"Cystic fibrosis in Paediatric Surgery" by Dr Qanitah Salie, Department of Paediatric Surgery, East London, South Africa. This is the recording of a talk as a part of the Zoom academic meetings of the Department of Paediatric Surgery in East London, South Africa.
"Cystic fibrosis in Paediatric Surgery" by Dr Qanitah Salie, Department of Paediatric Surgery, East London, South Africa
Summary
Join us in this on-demand teaching session focused on cystic fibrosis, a multisystemic disorder with an autosomal recessive pattern of inheritance. This comprehensive course, designed for medical professionals, will delve into the typical presentation and survival rates of the disease, the CFTR gene mutations present, and the related pathophysiology occurring in the lungs, pancreas, GIT, and reproductive system. You will leave with an understanding of how the disease manifests in different life stages, from neonates to adolescents.
The course further breaks down diagnostics and treatment options, including newborn screening, genotyping, and lung transplant, amongst others. Moreover, it highlights the role of pediatric surgeons and operative treatment, such as t-tube enterostomy and Bishop-Koop ileostomy. Outcomes and mortality rates, underpinned by recent research, are also a part of the discussion, ensuring that the session is grounded in evidence-based practice. Don't miss this opportunity to extend your knowledge and improve your clinical skills related to cystic fibrosis.
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Description
Learning objectives
- Explain the genetic mutations and the role of the CFTR gene in the pathology of cystic fibrosis.
- Differentiate the specific pathophysiological impacts of cystic fibrosis on various bodily systems, including the respiratory system, the pancreas, the gastrointestinal tract, and the reproductive system.
- Recognize the common presentations of cystic fibrosis at different stages of life, from neonates to adolescents.
- Understand the diagnostic tests used to confirm cystic fibrosis, including newborn screening, sweat test, genotyping, and stool elastase.
- Describe the treatments for cystic fibrosis, including the benefits and limitations of both non-surgical and surgical interventions.
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z QS MAY 2021 CYSTIC FIBROSISz Introduction ▪ Multisystem dysfunction ▪ Autosomal recessive ▪ Incidence ▪ Typical presentation ▪ Survival ratez Mutation ▪ Mutation ▪ CFTR gene ▪ Classes l-lll ▪ Classes lV-V ▪ Delta F508z Pathophysiology ▪ CFTR ▪ Epithelial cells ▪ C-AMP activated ATP-gated anion channel ▪ Down electrical chemical gradient ▪ Conformational changez Pathophysiology: In the lungs... ▪ Respiratory epithelia ▪ Disrupted chloride ion movement ▪ Affects sodium reabsorption ▪ Reduced secretionsz Pathophysiology: In the pancreas... ▪ Pancreatic duct ▪ Impaired exocrine function ▪ Pancreatic insufficiency ▪ Some impaired endocrine functionz Pathophysiology: In the GIT ... ▪ Meconium ileus ▪ Distal intestinal obstruction ▪ Cholestasis ▪ Liver diseasez Pathophysiology: In the reproductive system... ▪ Males ▪ Absence of vas deferens ▪ Females ▪ Poor nutritionz Presentation: In neonates... ▪ Meconium ileus ▪ Appendicitis ▪ Failure to thrive ▪ Prolonged neonatal jaundicez Meconium ileus- Simple & complicated ▪ Simple meconium ileus ▪ Complex meconium ileusz Presentation: In infancy... ▪ Failure to thrive ▪ Recurrent chest infections ▪ Pancreatic insufficiency and steatorrhoea ▪ Intussusceptionz Presentation: In childhood... ▪ Rectal prolapse ▪ Nasal polyps ▪ Sinusitisz Presentation: In adolescents... ▪ Pancreatic insufficiency and diabetes mellitus ▪ Chronic lung disease ▪ Distal intestinal obstruction ▪ Gall stones and liver cirrhosisz Diagnostics ▪ Newborn screening ▪ Sweat test ▪ Genotyping ▪ Stool elastasez Treatments ▪ Mucous clearance ▪ Control infection ▪ Improve nutrition ▪ Lung transplant ▪ Psychological and social supportz Cystic fibrosis and the Paediatric Surgeon ... ▪ Delay in meconium: meconium plug ▪ Distended abdomen: distal obstruction ▪ Peritonism in the newborn: appendicitis ▪ Jejunal atresia: cystic fibrosis serves as predisposition ▪ Intussusception ▪ Chronic painz Operative treatment of meconium ileus ▪ T-tube enterostomy ▪ Bishop-Koop ileostomy ▪ Santulli ileostomy ▪ Mickulicz double barrel ileostomyz Operative treatment of meconium ileusz Outcomes ▪ Reduction in mortality with meconium ileus ▪ High mortality rate from respiratory failure ▪ Overall higher survival ratez References ▪ A. Karimi, R. R. Gorter, Chr. Sleeboom, C. M. F. Kneepkens, H. A. Heij; Issues in the management of simple and complex meconium ileus; Pediatr Surg Int (2011) 27:963–968 ▪ TN Rogers, C Joseph, DMG Bowley, GJ Pitcher; Appendico- cutaneous fistula in Cystic Fibrosis; Paediatr Surg Ing (2004) 20: 151-152 ▪ ATR Westwood, JD Ireland, MD Bowie; Surgery in Cystic Fibrosis; SAJS; Vol 35 No 34; November 1997 ▪ Editorial; Surgery and Cystic Fibrosis; SAJS; Vol 35 No 4; November 1997z Thank you...