کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8648110 | 1570392 | 2018 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy
ترجمه فارسی عنوان
مشخصات هیستولوژیک تغییرات احشایی در بیمار مبتلا به نوع 2 گوچر تحت درمان با جایگزینی آنزیم
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شناسی مولکولی
چکیده انگلیسی
Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase and accumulation of glucocerebroside. Three major sub-types have been described, type 2 is an acute neurological form that exhibits serious general symptoms and poor prognosis, compared with the other types. This case was a girl diagnosed with type 2 Gaucher disease at 12Â months of age who presented with poor weight gain from infancy, stridor, hypertonia, hepatosplenomegaly, trismus and an eye movement disorder. Enzyme replacement therapy (ERT) was administered, but she had frequent myoclonus and developmental regression. She needed artificial ventilation because of respiratory failure. She died at 11Â years of age. An autopsy demonstrated infiltrating CD68-positive large cells containing abundant lipids in alveoli, while in the liver, kidney and bone marrow CD68-positive cells were small and round. In the bone marrow, myelodysplastic changes were present without Gaucher cells. The infiltration of Gaucher cells in alveoli was marked, suggesting that ERT was relatively ineffective in pulmonary involvement, particularly intra-alveolar. Additional treatments are necessary to improve the neurological and pulmonary prognosis of type 2Gaucher disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Blood Cells, Molecules, and Diseases - Volume 68, February 2018, Pages 194-199
Journal: Blood Cells, Molecules, and Diseases - Volume 68, February 2018, Pages 194-199
نویسندگان
Yuko Tezuka, Mitsumasa Fukuda, Shohei Watanabe, Takeshi Nakano, Kentaro Okamoto, Kazuyo Kuzume, Yoshiaki Yano, Mariko Eguchi, Minenori Ishimae, Eiichi Ishii, Tatsuhiko Miyazaki,