2022, Number 3
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Med Int Mex 2022; 38 (3)
Kartagener’s syndrome
Carrillo-Castro J, García-Bohórquez DE, Fajardo-Rivero JE
Language: Spanish
References: 16
Page: 708-713
PDF size: 229.11 Kb.
ABSTRACT
Background: Primary ciliary dyskinesia is a rare disease that causes ciliary motility
dysfunction with a clinical pattern that includes Kartagener’s syndrome, consisting of
chronic sinusitis, bronchiectasis and situs inversus.
Clinical case: A 19-year-old male patient, diagnosed in his neonatal stage, which
is known by the pulmonology department of a hospital in northeastern Colombia;
with severe respiratory symptoms and multiple comorbidities that have led to constant
hospital admissions and motivated a multidisciplinary intervention in order to lessen
the impact of the disease.
Conclusions: The approximate diagnosis is performed under clinical and radiological
criteria, if necessary, tests are done to complement and confirm the diagnosis.
There are no specific treatments for this disease. The case described allows us to
explore therapeutic strategies that support future cases, aimed at improving prognosis
and quality of life.
REFERENCES
Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, et al. Diagnosis,monitoring, and treatment of primary ciliary dyskinesia:PCD foundation consensus recommendations based onstate of the art review. Pediatr Pulmonol 2016; 51 (2):115-132. doi: 10.1002/ppul.23304.
Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW.Primary ciliary dyskinesia: Recent advances in diagnostics,genetics, and characterization of clinical disease. Am JRespir Crit Care Med 2013; 188 (8): 913-922. doi: 10.1164/rccm.201301-0059CI.
Kuehni CE, Frischer T, Strippoli MP, Maurer E, et al. Factorsinfluencing age at diagnosis of primary ciliary dyskinesia inEuropean children. Eur Respir J 2010; 36 (6): 1248-1258.DOI: 10.1183/09031936.00001010
Popatia R, Haver K, Casey A. Primary ciliary dyskinesia: Anupdate on new diagnostic modalities and review of theliterature. Pediatr Allergy Immunol Pulmonol 2014; 27 (2):
51-59. doi: 10.1089/ped.2013.0314.5. Carceller MA, Mata M, Milara X, Cortijo J. Discinesia ciliarprimaria. Ciliopatías. Acta Otorrinolaringol Esp 2010; 61(2): 149-159. https://doi.org/10.1016/j.otorri.2009.01.013.
Mirra V, Werner C, Santamaria F. Primary ciliary dyskinesia:An update on clinical aspects, genetics, diagnosis, andfuture treatment strategies. Front Pediatr 2017; 5: 135.doi: 10.3389/fped.2017.00135.
Mullowney T, Manson D, Kim R, Stephens D, Shah V, DellS. Primary ciliary dyskinesia and neonatal respiratory distress.Pediatrics 2014; 134 (6): 1160-1166. doi: 10.1542/peds.2014-0808.
Goutaki M, Meier AB, Halbeisen FS, Lucas JS, et al. Clinicalmanifestations in primary ciliary dyskinesia: systematicreview and meta-analysis. Eur Respir J 2016; 48 (4): 1081-1095. doi: 10.1183/13993003.00736-2016.
Yan-Wei S, Ding L, Li P. Management of primary ciliary dyskinesia/Kartagener’s syndrome in infertile male patientsand current progress in defining the underlying geneticmechanism. Asian J Androl 2014; 16 (1): 101-106. doi:
10.4103/1008-682X.122192.10. Lucas JS, Barbato A, Collins SA, Goutaki M, et al. Europeanrespiratory society guidelines for the diagnosis ofprimary ciliary dyskinesia. Eur Respir J 2016; 49 (1). DOI:10.1183/13993003.01090-2016.
Walker WT, Jackson CL, Lackie PM, Hogg C, Lucas JS. Nitricoxide in primary ciliary dyskinesia. Eur Respir J 2012; 40 (4):1024-1032. doi: 10.1183/09031936.00176111.
Lucas JS, Burgess A, Mitchison HM, Moya E, WilliamsonM, Hogg C. Diagnosis and management of primary ciliarydyskinesia. Arch Dis Child 2014; 99: 850-856. doi: 10.1136/archdischild-2013-304831.
Rogers GB, Carroll MP, Zain NM, Bruce KD, et al. Complexity,temporal stability, and clinical correlates of airwaybacterial community composition in primary ciliary dyskinesia.J Clin Microbiol 2013; 51 (12): 4029-4035. doi:10.1128/JCM.02164-13.
Altenburg J, de Graaff CS, Stienstra Y, Sloos JH, et al. Effectof azithromycin maintenance treatment on infectiousexacerbations among patients with non-cystic fibrosisbronchiectasis: the BAT randomized controlled trial. JAMA2013; 309 (12): 1251-1259. DOI:10.1001/jama.2013.1937.
Serisier DJ, Martin ML, McGuckin MA, Lourie R, et al. Effectof long-term, low-dose erythromycin on pulmonary exacerbationsamong patients with non-cystic fibrosis bronchiectasis:the BLESS randomized controlled trial. JAMA2013; 309 (12): 1260-1267. doi:10.1001/jama.2013.2290.
Prulière-Escabasse V, Coste A, Chauvin P, Fauroux B, etal. Otologic features in children with primary ciliary dyskinesia.Arch Otolaryngol Head Neck Surg 2010; 136 (11):1121-1126. doi: 10.1001/archoto.2010.183.