Student guide for the preparation of USMLE Step 1Facts that might help you with your performance Good Luck!

KARTAGENER SYNDROME

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

KARTAGENER SYNDROME

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

DYNEIN

NORMAL ABSENT OR

ABNORMAL DYNEIN ARMS

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)

GENETICS

1.Chronic Sinusitis2.Situs inversus3.Bronchiectasis

CLINICAL TRIAD

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

SINUSITIS

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).

SITUS INVERSUS

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 BronchitisCoarse 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!!!)

BRONCHIECHTASIS

PULMONARY CILIA

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!

TREATMENT AND MANAGEMENT

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.

DIFERENTIAL DIAGNOSIS

Spermatozoid Respiratory Epithelium

Spermatozoid Hipomotility Deficient mucociliary clearance

Infertility Recurrent pulmonary infections

KARTAGENER SYNDROME

Kartagener Syndrome Author Drew Miller and cols. http://journal.publications.chestnet.org/data/Journals/CHEST/21543/130.pdf

Primary Ciliary Dyskinesia/ Kartagener Syndrome-Clinical and Genetic Aspects Author: Masumi Akita and cols. http://cdn.intechopen.com/pdfs-wm/20609.pdf

Síndrome de Kartagener: Diagnóstico tardío, Author: A. Sánchez Muñoz and cols. http://zl.elsevier.es/es/revista/semergen-medicina-familia-40/sindrome-kartagener-diagnostico-tardio-90037977-cartas-al-director-2011

Diagnóstico Prenatal de Situs Inversus Author:Mario Paublo and cols. http://www.scielo.cl/scielo.php?pid=S0717-75262002000600011&script=sci_arttext

Raiographic features of Kartagener Syndrome http://radiopaedia.org/cases/kartagener-syndrome-7

More images and signs: http://seicat.org/repo/static/public/documentos/top10-toracica/Signs_in_Thoracic_Imaging.pdf

EKGKartagener Syndrome http://cardiophile.org/2009/12/kartagener-syndrome/

First Aid for the Basic Sciences : Organ Systems , Tao Le and Kendall Krause

BIBLIOGRAPHY. Pictures and full material are available at those links, Highly Recommended!!!!