Unexplained Recurrent Upper and Lower Respiratory Tract Infections in Otherwise Young Healthy Male

Abstract

INTRODUCTION: Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome or Kartagener Syndrome (KS), is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube, and also of the flagella of sperm in males. There is no statistics for the prevalence of this disease in the Saudi population. We presented the case of this geneticaly transmitted rare disorder in a saudi male. CASE PRESENTATION: We present a case of a 19 year old saudi male patient with PCD whose chief complaint is recurrent respiratory symptoms of cough, dark sputum expectoration.past medical history is positive childhood repeated respiratory infections, and nasal symptoms of dryness, congestion, and repeated sinus infections.the patient used several antibiotics, and nasal decongestants, as well as anti histamines , and nasal steroid sprays.his family history is significant for similar complaints in his 7 year old sister, and an aunt who is married for 15 years without children, and diagnosed with bronchiectasis, and had several episodes of hemoptysis. No elicit drugs used.He is Aa college student without significant environmental or occupational toxic exposure, he has no pets, and has not travelled outside of his home town since he was 15.On physical examination , he was afebrile, BP 127/ 76, HR 74, BMI 27, Oxygen saturation 96%.on room air, he was comfortable without respiratory distress, or chest deformities, he had left lower lobe crackles with faint end inspiratory wheezing, he had no clubbing, or cyanosis. His cardiovascular examination is within normal, he had no joint, eye, or skin changes.His laboratory work revealed mild elevation of CRP, and ESR. The rest of laboratory work was unremarkable. Both chest x-ray and HRCT of the chest showed bilateral lower lobe bronchiectasis, pulmonary function test revealed mild restrictive pattern. Semen analysis showed abnormal motility of sperms. CT of the sinuses showed opacification of the maxillary and ethmoid sinuses on the right. No airway biopsy was taken. The patient was counseled, and deferred to fertility clinic for further workup and education. DISCUSSION: The classic symptom combination associated with PCD was first described by A. K. Zivert[11] in 1904, while Kartagener published his first report on the subject in 1933.This disease is genetically inherited. Structures that make up the cilia including inner and/or outer dynein arms, central apparatus, radial spokes, etc. are missing or dysfunctional and thus the axoneme structure lacks the ability to move.PCD is a genetically heterogeneous disorder affecting motile cilia[4] which are made up of approximately 250 proteins.[5] Around 90%[6] of individuals with PCD have ultrastructural defects affecting protein(s) in the outer and/or inner dynein arms which give cilia their motility, with roughly 38%[6] of these defects caused by mutations on two genes, DNAI1 and DNAH5, both of which code for proteins found in the ciliary outer dynein arm. Our patient did not have dextrocardia or total reversal of organs, but did have the evidence of chronic sinusitis and bronchiectatic changes, with a strong positive family history, which was very helpful in making the diagnosis of this rare condition. CONCLUSIONS: This a case that demonstrates the importance of taking comprehensive history from patiens including family history in order to giagnose rare diseases which can help avoid many unnecessary tests and invasive diagnostic workup.