Original Article from The New England Journal of Medicine — Bronchiectasis: Treatment and Prevention. Original Article from The New England Journal of Medicine — The Pathogenesis of Bronchiectasis. 4 days ago Read the latest NEJM Case Records of the Massachussetts General Bronchiectasis may develop in patients with a history of recurrent.

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This type of mutation bronchiecatsis the target of the drug ivacaftor, which restores partial ion transport. Bronchiectasis may develop in patients with a history of recurrent pneumonia, particularly those with chronic aspiration.

Therefore, nodal ciliary dysfunction can produce dextrocardia, situs inversus totalis, and situs ambiguus. Primary ciliary dyskinesia can also cause left—right asymmetry. There are close to recognized CFTR mutations, and each one confers a different degree of diminished chloride ion transport.

Bronchiectasis is characterized by irreversible damage of the airways that results in dilatation. Cystic fibrosis is a recessive genetic disease that is caused by mutations in both alleles of the CFTR gene, which encodes the cystic fibrosis transmembrane conductance regulator CFTR.


Back to Social Login. Many lung infections can result in the development of bronchiectasis, including those caused by Mycobacterium tuberculosis and Bordetella pertussis. We will not share your email with anyone.

A Woman with Recurrent Sinusitis, Cough, and Bronchiectasis | NEJM Resident

Show or Hide the password you are typing. Log in via Email. Request to Join has invited you to join this group. What are some of the causes of bronchiectasis? This is the target of action of the drugs lumacaftor and tezacaftor. Patients with immunodeficiency syndromes are at high risk for the development of bronchiectasis.

The primary defect that is caused by the Phedel mutation is that the CFTR protein is synthesized but misfolded, which keeps it from reaching the cell surface. In addition to impaired airway clearance, fertility problems can arise in males as a result of impaired spermatozoa motility and in females as a result of impaired ciliary function in the oviduct. With the administration of these treatments at cystic fibrosis—specific treatment centers, median survival has increased from The DH mutation is considered to be a partial-function mutation that results in diminished ion transport.


Primary ciliary dyskinesia is a congenital, autosomal recessive disorder that is characterized by immotile or dyskinetic cilia.

Create your account Back to Social Login. Inthe qualifying mutations for the administration of ivacaftor were expanded to include DH.

A Woman with Recurrent Sinusitis, Cough, and Bronchiectasis

Mutations in CFTR disrupt sodium absorption, chloride secretion, and water transport, leading to the development of viscous mucus that adheres to the airway and impairs bacterial clearance. A hypersensitivity response, known as allergic bronchopulmonary aspergillosis, may ensue, leading to a cycle of bronchial inflammation, mucoid impaction, and bronchial obstruction that results in bronchiectasis.

Describe features of primary ciliary dyskinesia. Password must be at least 8 characters. The CFTR protein forms a chloride channel that is critical to efficient mucus transport. In some people, inhalation of Aspergillus fumigatus provokes a brisk allergic response that is characterized by eosinophilia and a high level of IgE antibodies.