Kartagener Syndrome Triad
Kartagener syndrome triad
Kartagener syndrome also known as primary ciliary dyskinesia pcd is an autosomal recessive disorder caused by a dynein arm defect affecting the movement of cilia. It s autosomal recessive which means you must inherit a mutated gene from both.
Kartagener Syndrome Radiology Reference Article Radiopaedia Org
Ciliary immotility leads to the classic kartagener syndrome triad of findings.
In this disease the cilia which assisting in transporting mucus in the respiratory tract get affected and may mucous unable to move or move incorrectly. Kartagener s syndrome is a rare hereditary disease. Kartagener syndrome is characterized by p rimary ciliary dyskinesia and situs inversus totalis. Kartagener syndrome immotile cilia syndrome a trio of sinusitis bronchitis and situs inversus lateral reversal of all organs in the chest and abdomen ie heart and stomach on right liver on left etc ie opposite or inverted from their usual position.
It is suspected that visceral rotation in the embryo is dependent upon normal ciliary action hence the association between primary ciliary dyskinesia and situs inversus abnormality. Pulmonology otorhinolaryngology cardiology medical genetics primary ciliary dyskinesia pcd is a rare ciliopathic autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract lower and upper sinuses eustachian tube middle ear fallopian tube and flagellum of sperm cells. Kartagener syndrome is a type of primary ciliary dyskinesia that is characterized by triad of chronic sinusitis bronchiectasis and situs inversus totalis mirror image reversal of internal organs 1. Immotile ciliary syndrome or kartagener syndrome.
Chronic sinusitis bronchiectasis and situs inversus. Background siewert first described the combination of situs inversus chronic sinusitis and bronchiectasis in 1904. In people affected by situs inversus totalis the internal organs including the heart liver spleen and intestine are on the opposite side of the body. Normal cilia a and cilia representative of kartagener s syndrome b specialty.
Kartagener syndrome is genetic congenital disorder which affects lungs and also male reproductive organs. There may also be a link with retinitis pigmentosa and hearing loss. 1 h however manes kartagener 1 first recognized this clinical triad as a. Kartagener syndrome also known as kartagener afzelius syndrome is a subset of primary ciliary dyskinesia an autosomal recessive condition characterized by abnormal ciliary structure or function leading to impaired mucociliary clearance.
It s caused by a mutation that can occur on many different genes. Approximately half of patients with pcd have the full triad of kartagener s syndrome ks. The phrase immotile ciliary. Dr yahya baba and dr mohammed wahba et al.
Presentation1 Radiological Imaging Of Karrtegner S Syndrome
Kartagener Syndrome Multisystem Findings Radiology Case Radiopaedia Org
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