DISCUSSION
FIGURE 2
Electromicroscopy of nasopharyngeal biopsy demonstrating absence of inner and outer dynein arms in some microtubules and disruption of spokes , indicating axonal disorganization .
PCD , previously called immotile cilia syndrome , is a heterogeneous genetic abnormality of cilia with varying morphologies . The inheritance pattern is commonly autosomal recessive , explaining the rarity of this disorder with a prevalence of 1:10,000 , 1 but other inheritance patterns , such as X-linked recessive , are common as well . There is not much available literature to give an average age of diagnosis in adults with this disorder given that most cases are diagnosed in childhood , making it essential that physicians recognize that this disorder can remain unrecognized and be diagnosed in adulthood as well . For children , a prevalence rate as high as 5 % in patients with chronic respiratory tract infections has been reported , 2 as included in the work of Horani and Ferkol . 3 Over 50 genes are involved , with specific
alleles determining which type of abnormality and what percentage of cilia are affected . PCD can present in several ways , such as infertility due to immotile sperm in males and defective cilia in the fallopian tubes of females . Affected patients may experience recurrent upper and lower respiratory infections and have situs inversus or dextrocardia , 4 the two defining features of the subtype Kartagener syndrome . Normal cilia have either a 9 + 2 ( 9 microtubule doublets surrounding a central pair ) or 9 + 0 ( no central pair ) arrangement . 5 Physiologically , immotile cilia do exist in the body , so presentation and severity of disease is based on the percentage of cilia involved . The traditional presentation of PCD is shortness of breath , cough productive of yellow sputum , chest pain , hemoptysis , and recurrent bronchitis with sinusitis . If advanced , pneumothorax or ruptured bronchioles may be present . Rhinosinusitis is a cardinal feature , predominantly affecting the maxillary and ethmoidal sinuses .
Treatment for PCD is predominantly supportive . Patients are advised to avoid agents , such as alcohol and caffeine , that will cause dehydration and therefore increase mucus viscosity . Airway hydration can be maintained through nebulized hypertonic saline or mannitol . 6 Patients with PCD and chronic symptoms are also advised to start taking a bronchodilator with a mucolytic to aid in mucus clearance due to the impaired ciliary escalator — the hallmark of the disease . Exacerbation of symptoms and acute infections caused by the syndrome should be treated with antibiotics , while monitoring sputum cultures and gram stain . Antibiotics commonly used for acute flares are amoxicillin , sulfonamides , trimethoprim , and respiratory fluoroquinolones . These antibiotics cover bacteria that commonly cause serious infections in patients with bronchiectasis . For frequent exacerbations , it is recommended to rotate antibiotics with prophylactic treatment for 3-6 months . It is sometimes recommended to start chest wall oscillation therapy three times per day with a vibrating vest to loosen mucus . 6 For recurrent sinusitis specifically , patients can be treated with saline nasal spray , inhaled steroids , and antibiotics . 1
Having PCD on the differential diagnoses list , along with cystic fibrosis , is essential for patients with vague and varying presentations of recurrent rhinosinusitis , frequent episodes of pneumonia throughout their lifetime and multiple courses of antibiotics and steroids with minimal improvement . While there is no definitive cure for this disorder , recognizing the presence of the disease and treating supportively as appropriate can prevent the progression to bronchiectasis , which will only lead to further complications later in life .
CONCLUSION
A 75-year-old patient diagnosed with PCD was presented . The heterogeneity of PCD makes it a diagnosis that may be overlooked as highlighted in our patient . This diagnosis should be considered in patients of all ages who present with recurrent sinusitis or lower airway infections refractory to frequent courses of antibiotics , with evidence of bronchiectasis on imaging .
REFERENCES
1 . Lucas JS , Burgess A , Mitchison HM , Moya E , Williamson M , Hogg C . Diagnosis and management of primary ciliary dyskinesia . Archives of Disease in Childhood . 2014 ; 99 ( 9 ), 850-856 . doi : 10.1136 / archdischild-2013-304831
2 . Chapelin C , Coste A , Reinert P . Incidence of primary ciliary dyskinesia in children with recurrent respiratory diseases . Ann Otol Rhinol Laryngol . 1997 ; 106 ( 10 ) 854-858 .
3 . Horani A , Ferkol TW . Advances in the genetics of primary ciliary dyskinesia : clinical implications . Chest . 2018 ; 154 ( 3 ), 645- 652 . doi : 10.1016 / j . chest . 2018.05.007
4 . Bukowy-Bieryllo Z , Witt M , Zietkiewicz E . Perspectives for primary ciliary dyskinesia . International Journal of Molecular Sciences . 2022 ; 23 ( 8 ), 4122 . doi : 10.3390 / ijms23084122
5 . Dawe HR , Farr H , Gull K . Centriole / basal body morphogenesis and migration during ciliogenesis in animal cells . Journal of Cell Science . 2007 ; 120 ( Pt 1 ), 7 – 15 . doi : 10.1242 / jcs . 03305
6 . Visser SK , Bye P , Morgan L . Management of bronchiectasis in adults . Medical Journal of Australia . 2018 ; 209 ( 4 ), 177- 183 . doi : 10.5694 / mja17.01195
West Virginia Medical Journal • June 2024 • 15