<strong>Chest</strong> & <strong>Heart</strong> Journal Vol. <strong>35</strong>, <strong>No</strong>.-2, July <strong>2011</strong>established the agenesis <strong>of</strong> frontal sinuses <strong>and</strong>sphenoid sinuses along with chronic maxillarysinusitis (Figure-3 & 4). ECG, echo, ABG revealedthat the patient compensated type –II respiratoryfailure with cor pulmonale.Fig.-1: Patient’s pictureFig.-4: CT scan <strong>of</strong> paranasal sinuses - agenesis <strong>of</strong>frontal sinuses with chnonic sinusitis maxillary.Fig.-2: <strong>Chest</strong> x-ray P/A view - bilateralbronchiectasis with dextocardia.Fig.-5: CT scan <strong>of</strong> paranasal sinuses - agenesis <strong>of</strong>sphenoid sinuses.So the history, clinical examination <strong>and</strong>investigations confirmed the case as a Primaryciliary dyskinesia. <strong>The</strong> individual phenotypicallyis a case <strong>of</strong> Kartagenar’s syndrome as there isconclusive evidence <strong>of</strong> sinusitis, bronchiectasis <strong>and</strong>situs inversus, although we didn’t able to carryout the genetic testing <strong>and</strong> electron microscopicexamination to see the ciliary movement.Fig.-3: CT scan <strong>of</strong> chest - extensive bronchiectasisin all lobes.Discussion:Primary ciliary dyskinesia (PCD) is a geneticdisease, autosomal recessive genetic disorder,136
A Man with Chronic Cough – Evaluated As Kartagenar’s SyndromeMK Uddin et al.associated with defective ciliary structure <strong>and</strong>function <strong>and</strong> characterized by chronic oto-sinopulmonarydisease 1, 2 . Situs inversus occursr<strong>and</strong>omly in approximately 50% <strong>of</strong> subjects withPCD 3, 4 . <strong>The</strong> prevalence is estimated atapproximately 12,000 to 17,000, as extrapolatedfrom radiographic studies in <strong>No</strong>rway <strong>and</strong> Japaninvolving situs inversus in association withbronchiectasis, though precise figures for theUnited States are lacking 5, 6 . Diagnosis relies ona combination <strong>of</strong> clinical evaluation <strong>and</strong> electronmicroscopic analysis <strong>of</strong> ciliary ultra structure <strong>and</strong>may be difficult to establish in some subjects 7–9 .Diagnostic delay leading to inadequate therapy mayresult in poorer outcomes for patients with PCD<strong>and</strong> that is happened to this particular case. 10 .Kartagener’s syndrome is a variety <strong>of</strong> primaryciliary dyskinesia where the clinical triad <strong>of</strong> Situsinversus, Bronchiectasis, Pan-sinusitis existstogether. Primary ciliary dyskinesia, also knownas immotile ciliary syndrome is a rare, ciliopathic,autosomal recessive genetic disorder that causesa defect in the action <strong>of</strong> the cilia lining therespiratory tract (lower <strong>and</strong> upper, sinuses,Eustachian tube, <strong>and</strong> middle ear) <strong>and</strong> fallopiantube. <strong>The</strong> classic symptom combination associatedwith PCD was first described by A. K. Zivert in1904.Kartagener published his first report on thesubject in 1933. 11-15 Situs inversus incidence: 1:8000-24000 live birth. Situs inversus occursr<strong>and</strong>omly in half the patients with primary ciliarydyskinesia; therefore, for every patient withKartagener’s syndrome, another patient hasprimary ciliary dyskinesia but not situsinversus.PCD is a genetically heterogeneousdisorder affecting motile cilia 17 which are madeup <strong>of</strong> approximately 250 proteins. 18 Around 90% 19<strong>of</strong> individuals with PCD have ultra structuraldefects affecting protein(s) in the outer <strong>and</strong>/or innerdynein arms which give cilia their motility, withroughly 38% 19 <strong>of</strong> these defects caused by mutationson two genes, DNAI1 <strong>and</strong> DNAH5, both <strong>of</strong> whichcode for proteins found in the ciliary outer dyneinarm.Ciliary dysfunction (partial or complete absence <strong>of</strong>dyenin arm) causes failure <strong>of</strong> normal embryonicrotation. Patients with PCD bronchiectasis developmuch slower than CF due less mucus hypersecretion & airway plugging. Bronchiectasis occursdue to recurrent lower respiratory tract infection,which is therefore acquired; because <strong>of</strong> delay inthe removal <strong>of</strong> infected material from thebronchi. 16 Classical patients develop severebronchiectasis in 3rd & 4th decade. <strong>The</strong> otherclinical features are infertility, Cough & recurrentotitis media, Recurrent fever, hemoptysis, digitalclubbing & cyanosis, deafness (conductive hearingloss).Diagnosis depends on phenotypical clinicalpresentation along with Microscopic examination<strong>of</strong> nasal scrapings for ciliary movement, ciliary beatfrequency <strong>and</strong> examination <strong>of</strong> ciliary ultrastructure. <strong>The</strong> diagnosis should be considered inany patient with a history <strong>of</strong> recurrent upper <strong>and</strong>lower respiratory tract infection since childhood<strong>and</strong> can be regarded as established if I) the features<strong>of</strong> Kartagener’s syndrome are present II ) an adultmale gives a consistent respiratory history <strong>and</strong> isfound to have immotile live sperm or III) a womanor child gives a consistent respiratory history <strong>and</strong>has a sibling with kartagener’s syndrome or hasconsistent ultra structural defects on a nasal orbronchial epithelial brush biopsy. 20 Nasal NO hasbeen reported to be low in PCD 13–15, 17, 21 . Insummary, PCD may be diagnosed using acombination <strong>of</strong> a careful clinical history togetherwith an examination <strong>of</strong> ciliary structural analysis<strong>and</strong> measures <strong>of</strong> nasal NO. Ciliary ultra structure<strong>and</strong> functional studies may appear normal in someinstances, despite a strong phenotype otherwise.Conversely, PCD may be excluded if the phenotypeis very weak (absence <strong>of</strong> lifelong oto-sinopulmonarydisease) with normal nasal NO levels.Electron microscopy (EM) <strong>of</strong> ciliated epithelium iswidely used to diagnose primary ciliary dyskinesia(PCD). Ciliary beat frequency (CBF) has been usedto screen samples to determine whether EM isindicated. Beat pattern analysis has been advocatedas an additional diagnostic test24, 25Wendy A. St<strong>and</strong>ard ET el showed in their study,upon 371 suspected primary ciliary dyskinesiapatients, the use <strong>of</strong> ciliary beat frequency alone toscreen which biopsies should have EM will resultin a significant number <strong>of</strong> missed diagnoses. Ciliarybeat pattern analysis is a more sensitive <strong>and</strong>specific test for PCD with higher positive predictivevalues <strong>and</strong> negative predictive values 25 .Treatment <strong>of</strong> kartagener’s syndrome is supportive<strong>and</strong> to delay the complication along with137
- Page 3 and 4:
THE CHEST & HEART ASSOCIATION OF BA
- Page 5 and 6:
Chest & Heart JournalVol. 35, No. 2
- Page 7 and 8:
Instruction to Authors About Unifor
- Page 9 and 10:
Chest & Heart JournalVol. 35, No. 2
- Page 11 and 12:
Assessment of Diagnostic Value of C
- Page 13 and 14:
Assessment of Diagnostic Value of C
- Page 16 and 17:
Chest & Heart Journal Vol. 35, No.-
- Page 18 and 19: Chest & Heart JournalVol. 35, No. 2
- Page 20 and 21: Chest & Heart Journal Vol. 35, No.-
- Page 22 and 23: Chest & Heart Journal Vol. 35, No.-
- Page 24 and 25: Chest & Heart Journal Vol. 35, No.-
- Page 26 and 27: Chest & Heart Journal Vol. 35, No.-
- Page 28 and 29: Chest & Heart Journal Vol. 35, No.-
- Page 30 and 31: Chest & Heart Journal Vol. 35, No.-
- Page 32 and 33: Chest & Heart Journal Vol. 35, No.-
- Page 34 and 35: Chest & Heart Journal Vol. 35, No.-
- Page 36 and 37: Chest & Heart Journal Vol. 35, No.-
- Page 38 and 39: Chest & Heart Journal Vol. 35, No.-
- Page 40 and 41: Chest & Heart Journal Vol. 35, No.-
- Page 42 and 43: Chest & Heart Journal Vol. 35, No.-
- Page 44 and 45: Chest & Heart Journal Vol. 35, No.-
- Page 46 and 47: Chest & Heart Journal Vol. 35, No.-
- Page 48 and 49: Chest & Heart Journal Vol. 35, No.-
- Page 50 and 51: Chest & Heart Journal Vol. 35, No.-
- Page 52 and 53: Chest & Heart JournalVol. 35, No. 2
- Page 54 and 55: Chest & Heart Journal Vol. 35, No.-
- Page 56 and 57: Chest & Heart Journal Vol. 35, No.-
- Page 58 and 59: Chest & Heart Journal Vol. 35, No.-
- Page 60 and 61: Chest & Heart Journal Vol. 35, No.-
- Page 62 and 63: Chest & Heart Journal Vol. 35, No.-
- Page 64 and 65: Chest & Heart JournalVol. 35, No. 2
- Page 66 and 67: Chest & Heart Journal Vol. 35, No.-
- Page 70 and 71: Chest & Heart Journal Vol. 35, No.-
Change language