primary ciliary dyskinesia 17

Primary Ciliary Dyskinesia (PCD) Description

Primary ciliary dyskinesia, also known as PCD, is a rare genetic disorder that affects the tiny hair-like structures called cilia in the respiratory system. These cilia are responsible for moving mucus out of the body, and when they don't function properly, it can lead to chronic respiratory tract infections, abnormally positioned internal organs, and infertility.

Key Features:

• Chronic Respiratory Tract Infections: People with PCD experience frequent and persistent respiratory infections, which can worsen over time.
• Abnormal Organ Placement: The condition can cause abnormal placement of internal organs, such as the heart and lungs.
• Infertility: PCD often leads to infertility in both males and females due to the cilia's inability to move properly.

Other Symptoms:

• Nasal congestion
• Mucopurulent nasal discharge
• Nasal obstruction
• Mouth breathing and halitosis (bad breath)
• Nasal polyps

Causes and Prevalence: PCD is caused by genetic mutations that affect the structure and function of cilia. It affects approximately 1 in every 10,000 to 30,000 people worldwide.

References:

• [3] Description of primary ciliary dyskinesia
• [9] Signs and symptoms
• [11] Primary ciliary dyskinesia is caused by genetic mutations that affect the tiny hairline cilia in the lungs, nose and ears, impairing their ability to remove germs and pollutants, and allowing mucus buildup and infection.
• [13] Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction.

Symptoms of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the respiratory system and can cause various symptoms. The following are some common signs and symptoms of PCD:

• Chronic coughing: A persistent and recurring cough is one of the most common symptoms of PCD, often producing sputum [1].
• Chronic congestion: Nasal congestion and sinusitis are frequent complaints in individuals with PCD, which can lead to chronic infections [2].
• Respiratory problems: People with PCD may experience breathing difficulties, especially during infancy, due to impaired ciliary function [3].
• Situs inversus: Abnormal rotation of internal organs, such as the heart and lungs, is a rare but associated feature of PCD [4].
• Frequent infections: Impaired cilia can lead to recurrent sinus, ear, and lung infections, which can cause significant discomfort and impact quality of life [5].

It's essential to note that symptoms can vary in severity and may worsen over time. If you or a loved one is experiencing these symptoms, consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Chronic wet cough producing sputum, from infancy, that lasts for four weeks or longer [2] - Primary ciliary dyskinesia, or PCD, causes symptoms in the sinuses, ears, and lungs. [3] - Symptoms worsen, sometimes causing respiratory problems [4] - Situs inversus (abnormal rotation of internal organs) [5] - An impaired ciliary function can cause frequent sinus, ear and lung infections

Diagnostic Tests for Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare inherited disorder caused by defects in the structure and/or function of cilia. Diagnosing PCD can be challenging, as there is no single test that can confirm the condition. However, various diagnostic tests are used to evaluate patients suspected of having PCD.

Recommended Diagnostic Testing Methods

According to Table 2 (Shapiro et al., 2016), recommended diagnostic testing methods for primary ciliary dyskinesia include:

• Genetic testing: Analyzes 40 genes for disease-causing variants [1].
• Nasal nitric oxide measurement: Provides information on the function of cilia in the nasal passages [not cited, but implied by context].
• High-speed video microscopy: Evaluates the movement and structure of cilia [not cited, but implied by context].

Other Diagnostic Tests

In addition to these recommended tests, other evaluations may be performed to aid in the diagnosis of PCD. These include:

• Physical examination: To assess for signs and symptoms associated with PCD, such as respiratory problems or situs inversus [5].
• Imaging studies: Such as chest X-rays or CT scans, to evaluate lung function and identify any abnormalities [5].
• Other tests that may indicate a diagnosis of PCD, such as sweat chloride measurement or blood tests for certain genetic conditions [5].

Genetic Testing

Genetic testing is becoming increasingly important in the diagnosis of PCD. Tests like the one provided by Invitae (context result 4) can analyze 40 genes for disease-causing variants and provide information to aid in the diagnosis of PCD.

References: [1] Shapiro et al., 2016 [5] Context results 5, 7

Treatment Options for Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the functioning of cilia, tiny hair-like organs in the respiratory system. While there is no cure for PCD, various treatment options can help manage symptoms and prevent complications.

Current Treatments

• Antibiotics: Antibiotics are used to treat lung or sinus infections, which are common in individuals with PCD.
• Chest Physical Therapy (CPT): CPT involves a series of exercises and techniques to loosen and clear mucus from the lungs. This can help reduce respiratory symptoms.
• Exercise: Regular exercise can improve overall health and reduce respiratory symptoms.

New Treatment Possibilities

• Azithromycin: A phase 2 study demonstrated that continuous maintenance therapy with azithromycin reduced exacerbations of PCD by 50% and kept 60% of patients free from exacerbations.
• Idrevloride: A phase 2 study showed safety and efficacy of idrevloride with hypertonic saline for treatment of PCD.

Other Medications

• Amoxicillin: This antibiotic is sometimes used to treat respiratory infections in individuals with PCD.
• Inhaled medication: Inhaled medications, such as bronchodilators, may be prescribed to help manage respiratory symptoms.

It's essential to note that each individual with PCD may require a personalized treatment plan. Consultation with a healthcare professional is necessary to determine the best course of treatment.

References:

[2] The double-blind randomized Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia (BESTCILIA) trial demonstrated that 6 months of continuous maintenance therapy with azithromycin reduced exacerbations of primary ciliary dyskinesia by 50%. In addition, 60% of patients in the azithromycin group remained free of exacerbations.

[4] A phase 2 study, led by Thomas W. Ferkol, MD, at the UNC School of Medicine, demonstrates safety and efficacy of idrevloride with hypertonic saline for treatment of primary ciliary dyskinesia, a rare genetic disorder that can lead to permanent lung damage.

[5] Current Treatments in Primary Ciliary Dyskinesia. As there are no curative options yet, PCD treatment is directed at preventing and managing symptoms.

[7] Dec 1, 2022 — Primary Ciliary Dyskinesia Medication · Medication Summary · Antibiotics, such as amoxicillin, may be prescribed to treat respiratory infections.

[15] Primary ciliary dyskinesia (PCD) is a rare, inherited disorder. It affects cilia, tiny hair-like organs that help your body clear mucus. PCD leads to recurring, often severe respiratory infections.

Differential Diagnosis of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) can be challenging to diagnose due to its overlapping symptoms with other respiratory conditions. Here are some key differential diagnoses to consider:

• Cystic Fibrosis (CF): Like PCD, CF is a genetic disorder that affects the respiratory system and can cause chronic lung disease. However, CF is typically associated with pancreatic insufficiency and elevated sweat chloride levels.
• Immune Deficiencies: Patients with primary ciliary dyskinesia may also have underlying immune deficiencies, such as IgG subclass deficiency or common variable immunodeficiency (CVID), which can lead to recurrent infections.
• Aspiration Pneumonia: Aspiration of foreign material into the lungs can cause symptoms similar to PCD, including cough and respiratory distress. However, aspiration pneumonia is often associated with a history of gastroesophageal reflux disease (GERD) or other conditions that increase the risk of aspiration.
• Chronic Sinusitis: Chronic sinusitis can cause symptoms such as nasal congestion and discharge, which may be mistaken for PCD. However, chronic sinusitis is typically associated with inflammation and infection of the paranasal sinuses.
• Bronchiectasis: Bronchiectasis is a condition characterized by permanent dilation of the bronchial tubes, which can lead to recurrent infections and respiratory symptoms similar to PCD.

Key Clinical Symptoms in Children

In children, primary ciliary dyskinesia may present with the following key clinical symptoms:

• Year-round, wet cough starting <6 months old
• Year-round nasal congestion starting <6 months old
• Unexplained neonatal respiratory distress, >24 hours

It's essential to consider these differential diagnoses and perform a thorough diagnostic workup to confirm primary ciliary dyskinesia. This may include genetic testing, imaging studies (e.g., high-resolution computed tomography), and other diagnostic tests.

References:

[1] Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting in chronic oto-sino-pulmonary disease in both children and adults. Many physicians incorrectly diagnose PCD or eliminate PCD from their differential diagnosis due to inexperience with diagnostic testing methods. Thus far,