Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego · 2016
[Late diagnosis of Gaucher's disease - care reports].
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Dyczko Monika, Grzywa-Celińska Anna, Barud Wojciech, Celiński Rafał, Dworzański Wojciech, Szmygin-Milanowska Katarzyna, Mosiewicz Jerzy
Аннотация
UNLABELLED: Gaucher's disease if one of the most frequent, among extremely rare, lysosomal storage diseases. It is the autosomal recessive inherited metabolic disorder, which can present in three main clinical forms. Type 1 - the most benign, in a not-neuropathic form, and types 2 and 3, both in neuropathic form, which manifest serious neurological symptoms.
AIM: The aim of the study was to draw attention to the late diagnosing of Gaucher's disease in the Polish population and to popularize the knowledge about this ultra-rare disease.
CASE REPORTS: Having analyzed the cases of our patients, we have concluded that the diagnosis of Gaucher's disease type 1 is often made with a time delay of up to several years. The lack of deeper knowledge about the disease and its symptoms among the physicians was found a main reason for this time lag. The disease is usually not taken into consideration in difference diagnosis due to its "ultra-rare" character. Furthermore, the course of the disease is usually occult with no spectacular symptoms, whereas the frequently occurring chronic weakness and bone pains are not treated as serious pathology.
CONCLUSIONS: Early diagnosis of the Gaucher's disease gives patients the chance of an appropriate, effective substitutive therapy, as well as recovery of organ disturbances.
AIM: The aim of the study was to draw attention to the late diagnosing of Gaucher's disease in the Polish population and to popularize the knowledge about this ultra-rare disease.
CASE REPORTS: Having analyzed the cases of our patients, we have concluded that the diagnosis of Gaucher's disease type 1 is often made with a time delay of up to several years. The lack of deeper knowledge about the disease and its symptoms among the physicians was found a main reason for this time lag. The disease is usually not taken into consideration in difference diagnosis due to its "ultra-rare" character. Furthermore, the course of the disease is usually occult with no spectacular symptoms, whereas the frequently occurring chronic weakness and bone pains are not treated as serious pathology.
CONCLUSIONS: Early diagnosis of the Gaucher's disease gives patients the chance of an appropriate, effective substitutive therapy, as well as recovery of organ disturbances.