Lysosomal enzyme abnormalities in preleukaemic Sweet's disease: case report.
نویسندگان
چکیده
Quantitative and qualitative abnormalities in marrow lysosomal enzymes, suggestive of acute myeloid leukaemia, were detected in a patient with Sweet's disease and monocytosis 12 months before she presented with acute myelomonocytic leukaemia. Biochemical characterisation of blood and marrow cell extracts may help to identify those patients with Sweet's disease and other preleukaemic conditions who are most at risk of developing leukaemia.
منابع مشابه
Headache: A Presentation of Pompe Disease; A Case Report
Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme. As a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. In Pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...
متن کاملReport of Four Children with Gaucher Disease and Review of Literature
Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnos...
متن کاملGaucher’s Disease, an Unusual Cause of Massive Splenomegaly, a Case Report
Background Gaucher’s Disease (G.D.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. This enzyme is encoded by a gene on chromosome-1. Here we report a case of Gaucher’s Disease .G.D is rare in Yazd. Case reports We reported a patient that presented...
متن کاملبررسی یک مورد Mucopolysaccharidosis از نوع Maroteaux-Lamy
Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine-a-4-sulfate sulfatase (arylsulfatase B). It is inherited as an autosomal recessive trait. The most clinical manifestations are: corneal clouding, organomegaly, hernias, coarse facial features, cardiac insufficiency and skeletal abn...
متن کاملCoexistant of Fabry Disease and IgA Glomerulonephritis in a 39 year old male
Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor of Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of clinical pathology
دوره 40 1 شماره
صفحات -
تاریخ انتشار 1987