Williams–Campbell syndrome (WCS) is a

disease A disease is a particular abnormal condition that adversely affects the structure or function (biology), function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical condi ...

of the

airway The respiratory tract is the subdivision of the respiratory system involved with the process of conducting air to the alveoli for the purposes of gas exchange in mammals. The respiratory tract is lined with respiratory epithelium as respiratory ...

s where

cartilage Cartilage is a resilient and smooth type of connective tissue. Semi-transparent and non-porous, it is usually covered by a tough and fibrous membrane called perichondrium. In tetrapods, it covers and protects the ends of long bones at the joints ...

in the

bronchi A bronchus ( ; : bronchi, ) is a passage or airway in the lower respiratory tract that conducts air into the lungs. The first or primary bronchi to branch from the trachea at the carina are the right main bronchus and the left main bronchus. Thes ...

is defective. It is a form of congenital cystic

bronchiectasis Bronchiectasis is a disease in which there is permanent enlargement of parts of the bronchi, airways of the lung. Symptoms typically include a chronic cough with sputum, mucus production. Other symptoms include shortness of breath, hemoptysis, co ...

. This leads to collapse of the airways and

. It acts as one of the differential to

allergic bronchopulmonary aspergillosis Allergic bronchopulmonary aspergillosis (ABPA) is a condition characterised by an exaggerated response of the immune system (a hypersensitivity response) to the fungus ''Aspergillus'' (most commonly '' Aspergillus fumigatus''). It occurs most ofte ...

. WCS is a deficiency of the

bronchial A bronchus ( ; : bronchi, ) is a passage or airway in the lower respiratory tract that conducts Atmosphere of Earth, air into the lungs. The first or primary bronchi to branch from the trachea at the Carina of trachea, carina are the right main b ...

distally.

Symptoms

# Persistent

cough A cough is a sudden expulsion of air through the large breathing passages which can help clear them of fluids, irritants, foreign particles and Microorganism, microbes. As a protective reflex, coughing can be repetitive with the cough reflex fol ...

Wheeze A wheeze is a clinical symptom of a continuous, coarse, whistling sound produced in the respiratory airways during breathing. For wheezes to occur, part of the respiratory tree must be narrowed or obstructed (for example narrowing of the lower ...

# Impaired lung function

Pathology

It is thought to result from a deficiency of cartilage formation in the 4th to 6th order segmental bronchi.

Diagnosis

Most described cases present sporadically in early childhood. However, some have been diagnosed as late as adulthood. Due to its rarity it presents a difficulty in adult diagnoses, and its initial presentation can be confused with

septic shock Septic shock is a potentially fatal medical condition that occurs when sepsis, which is organ injury or damage in response to infection, leads to dangerously low blood pressure and abnormalities in cellular metabolism. The Third International C ...

. Diagnosis requires an appropriate

clinical history The medical history, case history, or anamnesis (from Greek: ἀνά, ''aná'', "open", and μνήσις, ''mnesis'', "memory") of a patient is a set of information the physicians collect over medical interviews. It involves the patient, and even ...

, the characteristic expiratory airway collapse on radiological investigation, and

exclusion Exclusion may refer to: Legal or regulatory * Exclusion zone, a geographic area in which some sanctioning authority prohibits specific activities * Exclusion Crisis and Exclusion Bill, a 17th-century attempt to ensure a Protestant succession in En ...

of other causes of congenital and acquired

Pathology Pathology is the study of disease. The word ''pathology'' also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when used in the context of modern medical treatme ...

of the affected

bronchoscopy Bronchoscopy is an endoscopic technique of visualizing the inside of the airways for diagnostic and therapeutic purposes. An instrument (bronchoscope) is inserted into the airways, usually through the nose or mouth, or occasionally through a tr ...

showing the deficiency of cartilaginous plates in the bronchial wall is the

confirmatory test Presumptive tests, in medical and forensic science, analyze a sample and establish one of the following: #The sample is definitely not a certain substance. #The sample probably is the substance. For example, the Kastle–Meyer test will show eith ...

. However, lung biopsy has several complications and is not always diagnostic. Considering its non-invasive methodology, facility of execution, and good patient tolerance, multi-slice spiral CT or CT bronchoscopy should be the test of choice to study

cystic lung disease A focal lung pneumatosis is an enclosed pocket of air or gas in the lung and includes blebs, bullae, pulmonary cysts, and lung cavities. Blebs and bullae can be classified by their wall thickness. * A bleb has a wall thickness of less than 1 mm. ...

s in particular WCS. Radiologically, the lungs are overinflated, and on

bronchomalacia Bronchomalacia is a term for weak cartilage in the walls of the bronchial tubes, often occurring in children under a day. Bronchomalacia means 'floppiness' of some part of the bronchi. Patients present with noisy breathing and/or wheezing. There is ...

is demonstrated.

Treatment

In 2011, Hacken et al. conducted a systematic review, aiming to answer what are the effects of treatments in people with bronchiectasis but without cystic fibrosis. There are not enough studies to prove if bronchopulmonary hygiene,

physical therapy Physical therapy (PT), also known as physiotherapy, is a healthcare profession, as well as the care provided by physical therapists who promote, maintain, or restore health through patient education, physical intervention, disease preventio ...

mucolytics Mucoactive agents are a class of pharmacologic agents that include expectorants, mucolytics, mucoregulators, and mucokinetics that can affect the volume, viscosity, transportation, and composition of mucus or sputum. They often aid in clearing ...

, inhaled hyperosmolar agents, oral

corticosteroid Corticosteroids are a class of steroid hormones that are produced in the adrenal cortex of vertebrates, as well as the synthetic analogues of these hormones. Two main classes of corticosteroids, glucocorticoids and mineralocorticoids, are invo ...

leukotriene receptor antagonists An antileukotriene, also known as leukotriene modifier and leukotriene receptor antagonist, is a medication which functions as a leukotriene-related enzyme inhibitor (arachidonate 5-lipoxygenase) or leukotriene receptor antagonist ( cysteinyl leuk ...

, short-acting beta 2 agonists, long-acting beta 2 agonists, or

anticholinergic Anticholinergics (anticholinergic agents) are substances that block the action of the acetylcholine (ACh) neurotransmitter at synapses in the central nervous system, central and peripheral nervous system. These agents inhibit the parasympatheti ...

therapy is beneficial. However, there are some promising results in other approaches.

Lung transplantation Lung transplantation, or pulmonary transplantation, is a surgical procedure in which one or both lungs are replaced by lungs from a donor. Donor lungs can be retrieved from a living or deceased donor. A living donor can only donate one lung lobe ...

This was previously attempted in a patient with end-stage

lung disease The lungs are the primary organs of the respiratory system in many animals, including humans. In mammals and most other tetrapods, two lungs are located near the backbone on either side of the heart. Their function in the respiratory syst ...

secondary to WCS. Although the patient did not have proximal airway collapse prior to transplantation, his posttransplant course was complicated by the development of bronchomalacia of the right and left mainstem bronchi. The patient experienced recurrent pulmonary infections and died of

bacterial pneumonia Bacterial pneumonia is a type of pneumonia caused by bacterial infection. Types Gram-positive '' Streptococcus pneumoniae'' () is the most common bacterial cause of pneumonia in all age groups except newborn infants. ''Streptococcus pneumoniae ...

one year after transplantation. In 2012, the first WCS patient

lung transplant Lung transplantation, or pulmonary transplantation, is a surgical procedure in which one or both lungs are replaced by lungs from a donor. Donor lungs can be retrieved from a living or deceased donor. A living donor can only donate one Lobes of t ...

with prolonged survival (approaching 10 years) was reported.

Lobectomy Lobectomy means ''surgical excision of a lobe''. This may refer to a lobe of the lung (also simply called a lobectomy), a lobe of the thyroid ( hemithyroidectomy), a lobe of the brain (as in anterior temporal lobectomy), or a lobe of the liver ...

Surgery to remove part of the lungs is often considered for people with extreme damage to one or two

lobes of the lung The lungs are the primary Organ (biology), organs of the respiratory system in many animals, including humans. In mammals and most other tetrapods, two lungs are located near the Vertebral column, backbone on either side of the heart. Their ...

who are at risk of severe infection or bleeding. However, surgery in two patients, one given a triple lobectomy and the other a right upper lobectomy, resulted in severe

respiratory failure Respiratory failure results from inadequate gas exchange by the respiratory system, meaning that the arterial oxygen, carbon dioxide, or both cannot be kept at normal levels. A drop in the oxygen carried in the blood is known as hypoxemia; a r ...

Medicine

WCS is an obstructive disorder that shares some similarities with

chronic obstructive pulmonary disorder Chronic obstructive pulmonary disease (COPD) is a type of progressive lung disease characterized by chronic respiratory symptoms and airflow limitation. GOLD defines COPD as a heterogeneous lung condition characterized by chronic respiratory sy ...

(COPD). Non-invasive positive pressure ventilation (NPPV) has been reported to improve chronic respiratory failure in patients with bronchiectasis. NPPV combined with long-term home oxygen therapy decreases

carbon dioxide Carbon dioxide is a chemical compound with the chemical formula . It is made up of molecules that each have one carbon atom covalent bond, covalently double bonded to two oxygen atoms. It is found in a gas state at room temperature and at norma ...

retention and improves

dyspnea Shortness of breath (SOB), known as dyspnea (in AmE) or dyspnoea (in BrE), is an uncomfortable feeling of not being able to breathe well enough. The American Thoracic Society defines it as "a subjective experience of breathing discomfort that ...

in hypercapnic COPD. Moreover, long-term NPPV may decrease acute

exacerbation In medicine, an exacerbation is the worsening of a disease or an increase in its symptom Signs and symptoms are diagnostic indications of an illness, injury, or condition. Signs are objective and externally observable; symptoms are a person' ...

and recurrent

hospitalization A hospital is a healthcare institution providing patient treatment with specialized health science and auxiliary healthcare staff and medical equipment. The best-known type of hospital is the general hospital, which typically has an emergency ...

. There are case reports that NPPV may have an advantage in adult patients with WCS who have severe respiratory failure and recurrent pulmonary infections.

History

It was described in 1960 by Howard Williams and Peter Campbell. They described a case study of five children with similar clinical and radiological symptoms, and proposed that the abnormal development of

bronchial tree A bronchus ( ; : bronchi, ) is a passage or airway in the lower respiratory tract that conducts air into the lungs. The first or primary bronchi to branch from the trachea at the carina are the right main bronchus and the left main bronchus. Thes ...

was responsible for this presentation. In 1976, the first report of the occurrence of familial bronchiectasis in siblings was published, and it supported the theory that WCS was

congenital A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...

, based on the uniformity of the cartilaginous defect. It may have been the result of an

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

mutation, but the specific gene has not yet been identified.

References

External links

{{DEFAULTSORT:Williams-Campbell syndrome Bronchus disorders Syndromes