Gauchers Disease: A Case Report
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2017, Vol 16, Issue 3
Abstract
Gaucher disease is the commonest lysosomal storage disorder caused due to deficiency of enzyme Glucocerebrosidase. The overall incidence is about 1: 40000. The main clinical features are organ enlargement (liver and spleen), bone marrow infiltration and skeletal involvement leading to bone pain and pathological fractures. Pancytopenia or thrombocytopenia is the commonest clinical presentation secondary to hypersplenismin type I gauchers disease. Enzyme replacement therapy (ERT) has revolutionized the treatment of Gaucher disease .Symptomatic patients of GD 1 and GD 3 merit treatment. ERT is most effective in reducing the liver and spleen size and the bone symptoms, and improving blood counts. This article describes a case of Gauchers disease in a 19 year old female patient.
Authors and Affiliations
Dr. Ketan Mhatre, Dr. S Mahore, Dr. K Bothale, Dr. A Patrikar
Keywords
Related Articles
- EP ID EP593507
- DOI 10.9790/0853-160303107110
- Views 49
- Downloads 0
Versatality of Mandibular Premolar Extraction Forcep
Several extraction techniques exist for extraction of upper premolar teeth, but proper selection of an appropriate instrument and technique requires understanding of the impact of manipulating the basic principles of ext...
Hypohidrotic ectodermal dysplasia And keratoconus : A rare association.
Ectodermal dysplasia is a hereditary disease characterized by dysplasia of tissues of ectodermal origin. Hypohidrotic ectodermal dysplasia(HED) is the most common type which presents with typical facial features. Ocular...
To Study Clinicopathological Correlation of Ki67 in Invasive Breast Cancer
Introduction- Ki67 expression is a biomarker for proliferation. Expression of ki 67 and its Association with other prognostic factors in breast cancer is recognised significantly. Aim-(1) To classify breast cancer on the...
Retrospective Study of Angiographic Features in Tao
.
A Study of Knowledge and Attitude of Expectant Fathers Regarding Breast Feeding
INTRODUCTION: A father’s knowledge and attitude towards exclusive breastfeeding are very important factors that contribute to the success of exclusive breastfeeding practices. MATERIALS AND METHODS: A descriptive cross s...