Case Report 


Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition

Rahul Tandon, Rajesh Naranbhai Pankhaniya, Nishant Dharsandia, Megha Anant.

Abstract
Gaucher’s disease is an autosomal recessive systemic lysosomal storage disorder, characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of deficiency of lysosomal acid beta-glucosidase(glucocerebrosidase). It is a rare genetic disorder and the most common among lysosomal storage disorders. Accumulation of glucocerebroside in tissues leads to multisystem organ involvement viz. liver, spleen, bone marrow, lungs, and central nervous system. It is common in Ashkenazi Jews but rare in India. Gaucher’s disease is a slowly progressive multisystem disease so it is difficult to diagnose early as it can be confused with so many differential diagnoses like hemolytic anemia, hematological malignancies, and chronic liver disease with portal hypertension. Detailed history, complete examination, and basic laboratory investigations are of prime importance to diagnose Gaucher’s disease early.

Key words: Ashkenazi Jews, Glucocerebrosidase, lysosomal storage disorders


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Rahul Tandon
Articles by Rajesh Naranbhai Pankhaniya
Articles by Nishant Dharsandia
Articles by Megha Anant
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

Tandon R, Pankhaniya RN, Dharsandia N, Anant M. Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition. JHSPE. 2022; 2(1): 24-27. doi:10.5455/jhspe.20220929030219


Web Style

Tandon R, Pankhaniya RN, Dharsandia N, Anant M. Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition. https://www.jhspe.in/?mno=118300 [Access: December 05, 2023]. doi:10.5455/jhspe.20220929030219


AMA (American Medical Association) Style

Tandon R, Pankhaniya RN, Dharsandia N, Anant M. Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition. JHSPE. 2022; 2(1): 24-27. doi:10.5455/jhspe.20220929030219



Vancouver/ICMJE Style

Tandon R, Pankhaniya RN, Dharsandia N, Anant M. Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition. JHSPE. (2022), [cited December 05, 2023]; 2(1): 24-27. doi:10.5455/jhspe.20220929030219



Harvard Style

Tandon, R., Pankhaniya, . R. N., Dharsandia, . N. & Anant, . M. (2022) Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition. JHSPE, 2 (1), 24-27. doi:10.5455/jhspe.20220929030219



Turabian Style

Tandon, Rahul, Rajesh Naranbhai Pankhaniya, Nishant Dharsandia, and Megha Anant. 2022. Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition. Journal of Health Sciences and Professions Education, 2 (1), 24-27. doi:10.5455/jhspe.20220929030219



Chicago Style

Tandon, Rahul, Rajesh Naranbhai Pankhaniya, Nishant Dharsandia, and Megha Anant. "Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition." Journal of Health Sciences and Professions Education 2 (2022), 24-27. doi:10.5455/jhspe.20220929030219



MLA (The Modern Language Association) Style

Tandon, Rahul, Rajesh Naranbhai Pankhaniya, Nishant Dharsandia, and Megha Anant. "Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition." Journal of Health Sciences and Professions Education 2.1 (2022), 24-27. Print. doi:10.5455/jhspe.20220929030219



APA (American Psychological Association) Style

Tandon, R., Pankhaniya, . R. N., Dharsandia, . N. & Anant, . M. (2022) Importance of newer molecular test for diagnosis of Gaucher disease, a rare condition. Journal of Health Sciences and Professions Education, 2 (1), 24-27. doi:10.5455/jhspe.20220929030219