絞り込み

16643

広告

Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.

著者 Mazher W , Ali J , Abubakar S , Basar S , Murtaza G
J Ayub Med Coll Abbottabad.2018 Jul-Sep ; 30(3):479-481.
この記事をPubMed上で見るPubMedで表示
この記事をGoogle翻訳上で見る Google翻訳で開く

スターを付ける スターを付ける     (82view , 0users)

Full Text Sources

Medical

Gaucher's disease is the most common lysosomal storage disease which occurs due to a deficiency of the enzyme glucocerebrosidase. This enzyme deficiency leads to accumulation of glucocerebrosidase in the cells of macrophage-monocyte system. It is inherited as an autosomal recessive mutation and has three clinical subtypes. The disease presents with anaemia, hepatosplenomegaly, skeletal disorders and organ dysfunction. We present the case of an 18- month old male child who had presented to Civil Hospital, Karachi with fever, progressive pallor, abdominal distention for 6 months and was diagnosed as a case of type 1 Gaucher's disease on the basis of low leukocyte glucocerebrosidase activity, raised plasma chitotriosidase and the presence of Gaucher cells on bone marrow biopsy. The disease was treated with Intravenous replacement of the enzyme Imiglucerase (cerezyme) and the patient was followed. An informed Consent of the parents was taken prior to the writing of the manuscript.
PMID: 30465391 [PubMed - in process]
印刷用ページを開く Endnote用テキストダウンロード