ABSTRACT
BACKGROUND: Allergic diseases account for the largest proportion of chronic diseases in childhood and adolescence and place a significant burden on everyday family, social, and in particular school life. Without appropriate education, affected individuals often have little of the knowledge required to understand and deal safely with their allergic disease, and their social environment (school) generally offers insufficient information. An interdisciplinary project involving the Bielefeld Community Foundation ("Bielefelder Bürgerstiftung"), the Children's Center Bethel, and the local school authority investigated the current knowledge, possibilities for increasing that knowledge, as well as pupils' and teachers' perception of the problems experienced by fellow pupils, while at the same time collecting current prevalence figures on allergic diseases among primary school children. METHODS: All Bielefeld primary schools were invited to participate in the 3 years between 2008 and 2010. A teaching session on allergic diseases held by specialists from the pediatric hospital formed the core of the project. A standardized survey of children - which also addressed non-affected children for the first time in Germany - on the effects of, their knowledge of, and their attitudes toward allergic diseases, as well as an assessment of their quality of life (cross-sectional study), was conducted prior to and following each session. Parents were also surveyed. RESULTS: In all, 24 schools per year, each with around 60 classes and 1,250 pupils aged 9 years, took part between 2008 and 2010. Approximately 30 % reported suffering from an allergic disease themselves, of which - with regard to single entries - 16 % were "allergies," 4 % "asthma," and 5 % atopic dermatitis. Figures collected from parents were only slightly lower than those from their children. Clear deficits that existed in terms of factual knowledge and/or correct conduct in allergic disease - among affected children as well as in their social environment - prior to the education program were noticeably improved by the teaching session. DISCUSSION: The prevalence data gathered here confirm the high numbers recently found in the KiGGS study. Thus, allergic diseases represent a considerable disease risk and potential burden in school children. Providing affected children and their social environment (teachers, fellow pupils) with specialist education can bring about considerable improvements in everyday school life.
ABSTRACT
BACKGROUND: Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide. METHODS: We identified nine children with severe diffuse interstitial lung disease due to CSF2RA mutations. Clinical course, diagnostic findings and treatment were evaluated and correlated to the genotype. Functional impairment of the intracellular JAK/pStat5 signaling pathway was assessed using flow-cytometry of peripheral mononuclear cells (PBMC) and granulocytes. RESULTS: We identified six individuals with homozygous missense/nonsense/frameshift mutations and three individuals homozygous for a deletion of the complete CSF2RA gene locus. Overall, four novel mutations (c.1125 + 1G > A, duplication exon 8, deletion exons 2-13, Xp22.3/Yp11.3) were found. Reduced STAT5 phosphorylation in PBMC and granulocytes was seen in all cases examined (n = 6). Pulmonary symptoms varied from respiratory distress to clinically silent. Early disease onset was associated with a more severe clinical phenotype (p = 0.0092). No association was seen between severity of phenotype at presentation and future clinical course or extent of genetic damage. The clinical course was favorable in all subjects undergoing whole lung lavage (WLL) treatment. CONCLUSIONS: Our cohort broadens the spectrum of knowledge about the clinical variability and genotype-phenotype correlations of juvenile PAP, and illustrates the favorable outcome of WLL treatment in severely affected patients.
