Abstract Ref Number = APCP1194
A RARE CASE REPORT OF A SEVEN-YEAR-OLD INDONESIAN BOY WITH CYSTIC FIBROSIS AN EXPERIENCE FROM ASIAN POPULATION
Rini Savitri Daulay,Wahyuni Indawati,Ridwan Muchtar Daulay,Heda Melinda Nataprawira
Department of Child Health Faculty of Medicine Universitas Sumatera Utara Medan North Sumatera Indonesia Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia Department of Child Health, Faculty of Medicine, Universitas Sumatera Utara, Medan, North Sumatera, Indonesia Department of Child Health, Faculty of Medicine, Universitas Padjajaran, Bandung, West Java, Indonesia
Background : Cystic fibrosis (CF) is a very rare disease in Asians, but it is a common genetic disease in Caucasians. CF is caused by a complex mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Loss of CTR function promotes defects of ion and fluid balance at the epithelial surface and generate decreased mucus clearance, leading to mucus stagnation and recurrent infection.
Case Presentation Summary : A 7-year-old Indonesian boy presented with chronic cough and malabsorption. Clinical examination found normal breath sound and failure to thrive. We performed chest x ray, chest CT scan, sweat chloride test, sinus x ray and lung function test as diagnostic tests in CF. Chest x ray and chest CT scan revealed bronchial wall thickening and fibrosis of the lungs. Sweat test showed positive result with sweat chloride level of 112 mml/L. Unfortunately, genetic analysis test to identify the gene mutation was not performed yet due to financial problem. Maxillaries sinusitis determined from sinus x ray. Spirometry result reflected restrictive lung disease with FEV1 74.4%, FVC 74.6% and FEV1/FVC 90.57%. Management of this patient consists of intra venous antibiotic to treat the Pseudomonas aeruginosa infection revealed from sputum culture, hypertonic saline inhalation for airway clearance therapy, intra nasal steroid for the management of sinusitis and pancrelipase as an enzyme replacement therapy.
Learning Points/Discussion : CF should always be considered for a differential diagnosis of children with chronic cough and malabsorption even in Asian. This case report presented an Indonesian boy with CF and diagnosis based on clinical manifestation, radiograph and sweat chloride test. Applying a standard management for CF proved useful for this patient and continue monitoring is mandatory for patient with CF due to short and long term complication.
Keywords: Cystic fibrosis Asian Indonesian