کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8733486 | 1590681 | 2017 | 40 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Choroba Gauchera - zalecenia dotyczÄ
ce rozpoznawania, leczenia i monitorowania
ترجمه فارسی عنوان
بیماری گوچه - توصیه هایی برای تشخیص، درمان و نظارت
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
ایمنی شناسی و میکروب شناسی
ایمونولوژی
چکیده انگلیسی
The following recommendations are the first complete document concerning the diagnosis, treatment and monitoring of Gaucher disease (GD) in Poland. GD is a rare, genetically determined storage disorder, involving deficiency or absence of glucocerebrosidase activity, a lysosomal enzyme that digests glucosylceramide. Glucosylceramide excessively accumulates in the monocyte-macrophage system (Gaucher cells), which in turn accumulate primarily in the bone marrow, spleen and liver. In the most severe forms of the disease, central nervous system is also involved. There are three clinical types of Gaucher disease, and the primary criteria for their differentiation is the involvement of the central nervous system, and the rate of symptom progression. The least severe and most common is type 1 GD, characterised mainly by hematological manifestations, such as thrombocytopenia and anemia, splenomegaly, hepatomegaly and skeletal involvement (bone pain, bone deformities, pathological fractures). Types 2 and 3 GD involve various central nervous system manifestations. Diagnosis of Gaucher disease is difficult, particularly in individuals from families without prior GD history. Gaucher disease is characterised by a heterogenic disease course and is rarely considered in differential diagnosis. This presents a major problem, as correct diagnosis and treatment implementation are often delayed by many years. This can lead to serious complications and even premature death of the patient. Currently, the primary therapeutic approach is an enzyme replacement therapy, involving an intravenous administration of recombinant glucocerebrosidase. Treatment of mild and moderate forms of the disease also includes an oral therapy which inhibits the production of glucocerebroside.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Acta Haematologica Polonica - Volume 48, Issue 4, OctoberâDecember 2017, Pages 222-261
Journal: Acta Haematologica Polonica - Volume 48, Issue 4, OctoberâDecember 2017, Pages 222-261
نویسندگان
Piotr HasiÅski, MirosÅaw Bik-Multanowski, Magdalena Koba-WszÄdobyÅ, MieczysÅaw Walczak, Marek Bubnowski, Agnieszka Milewska-Kranc, Andrzej Smyk, Maciej Machaczka,