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Kartagener's Syndrome by I Made Nudi Arthana

By NeoDie , 12 January, 2025

Kartagener's Syndrome

Kartagener Syndrome (KS) is disease genetics recessive autosomal which accounts for about 50% of primary ciliary dyskinesia (PCD) cases. Because it is accompanied by various complications, PCD/KS greatly affects the quality patient's life. Syndrome This rare And First time described by Siewert on in 1904; however, Kartagener recognized the clinical syndrome in 1933. This syndrome includes the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Camner et al. first suggested ciliary dyskinesia as the cause of this syndrome in 1975. In 1977, Eliasson et al. first coined the term "immotile cilia syndrome" to categorize infertility with chronic sinopulmonary infection. 1,2 Normal ciliary function is essential for respiratory host defense and sperm motility, as well as ensuring proper visceral orientation during embryogenesis. In Kartagener syndrome, mutations in the DNAI1 and DNAH5 genes cause impaired ciliary motility, which predisposes to recurrent sinopulmonary infections, infertility, and left-right body orientation errors. 1.2 Clinical manifestations the most common is bronchitis recurrent, pneumonia, and sinusitis. Situs inversus is present in 50% of patients with ciliary dyskinetic syndrome. The triad of this syndrome, namely situs inversus, chronic sinusitis, and bronchiectasis, is called Kartagener's syndrome. which is a subgroup of ciliary dyskinesia primary. The incident reported One from 20,000-40,000 person. Syndrome Dyskinetic cilia have also been associated with infertility in men and decreased fertility in women. Therapeutic approaches to PCD/KS aim to improve prevention, facilitate diagnosis definitive Which fast, avoid error diagnosis, maintain treatment active, control infection And delay the development of lesions. 2,3 Recurrent otitis media is a common manifestation of primary ciliary dyskinesia. Examination may reveal tympanic membrane retraction with mobility. Which bad or No There is And effusion ear middle. Testing more Advanced diagnosis usually shows flat tympanograms and bilateral conductive hearing loss due to thick middle ear effusions. Many patients undergo repeated tympanostomy tube placement, often complicated by chronic suppurative otitis media. Otologic disorders associated with primary ciliary dyskinesia include tympanosclerosis, cholesteatoma, and keratosis obturans. 1 Keratosis obturation is accumulation desquamation layer epidermis keratin in the external acoustic meatus (EAC), pearly white in color, can form lump And cause disturbance senses touch And hearing. This disease does not affect the MAE cartilage, usually these lesions are limited to the MAE, without causing decay bone. membrane The tympanic membrane appears normal, but is usually thick or retracted. 11,12 Keratosis obturans is a rare disease, whereas the incidence of cholesteatoma is MAE estimated The same with 1000 case otological new and every case There is Keratosis obturation is disease Which seldom occurs, while the frequency of MAE cholesteatoma is estimated to be equal to 1000 otological cases new And every case there is four or five case keratosis obturans. Keratosis obturans often occurs at a young age. 11,12 Etiology keratoses obturation No known, although can due to by chronic hyperemia that increases keratin desquamation and epidermal debris formation. Other theories may be caused by eczema, seborrheic dermatitis, furunculosis, and abnormal epithelial migration, sometimes even associated with chronic bronchiectasis and sinusitis. Keratosis obturans and MAE cholesteatoma are two different clinical conditions and pathological features in a way clinical. Treatment keratosis obturation is with MAE cleaning in a way regular And therapy topical, whereas cholesteatoma MAE generally require surgical intervention.12,13

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  • Kartagener's Syndrome by I Made Nudi Arthana
Kartagener's Syndrome by I Made Nudi Arthana

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Fri, 12/13/2024 - 05:46

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