mellitus and hypothyroidism.

Prevalence of the CYP2C19*2 (681 G>A), *3 (636 G>A) and *17 (­806 C>T) alleles among an Iranian population of different ethnicities.

Polymorphisms in the cytochrome P (CYP) 450 family may cause adverse drug responses in individuals. Cytochrome P450 2C19 (CYP2C19) is a member of the CYP family, where the presence of the 681 G>A, 636 G>A and 806 C>T polymorphisms result in the CYP2C19*2, CYP2C19*3 and CYP2C19*17 alleles, respectively. In the current study, the frequency of the CYP2C19*2, CYP2C19*3 and CYP2C19*17 alleles in an Iranian population cohort of different ethnicities were examined and then compared with previously published frequencies within other populations. Allelic and genotypic frequencies of the CYP2C19 alleles (*2, *3 and *17) were detected using polymerase chain reaction (PCR)­restriction fragment length polymorphism analysis, PCR­single­strand conformation polymorphism analysis and DNA sequencing from blood samples of 1,229 unrelated healthy individuals from different ethnicities within the Iranian population. The CYP2C19 allele frequencies among the Iranian population were 21.4, 1.7, and 27.1% for the CYP2C19*2, CYP2C19*3 and CYP2C19*17 alleles, respectively. The frequency of the homozygous A/A variant of the CYP2C19*2 allele was significantly high and low in the Lur (P<0.001) and Caspian (P<0.001) ethnicities, respectively. However, the frequency of the homozygous A/A variant of the CYP2C19*3 allele was not detected in the Iranian cohort in the current study. The frequency of the heterozygous G/A variant of the CYP2C19*3 allele had the significantly highest and lowest frequency in the Fars (P<0.001) and Lur (P<0.001) groups, respectively. The allele frequency of the homozygous T/T variant of the CYP2C19*17 allele was significantly high in the Caspian (P<0.001) and low in the Kurd (P<0.05) groups. The frequency of the CYP2C19 alleles involved in drug metabolism, may improve the clinical understanding of the ethnic differences in drug responses, resulting in the advancement of the personalized medicine among the different ethnicities within the Iranian population.