XƠ NANG TỤY BẨM SINH Ở TRẺ EM- BÁO CÁO CA BỆNH HIẾM

Abstract

Cystic fibrosis is an autosomal-recessive, monogenic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, the highest incidence being individual of North European descent and very rare in other races such as Asian, Africa and Caribbean. The cystic fibrosis phenotype is characterized by progressive lung disease, exocrine pancreatic insufficiency that results in gastrointestinal malabsorption, intestinal abnormalities that result in malnutrition, impaired growth and a variety of other manifestations. We report the first case of cystic fibrosis who was diagnosed in National Children‘s Hospital, a patient 6 months old with signs of recurrent pneumonia, prolonged digestive disorders, increased transaminases and severe malnutrition. She was diagnosed with CF by genetic analysis. The purpose of the article is to help clinicians think about and screen for CF in patients with complicated disease.