Background: There is considerable variation in recommendations from clinical practice guidelines on when and how to screen for glucose intolerance in people with cystic fibrosis (CF). In terms of glucose tolerance, the Australian Standards of Care state that blood glucose monitoring should be performed to exclude hyperglycaemia on a regular basis. Annual oral glucose tolerance test (OGTT) in patients 10 years or older should be considered and performed in patients with symptoms suggestive of glucose impairment or unexplained weight loss, growth failure or worsening respiratory disease.   In 2018, 13 (14%) of the eligible 99 patients with CF ≥10 years old had an OGTT.  Aims: To evaluate the added benefit of enhanced screening to children and adolescents with CF by improving screening to 50% by the end of 2020.  Methods:  A prospective cross-sectional quality improvement cycles was performed on patients in the CF clinic, ≥11 years for OGTT. Patients were excluded from OGTTs if they were prescribed insulin or prolonged oral/parenteral steroids.  Multiple quality improvement initiatives were tried. Each intervention was done as a plan-do-study-act cycles with refinement between each.  Results:  Screening for CF related diabetes (CFRD) increased in 2020 to 60% of >10 year olds. Four patients had new results suggestive of CFRD and ten had new impaired glucose tolerance.  The most successful strategy was sending letters to families.  Conclusion:  The Australian Standards of Care may require revision, as there may be a benefit of routine screening of all children at certain ages as opposed to waiting for symptoms.

Addressing the recognised challenges and inequalities in providing high quality health care for rare diseases such as children’s interstitial lung disease (chILD) requires collaboration across institutional, geographical, discipline, and system boundaries. The Children’s Interstitial Lung Disease Respiratory Network of Australia and New Zealand (chILDRANZ) is an example of a clinical network that brings together multidisciplinary health professionals for collaboration, peer learning, and advocacy with the goal of improving the diagnosis and management of this group of rare and ultra-rare conditions. This narrative review explores the multifaceted benefits arising from social learning spaces within rare disease clinical networks by applying the Value Creation Framework. The operation of the chILDRANZ network is used as an example across the framework to highlight how value is generated, realised, and transferred within such collaborative clinical and research networks. The community of clinical practice formed in the chILDRANZ multidisciplinary clinical peer support meetings provides a strong example of social learning that engages with the uncertainty inherent in rare disease diagnosis and management and pays attention to generate new knowledge and best practice to make a difference for children and families living with chILD. This review underscores international calls for further investment in, and support of, collaborative expert clinical networks for rare disease.

Surfactant, which was first identified in the 1920s is pivotal to lower the surface tension in alveoli of the lungs and helps to lower the work of breathing and prevents atelectasis. Surfactant proteins, such as surfactant protein B and surfactant protein C contribute to normal functioning of surfactant. Additionally, Adenosine Triphosphate Binding Cassette 3 and Thyroid Transcription Factor-1 are also integral for the normal structure and functioning of pulmonary surfactant. Through the study and improved understanding of surfactant over the decades, there is increasing interest into the study of childhood interstitial lung diseases (chILD) in the context of surfactant protein deficiencies. Surfactant protein deficiency syndrome (SPDS) is a group of rare diseases within the chILD group that is caused by genetic mutations of SFTPB, SPTPC, ABCA3 and TTF1 genes. This review article seeks to provide an overview of surfactant protein deficiencies in the context of chILD.