Fecal microbiota transplantation in children with recurrent Clostridium difficile infection.

Clostridium difficile eradication using fecal microbiota transplantation (FMT) has been successful in adults but little information is available in pediatrics. We report 6 pediatric patients with refractory C. difficile cured by FMT with no recurrences to date. Our results demonstrate that FMT can be an effective treatment for refractory C. difficile infection in pediatrics. Long-term safety and efficacy need to be studied.

Development and validation of a celiac disease quality of life instrument for North American children.

OBJECTIVE: Given the social constraints imposed by a gluten-free diet, it can be hypothesized that children with celiac disease (CD) living in the United States have a reduced health-related quality of life (HRQOL); however, there is no validated CD-specific HRQOL instrument for children living in the United States. The goals of this study were to develop and validate a CD-specific HRQOL instrument for children 8 to 18 years of age with CD and to report HRQOL in these children using both generic- and disease-specific instruments. METHODS: This was a prospective study using focus group methodology to develop a CD-specific HRQOL instrument that was then administered to children 8 to 18 years of age with CD living throughout the United States. Instrument validation methods included construct, convergent, and divergent validities. RESULTS: Two instruments were developed: CD-specific pediatric HRQOL instrument (CDPQOL) 8 to 12 and CDPQOL 13 to 18. A total of 181 children with CD completed the CDPQOL as well as a comparator generic instrument. Exploratory factor analysis restructured the CDPQOL and reduced the total number of items. The CDPQOL showed a moderate agreement with the Psychosocial dimensions of the generic instrument confirming convergent validity and low-to-moderate agreement with the Physical Health Summary dimension of the generic instrument confirming divergent validity. CONCLUSIONS: The CDPQOL, consisting of 13 to 17 questions, is a validated instrument for the measurement of HRQOL in children 8 to 18 years of age with CD living in the United States.

Presentation of celiac disease.

The mode of presentation of patients with celiac disease has changed dramatically over the recent decades, with diarrheal or classic presentations becoming less common. This trend is most markedly seen in children, whose main presentations include recurrent abdominal pain, growth issues, and screening groups at risk. Among adults, presentations include diarrhea, anemia, osteoporosis, and recognition at endoscopy performed for gastroesophageal reflux disease, as well as screening. The groups most commonly screened include family members of patients with celiac disease, Down syndrome, and autoimmune diseases.

Immunoglobulin A deficiency in celiac disease.

GOALS: To determine the prevalence and significance of immunoglobulin A (IgA) deficiency and partial deficiency in patients with celiac disease (CD). BACKGROUND: Selective IgA deficiency is a common primary immunoglobulin deficiency and has a higher prevalence in patients with CD. The prevalence and significance of IgA deficiency and partial deficiency in patients with CD in the United States has not previously been examined. STUDY: A retrospective, cohort study of 1498 adults and 317 children seen in a University Medical Center was conducted. RESULTS: There were 26 patients (22 adults, 4 children) with CD who were IgA deficient and 11 (9 adults, 2 children) with CD who were partially IgA deficient. The prevalence of IgA deficiency/partial deficiency was similar among adults and children (2.1% and 1.9%, respectively, P=0.99). Among adults, concomitant autoimmune disease was present in 29% of IgA-deficient/partially deficient patients versus 12% of CD patients with normal IgA levels (P=0.0081). All 4 IgA-deficient patients who had persistently positive IgG celiac serologies while adherent to a gluten-free diet and were rebiopsied had a normal repeat biopsy. Both positive tissue transglutaminase IgG and antigliadin IgG were found in these patients. CONCLUSIONS: Selective IgA deficiency/partial deficiency is present in 2% of CD patients at this referral center and is equally prevalent among adults and children. IgA-deficient/partially deficient adults had a higher prevalence of concomitant autoimmune disease than those without IgA deficiency. In patients who are IgA deficient, IgG serologies may be persistently elevated despite histologic recovery.

Epidemiology and clinical presentations of celiac disease.

Evidence of the prevalence of celiac disease comes from serological screening studies. These have revealed that celiac disease is common, occurring in about 1 % of the population worldwide. There are some countries with higher prevalence rates such as Finland and others with lower rates, for example Germany. The disease is found in most continents and appears to be increasing. Most people with the disease are not currently diagnosed though women are diagnosed more frequently than men. The mode of presentation has changed both in children and adults with diarrhea and a malabsorption syndrome becoming less common. Abdominal pain and growth issues are major modes of presentation in children, while anemia, osteoporosis, and recognition at endoscopy performed for GERD are seen as modes of presentation in adults. Screening of at risk groups is a major mode of presentation for both adults and children.

Increased incidence of eosinophilic esophagitis in children and adults with celiac disease.

GOALS AND BACKGROUND: Case series have suggested an association between eosinophilic esophagitis (EoE) and celiac disease (CD) in children. We analyzed a cohort of patients with CD to confirm this association in children, and determine whether it extends into adulthood. METHODS: A database of patients with CD was reviewed to determine the number of patients with comorbid diagnoses of EoE. Histopathology reports of esophageal biopsies were reviewed to identify all cases of increased esophageal eosinophilia. Cases of EoE were diagnosed if biopsies revealed ≥ 15 eosinophils per high power field and associated symptoms were present. Age-adjusted and sex-adjusted standardized incidence ratios (SIR) with corresponding 95% confidence intervals (CI) were calculated in comparison to published US population-derived incidence data. RESULTS: EoE was diagnosed in 4 children and 10 adults. EoE is more common compared with the general population; SIR for children was 35.6 (95% CI, 9.3-79.0) and for adults 13.1 (95% CI, 6.2-22.5). Overall, the age-adjusted and sex-adjusted SIR was 16.0 (95% CI, 8.7-25.5). CONCLUSIONS: The incidence of EoE in our cohort of patients with CD was increased compared with the general population. Coexistent EoE should be considered in patients with CD who have persistent esophageal symptoms.

Celiac disease in normal-weight and overweight children: clinical features and growth outcomes following a gluten-free diet.

OBJECTIVES: There are few data on pediatric celiac disease in the United States. The aim of our study was to describe the presentation of celiac disease among children with a normal and an elevated body mass index (BMI) for age, and to study their BMI changes following a gluten-free diet (GFD). PATIENTS AND METHODS: One hundred forty-two children (age 13 months-19 years) with biopsy-proven celiac disease, contained in a registry of patients studied at our center from 2000 to 2008, had follow-up growth data available. Patients' height, weight, and BMI were converted to z scores for age and grouped by BMI as underweight, normal, and overweight. Compliance was confirmed using results of serological assays, and data of noncompliant patients were analyzed separately. Data were analyzed during the observation period and were expressed as change in height, weight, and BMI z score per month of dietary treatment. RESULTS: Nearly 19% of patients had an elevated BMI at diagnosis (12.6% overweight, 6% obese) and 74.5% presented with a normal BMI. The mean duration of follow-up was 35.6 months. Seventy-five percent of patients with an elevated BMI at diagnosis decreased their BMI z scores significantly after adherence to a GFD, normalizing it in 44% of cases. Of patients with a normal BMI at diagnosis, weight z scores increased significantly after treatment, and 13% became overweight. CONCLUSIONS: Both normal weight and overweight frequently occur in North American children presenting with celiac disease. A GFD may have a beneficial effect upon the BMI of overweight and obese children with celiac disease.