EARLY DIAGNOSIS AND TREATMENT IN PATIENT WITH A PRIMARY CILIARY DYSKINESIA (KARTAGENER SYNDROME): CASE REPORT
| Autor: | I. V. Rybakova, I. V. Koroleva, A. V. Khizhniak, O. V. Sidorovich, S. Iu. Elizarova |
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| Jazyk: | ruština |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Архивъ внутренней медицины, Vol 8, Iss 4, Pp 313-316 (2018) |
| Druh dokumentu: | article |
| ISSN: | 2226-6704 2411-6564 |
| DOI: | 10.20514/2226-6704-2018-8-4-313-316 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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