Abstract
Objective:To determine the clinical presentation, diagnostic investigations and laboratory workup done in admitted children with cystic fibrosis at Aga Khan University Hospital Karachi, Pakistan.Methods:This is athree years retrospective study from January 2013 to December 2015 conducted at The Aga Khan University Hospital Karachi Pakistan, enrolling admitted patient from birth to 15 years of either gender, diagnosed with CF on the basis of clinical features and positive sweat chloride test. Different clinical presentations were noted including initial presentations. Sweat chloride values more than 60mmol/L were labeled as positive and consistent with diagnosis of CF. Available Delta F-508 mutation analyses were noted. Relevant laboratory and radiological investigations including sputum culture and HR-CT chest findings were documented. Results were analyzed using SPSS version 20.Results:Total 43 children were selected according to the inclusion criteria. Chronic cough (69.76%) was the most common initial clinical presentation. Mean age at onset of symptoms was 14.41± 26.18 months and mean age at diagnosis was 47.20 ± 45.80 months Respiratory features were most common in our cohort including chronic productive cough (90.71%), recurrent bronchopneumonia (72.09%) and asthma like presentation (44.19%) with wheezing and cough. 86% patients presented with failure to thrive. Gastroenterological features including steatorrhea were seen in 55.81% patients and 44.19% patients had abdominal distension. Mean sweat chloride value in our population was 82.70± 22.74. Gene analysis for Delta F-508 was identified in 12 (27.90%) patients. Bronchiectatic pulmonary changes on HRCT were seen in 18 patients (41.86%). Pseudomonas grew in 12 patients (27.90%) in sputum cultures at the time of diagnosis.Conclusion:Respiratory presentations predominate in CF children followed by gastrointestinal features. Nearly half of our patient had bronchiectatic changes on CT scan chest and more than quarter had pseudomonas colonization in the airways at the time of diagnosis. Delta F-508 mutation was found to be uncommon in our study population. There is significant delay in diagnosing patients with CF.
Highlights
Cystic fibrosis (CF) is life limiting genetic disorder common in Caucasians of North America, Australia and Europe.[1,2] Mutated CF transmembrane conductance regulator (CFTR) epithelial chloride channel desiccates secretions in respiratory airways, hepatobiliary-pancreatic ducts and in other tissue linings, resulting in gradual and persistent organ damage.[3]
Most commonly reported CF related genetic mutation among Caucasians is Delta F-508.6 Limited range of genetic mutation analysis is available in our part of world
Mutations data reported in few studies in Pakistani CF suggested that D-F508 mutation is rare in this population.[5]
Summary
Cystic fibrosis (CF) is life limiting genetic disorder common in Caucasians of North America, Australia and Europe.[1,2] Mutated CF transmembrane conductance regulator (CFTR) epithelial chloride channel desiccates secretions in respiratory airways, hepatobiliary-pancreatic ducts and in other tissue linings, resulting in gradual and persistent organ damage.[3]. Approximate incidence of CF in South Asians immigrants settled in UK is about 1:10,000 to 1:12,000.4 CF is one of the under diagnosed disease in Pakistan.[5] Case identification on basis of history, examination and relevant laboratory investigations are fundamental for successful diagnosis. Neonatal Screening program measuring activated serum trypsinogen level has been conducted in developed countries to pick the potential cases early in life. In underdeveloped countries, screening programs are not available and most of the cases are diagnosed on the basis of clinical presentation and supported by sweat chloride test and genetic analysis. Most commonly reported CF related genetic mutation among Caucasians is Delta F-508.6 Limited range of genetic mutation analysis is available in our part of world. This is in contrast to some studies which showed predominance of this mutation in Pakistani community with CF.[7,8]
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