RESUMO
Crohn's disease (CD) is a chronic inflammatory disease of the gastrointestinal tract. Although the exact etiology of disease is still unknown, mutations in the CARD15/NOD2 gene have been reported in association with CD in several studies. This study was performed to determine whether the CARD15/NOD2 gene confers susceptibility to Iranian pediatric patients with CD. All 12 coding exons of the CARD15/NOD2 gene were sequenced in 16 enrolled pediatric onset CD patients. Sequencing of the CARD15/NOD2 gene showed no mutation. However, two patients harbored polymorphisms within this gene. A heterozygous single nucleotide polymorphism rs3135500 Câ>âY in the exon 12.3 was detected in a 10-year-old girl with mild severity of CD and history of rectovaginal and perianal fistula, and multiple skin tags. The other 5-year-old boy with moderate to severe CD and a history of perianal fissures and oral candidiasis harbored heterozygous single nucleotide polymorphisms in exons 4.1 and 12.1. The results of the present study show that the CARD15/NOD2 mutations in Iranian patients with pediatric onset CD are not responsible for the pathogenesis of disease.
Assuntos
Doença de Crohn/epidemiologia , Doença de Crohn/genética , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Proteína Adaptadora de Sinalização NOD2/genética , Polimorfismo de Nucleotídeo Único/genética , Criança , Feminino , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Prevalência , Análise de Sequência de DNA/estatística & dados numéricosRESUMO
Crohn's disease (CD) and ulcerative colitis (UC) are two inflammatory bowel diseases (IBD) characterized by chronic intestinal inflammation. In this study, the clinical characteristics of a cohort of pediatric patients with IBD are reviewed and their responses to induction therapy are evaluated. The severity of disease for 43 patients (20 with CD and 23 with UC) was determined using the PCDAI and PUCAI and based on the initial severity, before treatment was started. Following treatment, the severity of disease was re-evaluated at 6 months after the initial diagnosis. The patients in both groups had mild-to-severe disease. The mean PCDAI and PUCAI values were 60.62 +/- 16.48 and 50.95 +/- 9.35, for CD and UC patients, respectively. Most patients (83.7 %) responded to standard treatments with a significant reduction in the PCDAI and PUCAI scores from baseline (p value < 0.001). At the primary endpoint of 24 weeks, 54 % of all patients were in clinical remission; 16 of 23 in the UC group (70 %) and 6 of 20 in the CD group (30 %). The results of this study provide evidence that subgrouping pediatric patients with IBD into distinct clinical phenotypes based on severity of the initial presentation may provide better means of management of this group. This approach can result in a better response to treatment and reduce the side effects of unnecessary therapy.
Assuntos
Anti-Inflamatórios/administração & dosagem , Doenças Inflamatórias Intestinais/tratamento farmacológico , Doenças Inflamatórias Intestinais/terapia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Indução de Remissão/métodos , Resultado do TratamentoRESUMO
A 14 year old female complained of abdominal pain and distention with vomiting. The physical exam showed thyroid enlargement and ascites. The imaging evaluation demonstrated a large ovarian cyst. Laboratory tests depicted hypothyroidism and marked elevation of Carbohydrate antigen 125 (CA-125) levels. As the bone age was 10 years, more retarded than the chronological age, Van Wyk and Grumbach syndrome was suspected. Treatment with thyroid hormone was initiated and the condition improved dramatically with disappearance of symptoms and signs 5 weeks later.