primary ciliary dyskinesia 37

Primary Ciliary Dyskinesia (PCD) Description

Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the tiny hair-like organs called cilia in the respiratory system. These cilia help clear mucus and debris from the airways, but in people with PCD, they do not function properly.

• Chronic Respiratory Infections: People with PCD are prone to chronic lung, ear, and sinus infections due to the impaired clearance of mucus and bacteria.
• Abnormal Organ Positioning: Some individuals with PCD may experience abnormally positioned internal organs, such as the heart or intestines.
• Respiratory Symptoms: Common symptoms include a persistent wet cough producing sputum, chronic nasal congestion, mucopurulent nasal discharge, and mouth breathing.

PCD is an inherited disorder caused by defects in the structure and/or function of cilia. It can lead to lifelong, progressive lung, sinus, and ear disease if left untreated or poorly managed.

References: * [1] Primary ciliary dyskinesia (PCD) is a rare genetic condition that can lead to chronic lung, ear and sinus infections, along with other disorders in children ... * [3] Primary ciliary dyskinesia (PCD) is a rare, inherited disorder. It affects cilia, tiny hair-like organs that help your body clear mucus. * [5] Primary ciliary dyskinesia (PCD) is a genetic condition in which the microscopic organelles (cilia) in the respiratory system do not function properly. Ciliary ... * [10] PCD causes frequent respiratory infections starting at a very early age that result in lifelong, progressive lung, sinus and ear disease. People with PCD ...

Common Signs and Symptoms of Primary Ciliary Dyskinesia

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

• Chronic Wet Cough: A persistent cough that produces sputum, which can last for four weeks or longer [1].
• Chronic Nasal Congestion: Year-round nasal congestion is a common symptom of PCD [4].
• Chronic Sinus Infections: People with PCD often experience chronic sinus infections due to the impaired clearance of mucus from the sinuses [7], [8].
• Breathing Problems: Some individuals may have breathing problems from birth, and in severe cases, it can lead to respiratory failure [6].
• Middle Ear Infections: Chronic middle ear infections are also a common symptom of PCD due to the impaired clearance of mucus from the ears [7], [8].
• Situs Inversus: A rare but possible symptom is situs inversus, where the organs in the chest and abdomen are reversed or mirrored on the opposite side [5].

It's essential to note that not everyone with PCD will experience all these symptoms, and their severity can vary from person to person.

References: [1] - Symptoms of PCD [4] - People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. [5] - A history of breathing problems in the first month of life · Situs inversus (abnormal rotation of ... [6] - Some people who have PCD have breathing problems from the moment of birth. PCD is an inherited ... [7] - Ciliary dysfunction prevents the clearance of mucous from the lungs, paranasal sinuses and middle ears. [8] - What are the signs and symptoms of primary ciliary dyskinesia? · Chronic nasal congestion · Runny nose with discharge · Chronic sinus infections · Chronic middle ...

Diagnostic Tests for Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the body's ability to remove mucus. Diagnosing PCD can be challenging, as there is no single test that can confirm the diagnosis. However, several diagnostic tests are available to help healthcare providers determine if someone has PCD.

Tests Used for Diagnosis

• Physical Exam: A physical exam is performed to determine whether medical history and symptoms are consistent with primary ciliary dyskinesia.
• Biopsy of Tissue that Contains Cilia: A tissue sample from the nose or lungs is taken and examined under a microscope to look for abnormalities in the cilia.
• Transmission Electron Microscopy (TEM): This "gold standard" diagnostic test requires a biopsy of ciliated airway tissue, usually taken by brush sample or scraping of either the nose or the trachea. TEM can identify specific ciliary ultrastructural defects.
• Positive Clinical Genetic Testing for PCD: A genetic test to determine whether someone has faulty genes that cause PCD.

Other Diagnostic Tests

• Measurement of Nasal Nitric Oxide (nNO): This is a sensitive way of diagnosing PCD, and it's recommended as part of a panel of diagnostic tests.
• Electron Microscopy Evaluation: This test can also be used to diagnose PCD by examining the internal structure of cilia using transmission electron microscopy.

Diagnostic Recommendations

The American Thoracic Society has published clinical practice guidelines for the diagnosis of primary ciliary dyskinesia. These guidelines recommend a panel of diagnostic tests, including nasal nitric oxide measurement, functional ciliary beat analysis with high speech videomicroscopy, and immunofluorescent analysis.

Key Points to Remember

• There is no single test that can confirm PCD.
• A combination of physical exam, biopsy, TEM, genetic testing, and other diagnostic tests are used to diagnose PCD.
• The American Thoracic Society has published guidelines for the diagnosis of PCD.

References:

[1] Primary ciliary dyskinesia, or PCD, is a rare genetic condition that affects the body’s ability to remove mucus. (Search result 1) [2] There is no single test that can confirm a PCD diagnosis. Evaluations include: Physical exam... (Search result 2) [3] Specific ciliary ultrastructural defects identified by transmission electron microscopy (TEM). (Search result 3) [4] Measurement of nasal nitric oxide (nNO) by chemiluminescence analyzer is recommended as part of a panel of diagnostic tests for PCD. (Search result 5) [10] The guidelines were developed by a committee of pediatric and adult pulmonologists... (Search result 12) [13] There is no ‘gold standard’ reference test. (Search result 13)

Current Drug Treatments for Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetic condition that affects the respiratory system, and there are currently no curative options available. However, various drug treatments have been explored to manage the symptoms and slow down the progression of the disease.

• Antimicrobial agents: Amoxicillin and other antimicrobial agents may be prescribed to prevent or treat infections in people with PCD [4].
• Hypertonic saline: A phase 2 study has shown promising results for idrevloride in hypertonic saline, which may help improve lung function in individuals with PCD [5].

It's essential to note that these treatments are not curative and aim to manage the symptoms of PCD. The ultimate treatment goal is to slow down the progression of the disease.

Current Treatment Goals

The primary objective of treating PCD is to maintain or improve normal lung function, as stated by the American Academy of Pediatrics [7]. This can be achieved through a combination of medications and other therapies tailored to individual needs.

Limitations and Future Directions

While some treatments have shown promise, there are still significant gaps in our understanding of PCD. Further research is needed to develop more effective treatments and potentially find a cure for this condition.

References: [4] - Amoxicillin (Trimox, Amoxil) [5] - Idrevloride in hypertonic saline [7] - Aug 1, 2022 - The aim of treatment for primary ciliary dyskinesia (PCD) is to improve or maintain your child's normal lung function.

Primary ciliary dyskinesia (PCD) can often be mistaken for other respiratory conditions, making differential diagnosis crucial for accurate diagnosis.

Conditions to consider in the differential diagnosis of PCD:

• Asthma: PCD may first be diagnosed as asthma due to similar symptoms such as wheezing and coughing. However, unlike asthma, PCD is an inherited condition that affects the cilia's ability to clear mucus from the airways [2].
• Chronic bronchitis: The chronic nature of PCD can lead it to be mistaken for chronic bronchitis, a condition characterized by persistent inflammation and irritation in the bronchi [4].
• Smoking-related COPD: PCD may also be confused with smoking-related COPD (chronic obstructive pulmonary disease) due to similar symptoms such as shortness of breath and coughing. However, unlike COPD, PCD is an inherited condition that affects the cilia's ability to clear mucus from the airways [4].
• Bronchiectasis: PCD can also be mistaken for bronchiectasis, a condition characterized by permanent dilation of parts of the airways due to chronic inflammation and infection [6].

Key factors to consider in differential diagnosis:

• Family history: Since PCD is an inherited condition, it's essential to consider family history when making a differential diagnosis. A positive family history can increase the likelihood of PCD being the correct diagnosis [2].
• Ciliary ultrastructure: Examination of ciliary ultrastructure from lung or nose tissue obtained through biopsy and/or genetic testing can definitively diagnose PCD [7].

References:

[1] Criteria used for PCD diagnosis. Confirmed biallelic pathogenic variants in PCD-associated gene or TEM hallmark ciliary ultrastructural defect ...

[2] July 6, 2024 - PCD may first be diagnosed as asthma, chronic bronchitis, smoking-related COPD, or just bronchiectasis of unknown cause.

[3] Background: This document presents the American Thoracic Society clinical practice guidelines for the diagnosis of primary ciliary dyskinesia (PCD).

[4] by AJ Shapiro · 2016 · Cited by 435 — Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting in chronic oto‐sino‐pulmonary disease in both children and ...

[5] April 25, 2014 - This is an Open Access article ... is an inherited autosomal-recessive disorder of motile cilia characterised by chronic lung disease, rhinosinusitis, hearing loss, and fertility problems.

[6] For individuals affected by primary ciliary dyskinesia (PCD), a rare genetic condition with symptoms often mistaken for common respiratory infections, diagnosis ...

[7] March 31, 2017 - Fluorescence confocal micrograph ... from different primary ciliary dyskinesia (PCD) patients) of ciliary proteins by labelling with antibodies against DNALI1 (inner dynein arm), DNAH5 (outer dynein arm) and RSPH4A (radial spoke head) in red.