Failure to thrive and a diagnosis of protein energy malnutrition (kwashiorkor) are the common presenting features of CF in children with the 3120+1G>A mutation. Meconium ileus is a rare presenting feature of CF in black and mixed race children with this deletion in South Africa.
Background: Cystic fibrosis (CF) is described more commonly in Caucasian populations in whom p.Phe508del is the most common mutation. There is a paucity of data of CF in black African children. The aim of this study was to describe and compare the presentation and outcomes of black African children with CF to those with p.Phe508del genotype. Methods: A retrospective case-controlled study was conducted from January 2000-March 2018 of children with CF attending two CF centres in South Africa. Presentation, genotype, nutrition and pulmonary function outcomes of black African children were compared to matched controls with the p.Phe508del mutation. Conclusion: Black African children with CF were more malnourished at diagnosis, and fewer presented with neonatal bowel obstruction. Cases and controls had comparable nutritional, pulmonary function and early mortality outcomes.
On a global scale, asthma is the most common chronic non-communicable disease in children. It is a heterogeneous condition characterised by chronic inflammation and variable expiratory airflow limitation, [1] as well as airway reversibility (evidence level C). Airway inflammation and airway obstruction are features of asthma and are usually not measured in young children, except in research settings. The term asthma, therefore, should not be used to describe preschool wheezing illness. [2] The child should demonstrate clinical improvement during 2-3 months of controller treatment, with worsening of symptoms after treatment cessation. [3] A history of other allergic disease (eczema or allergic rhinitis) or asthma in firstdegree relatives is useful in some instances (evidence level B). Objectives We reviewed the current literature on the diagnosis of asthma in children, with particular emphasis on young children and the available evidence. We also examined the assessment of asthma control in children and the current evidence basis for the importance of these assessments. Methods The South African Childhood Asthma Working Group (SACAWG) convened in January 2017 with six task groups, each assigned to a section leader (Appendix A), who constituted the editorial committee on assessment of asthma epidemiology, diagnosis, control, treatments, novel treatments and self-management plans. The task groups reviewed the available scientific literature on the diagnosis of asthma and assessment of asthma control in young children according to high-quality evidence, graded the level of evidence, and made recommendations based on the literature (Appendix B). This open-access article is distributed under Creative Commons licence CC-BY-NC 4.0.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.