Primary Ciliary Dyskinesia ( Pcd )

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Primary Ciliary Dyskinesia (PCD) is a rare, heterogeneous and largely autosomal recessive disorder. The disease can be caused by different genetic mutations that will result in the same genetic disorder. Currently, there are more than 20 genes with mutations that can cause PCD. In order for the patient to develop this congenital disorder, two copies of the mutated gene, one from each parent, must be present. Abnormal characteristics include both the function of the motile cilia and the structure, although the structure may also be normal (Boon et al.). The cilia in the airway do not move the mucus out and this causes infections due to the mucus accumulation. Another component of this disease is upper and lower respiratory tract infections.…show more content…
Patients are being misdiagnosed due to the fact that their symptoms are common and that they are found in other conditions. PCD is often diagnosed late even though the disease is present during birth. Common symptoms of this disorder include rhinorrhea, chronic productive cough, rhinosinusitis, inflammation of the middle ear and prolonged discharge from the ear. Most patients will have extra testing done to rule out similar respiratory conditions, such as a sweat test and serum immunoglobin measurements. Symptoms or conditions that suggest PCD are situs abnormalities, positive family history, idiopathic bronchiectasis, agenesis of one or both sinuses, male infertility, ectopic pregnancies and, diagnosis in other family members, (Bush & Hogg). According to the PCD Foundation, there are about 400,000 people worldwide with PCD and an estimated 25,000 in the United States. The PCD foundation states that very few patients have been identified due to the fact of the difficulty in diagnosing the disorder. Knowles et al. indicated that “the prevalence of PCD in the United States is difficult to determine largely due to inadequacies of diagnostic measures. There are fewer than 1,000 patients in the United States with a well established diagnosis of PCD”. In relation to race, ethnicity, heritage or gender there is no identifiable at risk group (PCD Foundation). There are prevalent features that should alert clinicians

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