No abstract

Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary centerSíndrome hemolítica urêmica atípica genética em crianças: uma experiência de 20 anos a partir de um centro terciário

No abstract

Objectives: Evaluate the celiac disease (CD) markers, within the scope of its screening, in a pediatric population with diagnosis of type 1 diabetes (T1D) at Hospital de Braga (HB) and determine the prevalence of CD in the sample. Reflect on CD screening algorithm applied in this pediatric population. Subjects and methods: Retrospective observational study with 94 patients diagnosed with T1D at age 10 years or younger, followed up at the HB Outpatient Diabetology Consultation, including those referred from other hospitals. Record of clinical information, IgA anti-transglutaminase and anti-endomysium and HLA DQ2/DQ8 haplotypes. Results: We obtained positive serological test for CD in 4 patients. This test had 100% sensitivity and specificity. The prevalence of CD was 4.3% (n = 4). Positive HLA screening in 84.6% of patients, with both sensitivity and negative predictive value of 100% and specificity of 16.67%. Diagnosis of CD was made on average 3.40 ± 3.32 years after the diagnosis of TD1.All cases of CD registered non-gastrointestinal manifestations, none had gastrointestinal symptoms. Conclusion: This study proved that there is a higher prevalence of CD in pediatric population with TD1, when compared to general population, and clarified the importance of CD screening. Furthermore, it was observed that serological screening for CD antibodies is an excellent screening test and HLA typing, although not the most suitable first line test, can be useful in excluding the possibility of patients with T1D developing CD.

INTRODUCTION Iron deficiency is the world most prevalent nutritional disorder which is associated with impaired neurocognitive function in infants. The prevalence of iron deficiency anemia (IDA) in Portuguese infants remains unknown. The last study was performed by one of us (HA) in 1994 in a sample of 188 infants revealing a prevalence of IDA of 19%. The main objective of this study is to determine the current prevalence of IDA in a sample of infants nine months of age in Braga, Portugal. METHODS This was a cross-sectional study on a random sample of infants born from September 2016 to February 2017 at Braga Hospital. They were evaluated for anthropometry, socio-economic factors, feeding regime and a blood sample was taken for blood cell counts, serum ferritin and C reactive protein. RESULTS Forty-two infants were included. The prevalence of IDA was 7.1%.  Nine infants were anemic (21%); moderate anemia was observed in 2/9 of infants and mild anemia in 7/9 infants. Of the 3 infants with IDA, 2 had been exclusively breastfed until 6 months. CONCLUSIONS Compared to a study from 1994, there may have been a reduction in the prevalence of IDA in this area in Portugal.