Study of Clinical Spectrum and Enzyme Replacement EffectinGaucher’s disease: Series of 7 Cases
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2019, Vol 18, Issue 3
Abstract
Introduction: Gaucher’s disease is a rare disease with autosomal recessive inheritance. Increased awareness with advent of availability of diagnostic facilities & enzyme replacement therapy for this disease has led to its early diagnosis even in our centre. The purpose of this study was to highlight the clinical features andtreatment challenges observed in our institute. Material and methods: A retrospective study of total 7 cases of Gaucher’s Disease was done with cataloguing of their clinical features, method of diagnosis, response to treatment and difficulties in the management. Results: Gaucher’s Disease type 1 was the most common finding with abdominal distension as the most common presenting feature with progression to bone marrow involvement.Two siblings were recorded in one family was found. One patient had undergone splenectomy without much relief. Enzyme replacement therapy was initiated in two of the patients showed marked improvement in systemic features. Treatment could not be started in 5 cases due to various constraints.
Authors and Affiliations
Dr. Amar verma, Dr. Rani Manisha, Dr. M. Verma, Dr. Sunanda Jha, Dr. Priyanka
Keywords
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- EP ID EP557218
- DOI 10.9790/0853-1803122125.
- Views 43
- Downloads 0
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