Abstract
Primary ciliar dyskinesia is а rare orphan disease known for its multiple and variable symptoms caused by the marked genetic heterogenity beyond. As per the abundant symptoms in pediatric patients, a frequent inflammatory diseases of both upper and lower respiratory tract segments are the key points. A Sieberth-Kartagener Syndrome is a classical form of the primary ciliary dyskinesia covered such symptoms as the reversal placement of internal organs, chronic bronchoectases, nasal cavity hypoplasia and/or sinusitis. According to some foreign research, the age mediana value estimated in Eastern and Western European countries for a “Primary Ciliary Dyskinesia” diagnosis is equal to about 5 years. A lack of early diagnosis is nothing but a direct consequence of the poor level of awareness, so common for a primary health care system. This itself leads to increased rates of patients disability. This report deals with clinical peculiarities, diagnostics and treatment details observed and administered in a primary ciliary dyskinesia (Kartagener Syndrome) patient. Noteworthy, both mother’s tough obstetric-gynecological profile and a harsh course of this particular pregnancy were indeed taken into account. Up until 11 months, this patient was subjected to a non-clinical treatment on numerous respiratory infection occasions. A “Kartagener Syndrome” diagnosis was estimated in our clinic on the basis of laboratory and instrumental tests data. Thus, the latter prove a complete reversal of internal organs placement. Further, this diagnosis was re-confirmed by histomorphological patterns revealed in the nasal epithelial biopsy study. A difficulty to come up with the Kartagener Syndrome diagnosis at the pre-hospital treatment stage is in a focus of this specific case report. Noteworthy, we have succeed with the early diagnosis of Kartagener Syndrome and then with a following efficient therapy conducted in our clinic.
Highlights
Первичная цилиарная дискинезия (ПЦД) — это генетически детерминированное заболевание, в основе которого лежат врожденные дефекты строения ресничек мерцательного эпителия респираторного тракта и аналогичных структур, приводящих к нарушению их двигательной активности [1, 2]
According to some foreign research, the age mediana value estimated in Eastern and Western European countries for a “Primary Ciliary Dyskinesia” diagnosis is equal to about 5 years
This report deals with clinical peculiarities, diagnostics and treatment details observed and administered in a primary ciliary dyskinesia (Kartagener Syndrome) patient
Summary
Кафедра факультетской педиатрии ФГБОУ ВО «Саратовский ГМУ им. В.И. КЛИНИЧЕСКИЙ СЛУЧАЙ РАННЕЙ ДИАГНОСТИКИ И ЛЕЧЕНИЯ ПЕРВИЧНОЙ ЦИЛИАРНОЙ ДИСКИНЕЗИИ (СИНДРОМА КАРТАГЕНЕРА). Классической формой первичной цилиарной дискинезии является синдром Зиверта-Картагенера, который включает в себя обратное расположение внутренних органов, хронические бронхоэктазы, гипоплазию пазух носа или синусит. Недостаточная осведомленность врачей первичного звена о данной нозологии приводит к несвоевременной постановке диагноза, что в дальнейшем способствует высокой инвалидизации пациентов. В статье приведены особенности клиники, диагностики и лечения пациента с первичной цилиарной дискинезией (синдром Картагенера). Диагноз «синдром Картагенера» был установлен в стационаре на основании клинико-лабораторных и инструментальных данных. Приведенный клинический случай демонстрирует сложность постановки диагноза «синдром Картагенера» на амбулаторном этапе. Ключевые слова: первичная цилиарная дискинезия, синдром Картагенера Для цитирования: Рыбакова И.В., Королева И.В., Хижняк А.В., Сидорович О.В., Елизарова С.Ю. АГНОСТИКИ И ЛЕЧЕНИЯ ПЕРВИЧНОЙ ЦИЛИАРНОЙ ДИСКИНЕЗИИ (СИНДРОМА КАРТАГЕНЕРА).
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