The American Journal of Medical Sciences and Pharmaceutical Research
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TYPE
Original Research
PAGE NO.
43-45
10.37547/tajmspr/Volume07Issue03-07
OPEN ACCESS
SUBMITED
03 January 2025
ACCEPTED
05 February 2025
PUBLISHED
13 March 2025
VOLUME
Vol.07 Issue03 2025
CITATION
Shamsiyeva Eleonora Rinatovna. (2025). Family Case of The Clinical Course
of Cartagener
’
s Syndrome in Children. The American Journal of Medical
Sciences and Pharmaceutical Research, 7(03), 43
–
45.
https://doi.org/10.37547/tajmspr/Volume07Issue03-07
COPYRIGHT
© 2025 Original content from this work may be used under the terms
of the creative commons attributes 4.0 License.
Family Case of The Clinical
Course of Cartagener's
Syndrome in Children
Shamsiyeva Eleonora Rinatovna
Associate Professor, Department of Children’s Diseases, Tashkent Medical
Academy, Tashkent, Uzbekistan
Abstract:
Kartagener's syndrome (KS) is a rare
hereditary disease characterized by a triad of
symptoms: primary ciliary dyskinesia, situs inversus, and
chronic respiratory infections. This article presents a
family case of KS in children, emphasizing the clinical
features, diagnostic challenges, and management
strategies. The study analyzes the genetic aspects,
pathophysiology, and progression of the disease in
affected siblings. Special attention is given to
respiratory complications, recurrent infections, and the
impact on the quality of life. Early diagnosis and
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,
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The American Journal of Medical Sciences and Pharmaceutical Research
phase contrast, light and electron microscopy, and the
radionuclide method.
The result of PCD is the formation of a chronic
inflammatory process in the respiratory tract
[1,2,3,4,5]. Another important manifestation of PCD is
a violation of the motor activity of spermatozoa (in
men) or villi of the oviduct funnel (in women), which
leads to infertility [3,5].
The disease is inherited autosomal recessively, with an
incidence rate of 1: 50,000 in the population as a whole
[2,5].
PURPOSE OF THE RESEARCH
To study is the clinical course of Kartagener syndrome
in children of the Uzbek population.
Materials and Methods
In our case, there was a clinical observation of a family
case of Kartagener syndrome. At the Tashkent Medical
Academy 1 - clinic, in the intensive care unit, in 2021, a
brother and sister with this pathology were treated.
RESULTS AND DISCUSSIONS
Boy Umarov Sh., aged 1 month, had a wet cough and
shortness of breath upon admission. It is known from
the anamnesis that the child is from the 8th pregnancy,
which proceeded against the background of the threat
of termination at 12 weeks, anemia, colpitis, edema,
uterine fibromatosis. From 3 term deliveries. Birth
weight - 2580 g, div length - 49 cm. The condition at
birth was severe due to respiratory failure, due to
which on the first day of life the boy was transferred to
the intensive care unit of the first clinic at TMA, where
artificial ventilation of the lungs was performed for 80
hours. During the examination, pneumonia was
detected on the chest X-ray. During dynamic
observation, atelectasis of the upper lobe of the left
lung was detected on the X-ray. ECHO-CS revealed VSD
(ventricular septal defect) in the muscular part 5 mm,
PFO (open oval window) - 3 mm. At the age of 1 month,
the boy was transferred to the TMA with the diagnosis:
Congenital pneumonia, severe, complicated by
atelectasis of the upper lobe of the left lung,
protracted course. Congenital heart disease: VSD in the
muscular part, primary adaptation phase. NC0 degree.
At the time of admission, an objective examination
revealed a condition of moderate severity due to
respiratory failure. Nasal breathing was difficult due to
mucous discharge. Dyspnea of a mixed nature with a
respiratory rate (RR) of 54 per minute was noted.
Percussion over the lungs noted a box shade of
pulmonary sound. On auscultation, weakened
breathing, various wet and dry wheezing rales on both
sides were heard over the lungs. The heart was
determined by percussion to be on the right. The liver
was determined by percussion to be on the left, of
normal size. During the examination, an X-ray of the
chest organs on the left revealed inflammatory
infiltration of the lung tissue, mirror rotation of the
internal organs, dextrocardia, the liver was located on
the left, and the gas bubble of the stomach was on the
right.
ECHO - CS revealed a left-formed right-located heart.
VSD in the muscular part is 5 mm, OOO - 3 mm, with left-
to-right blood shunt. Complete transposition of the
internal organs was revealed by ultrasound. Despite the
complex therapy, including inhaled glucocorticosteroids
(puli-micort) for 1.5 months after the disappearance of
lung tissue infiltration, the patient continued to have
broncho-obstructive syndrome (BOS). A differential
diagnosis was made between infectious causes of BOS,
gastroesophageal reflux, and cystic fibrosis. Cystic
fibrosis was excluded (sweat chlorides - the Macrodact
system - 47 mmol / l (No. up to 80), feces for trypsin -
positive in a dilution of 1: 160). Geneticist's conclusion:
Kartagener syndrome.
The girl Umarova B., aged 11, upon admission
complained of a wet cough with the separation of
yellow sputum, shortness of breath, nasal congestion,
and rapid fatigue. From the anamnesis it is known that
the girl was born from the 2nd pregnancy, 2 term
deliveries. According to the mother, until the age of 7,
the girl often suffered from acute respiratory viral
infections, bronchitis, nasal congestion remained
almost constantly. Since the eighth year of life,
recurrent bronchitis with an obstructive component has
been bothering her. In 20014, dextrocardia was first
detected on the ECG, and in 2021, on the chest X-ray,
the inverse arrangement of the internal organs. Since
the age of 10, the girl has been registered with an ENT
doctor with a diagnosis of Chronic rhinosinusitis. During
an objective examination, the child's condition was
assessed as moderate. Nasal breathing was difficult due
to nasal congestion. Mixed dyspnea was noted with a
respiratory rate of -22 per minute. Percussion revealed
a boxed shade of the pulmonary sound over the lungs.
Auscultation revealed weakened breathing, dry
wheezing on both sides. The heart was percussion
determined on the right. The liver was percussion
determined on the left, of normal size. During
examination, signs of bronchitis and dextrocardia were
revealed on the chest X-ray. The gas bubble of the
stomach was located on the right, and the liver on the
left. The paranasal sinus radiograph revealed signs of
bilateral sinusitis. The echocardiogram showed a left-
formed right-sided heart. The ultrasound showed
complete transposition of the internal organs.
Spirometry described signs of minimal obstruction
(prolonged expiratory time). The girl was consulted by
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The American Journal of Medical Sciences and Pharmaceutical Research
an ENT doctor with the following conclusion: Chronic
rhinosinusitis, exacerbation. Based on all of the above
examination results, the final diagnosis was:
Kartagener syndrome: Situs viscerum inversus. Primary
ciliary insufficiency. Secondary chronic obstructive
bronchitis, exacerbation. Chronic rhinosinusitis,
remission.
Both
children
received
complex,
symptomatic treatment: antibacterial, mucolytic,
bronchodilator, including inhaled corticosteroids
(pulmicort, beclazone). After discharge from the
hospital, it was recommended to continue the use of
inhaled corticosteroids for a long time. Physiotherapy,
massage and kinesitherapy were also carried out.
CONCLUSION
Thus, our observation showed the complexity of
diagnosing Kartagener's syndrome, due to the rarity of
this disease, as well as a number of errors in
conducting instrumental examination. For example,
the sticker on the radiograph is placed in such a way
that the heart is located on the left, which was
observed in this case during the examination of the girl.
It is also necessary to note the severity of the therapy
of this disease. In our case, both children had
persistent BOS, despite the long-term use of
glucocorticosteroids, against which repeated episodes
of broncho-obstruction were noted.
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