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Kartagener Syndrome ( USMLE Step 1)


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Kartagener Syndrome ( USMLE Step 1)

  1. 1. Student guide for the preparation of USMLE Step 1 Facts that might help you with your performance Good Luck!
  2. 2.  Autosomical Recesive disease  Prevalence: 1: 40,000 – 60,000  Considered to be part of Primary Ciliary Diskinesia, when situs inversus is present  Also called Immotile Cilia Syndrome  Caused by multiple mutations that encodes for the DYNEIN gen DYNEIN Motor Protein that forms the arms in the microtubule doublets, wich provides motility of cilia
  3. 3. Any defect in this protein will cause: 1.- Impaired movement of cilia: Specifically, in the Respiratory epithelium wich confers protection by the clearance of any foreing particles that enters from mouth-nose through the bronchioles 2.- Infertily: spermatic hypomotility NORMAL ABSENT OR ABNORMAL DYNEIN ARMS
  4. 4.  Genes mutated related with the presentation of this disease are:  DYNEIN AXONEMAL INTERMEDIATE CHAIN 1 (DNAI1) Mutations in the coding region of this one account for Situs Inversus totalis  DYNEIN AXONEMAL HEAVY CHAIN 5 (DNAH5)
  5. 5. 1.Chronic Sinusitis 2.Situs inversus 3.Bronchiectasis
  6. 6.  Patients may have some or all features :  Rhinosinusitis and otitis media are cardinal features  Nasal stuffines  Nasal discharge clear or purulent  Nasal polypoid hyperplasia  Middle ear effusion
  7. 7. Theory: Random distribution of internal organ during embriogenesis probably due to the absense of the ciliary activity wich is responsible for the normal distribution of the organs ( Afzelius, 1995) Clinical features: •Physical examination: auscultation of cardiac sounds on the right of the chest •Thoracic roentogram (X ray): right sided heart, aorta and gastric bubble placed on the righ also, thoracic scholiosis, Dilated bronchioles “Three in bud” sign indicative of obstructive bronchiolitis, due to a mucus plug •EKG: Negative P wave • QRS complex and T wave in lead I • right lower quadrant QRS axis •regression of QRS amplitude from V1 to V6 (as the heart is on the opposite side).
  8. 8. Def: common complication due to recurrent pulmonary infections wich destroy pulmonary parenchima and dilate bronchial walls permanently . Clinical History: Chronic productive cough (compensatory mechanism for the lack of effective mucociliary clearance. Recurrent episodes of Pneumonia or Bronchitis Coarse Rales and wheezing Low SO2 in acute episodes Bacterial cultures of lower respiratory secretions most commonly yield nontypeable H. Influenzae, S. Aureus, S. Pneumoniae and P. Aeruginosa in some older patients ( but not common as Cystic Fibrosis!!!) PULMONARY CILIA
  9. 9.  Mainly preserve pulmonary function ( preventive and profilactic management)  Pulmonary physiotherapy  Bronchodilators  Mucolytics  Nebulizations if needed  Annual Influenza vaccine  Pneumococcal vaccine  Avoid smocking  Antibiotics, intravenous or oral and continuous or intermittent, are used to treat upper and lower airway infections.  The choice of using antibiotics Depends on the results of cultures!
  10. 10.  Cystic Fibrosis  This Disease also presents with Bronchiectasis because of abnormally visced mucus and Infertility is because of absence of vasa deferens, wich results in Azospermia, not hipomotility! Eyes wide open with this facts!...  Allergic rhinitis  Adenoid hyperplasia  Allergic bronchopulmonary aspergillosisIdiopathic nasal polyposis  Inhalation of toxic substances  Postinfectious bronchiectasis  Pulmonary sequestration  Samter triad (asthma, aspirin sensitivity and nasal/ethmoidal polyposis)…  among others.
  11. 11.  Spermatozoid Respiratory Epithelium  Spermatozoid Hipomotility Deficient mucociliary clearance  Infertility Recurrent pulmonary infections
  12. 12. Kartagener Syndrome  Author Drew Miller and cols.   Primary Ciliary Dyskinesia/ Kartagener Syndrome-Clinical and Genetic Aspects  Author: Masumi Akita and cols.   Síndrome de Kartagener: Diagnóstico tardío,  Author: A. Sánchez Muñoz and cols.   Diagnóstico Prenatal de Situs Inversus  Author:Mario Paublo and cols.   Raiographic features of Kartagener Syndrome   More images and signs:   EKGKartagener Syndrome   First Aid for the Basic Sciences : Organ Systems , Tao Le and Kendall Krause