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
Related Articles
- EP ID EP557218
- DOI 10.9790/0853-1803122125.
- Views 52
- Downloads 0
Comparative study of intravenous ondansetron and intrathecal fentanyl for prevention of perioperative nausea and vomiting during caesarean delivery under spinal anaesthesia with hyperbaric bupivacaine.
Objectives: Some earlier studies has highlighted the analgesic potentiating effects of intrathecal fentanyl hydrochloride while some recent studies have focused on the effects of decreasing post operative nausea and vomi...
Utilization of Dental Health Care Services among 12 Year School Going Children of Nellore City, Andhra Pradesh, India- Across Sectional Study
Introduction: Good oral health help us to ensure the over all health and well being. In order to improve the oral health outcomes an adequate use of health services and factors predictive of this behaviour is essential....
Management of C-shaped root canal configuration with three different obturation techniques:-3 Case Reports
A C-shaped canal with varying configuration is commonly observed in single-rooted mandibular second molars. Cooke and Cox (1979) first documented the C-shaped canal in endodontic literature. The presence of high incidenc...
A Randomized Control Study to Compare the Efficacy of Carbonated Lignocaine with Lignocaine Hydrochloride in Mandibular Nerve Blocks: A Pilot Study
Aim: To compare the efficacy of carbonated lidocaine with lidocaine hydrochloride in relation to the pain, onset of anesthesia and duration in mandibular nerve blocks Materials and method: Patients in the age group of 18...
Smile Correction of A Patient with Missing Central Incisor: Case Report
A smile is a gateway to success. Early extraction of a permanent tooth at the aesthetic zone is a common problem. This resulted in teeth asymmetry and drifting of adjacent teeth. The following case presentation illustrat...