Family Case of The Clinical Course of Cartagener's Syndrome in Children

Аннотация

Kartagener's syndrome (KS) is a rare SUBMITED 03 January 2025 hereditary disease characterized by a triad of ACCEPTED 05 February 2025 PUBLISHED 13 March 2025 symptoms: primary ciliary dyskinesia, situs inversus, and VOLUME Vol.07 Issue03 2025 chronic respiratory infections. This article presents a family case of KS in children, emphasizing the clinical CITATION features, diagnostic challenges, and management Shamsiyeva Eleonora Rinatovna. (2025). Family Case of The Clinical Course strategies. The study analyzes the genetic aspects, of Cartagener’s Syndrome in Children. The American Journal of Medical Sciences and Pharmaceutical Research, 7(03), 43–45. pathophysiology, and progression of the disease in https://doi.org/10.37547/tajmspr/Volume07Issue03-07 affected siblings. Special attention is given to COPYRIGHT respiratory complications, recurrent infections, and the © 2025 Original content from this work may be used under the terms impact on the quality of life. Early diagnosis and of the creative commons attributes 4.0 License. comprehensive therapeutic approaches, including airway clearance techniques and antibiotic prophylaxis, are crucial for improving long-term outcomes in children with KS. Keywords: Kartagener syndrome, situs inversus, primary ciliary insufficiency. Introduction: Kartagener syndrome (variants: Siewert- Kartagender syndrome, Kartagener syndrome) is a rare hereditary disease in humans, related to the group of ciliopathies. This syndrome is also known as Ciliary dyskinesia, primary (CILD). This syndrome was first described in 1904 by the Kyiv doctor A.K. Siewert, and later a more detailed description of this pathology and its familial forms was made by the Swedish doctor M. Kartagener in 1933. In Kartagener syndrome, there is a congenital combined malformation with a triad of symptoms (reverse arrangement of internal organs; chronic bronchopulmonary process (chronic bronchitis, pneumonia with the development of bronchiectasis); rhinosinusopathy (rhinosinusitis, nasal polyposis, recurrent otitis media) [2,3,5]. Kartagener syndrome is a common form of primary ciliary dyskinesia (PCD), which is based on structural defects of the cilia of the ciliated epithelium of the respiratory tract mucosa with the development of their immobility, which is confirmed by the saccharin test, The American Journal of Medical Sciences and Pharmaceutical Research 43 https://www.theamericanjournals.com/index.php/tajmspr The American Journal of Medical Sciences and Pharmaceutical Research phase contrast, light and electron microscopy, and the was determined by percussion to be on the left, of radionuclide method. normal size. During the examination, an X-ray of the chest organs on the left revealed inflammatory The result of PCD is the formation of a chronic infiltration of the lung tissue, mirror rotation of the inflammatory process in the respiratory tract internal organs, dextrocardia, the liver was located on [1,2,3,4,5]. Another important manifestation of PCD is the left, and the gas bubble of the stomach was on the a violation of the motor activity of spermatozoa (in right. men) or villi of the oviduct funnel (in women), which leads to infertility [3,5]. ECHO - CS revealed a left-formed right-located heart. VSD in the muscular part is 5 mm, OOO - 3 mm, with left- The disease is inherited autosomal recessively, with an to-right blood shunt. Complete transposition of the incidence rate of 1: 50,000 in the population as a whole internal organs was revealed by ultrasound. Despite the [2,5]. complex therapy, including inhaled glucocorticosteroids PURPOSE OF THE RESEARCH (puli-micort) for 1.5 months after the disappearance of To study is the clinical course of Kartagener syndrome lung tissue infiltration, the patient continued to have in children of the Uzbek population. broncho-obstructive syndrome (BOS). A differential Materials and Methods diagnosis was made between infectious causes of BOS, gastroesophageal reflux, and cystic fibrosis. Cystic In our case, there was a clinical observation of a family fibrosis was excluded (sweat chlorides - the Macrodact case of Kartagener syndrome. At the Tashkent Medical system - 47 mmol / l (No. up to 80), feces for trypsin - Academy 1 - clinic, in the intensive care unit, in 2021, a positive in a dilution of 1: 160). Geneticist's conclusion: brother and sister with this pathology were treated. Kartagener syndrome. RESULTS AND DISCUSSIONS The girl Umarova B., aged 11, upon admission Boy Umarov Sh., aged 1 month, had a wet cough and complained of a wet cough with the separation of shortness of breath upon admission. It is known from yellow sputum, shortness of breath, nasal congestion, the anamnesis that the child is from the 8th pregnancy, and rapid fatigue. From the anamnesis it is known that which proceeded against the background of the threat the girl was born from the 2nd pregnancy, 2 term of termination at 12 weeks, anemia, colpitis, edema, deliveries. According to th