Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1

ConclusionThe use of ERT with imiglucerase 60 mg/kg every two weeks has substantial benefits and significantly improves QoL, assessed with Lansky Score, of the five children with GD1 studied. The quality of life of children with Gaucher disease type 1 measured with Lansky Score improved because hepatoesplenomegaly, biological markers and growth rate recovers their normal range after ERT.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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We describe a splenectomized patient with Gaucher disease who developed massive hepatomegaly, cirrhosis of the liver and life-threatening hepatopulmonary syndrome. Treatment with Imiglucerase enzyme replacement therapy resulted in dramatic reversal of hepatopulmonary syndrome and liver disease. Our report suggests that Gaucher disease pathology involving advanced fibrosis and life-threatening complications can be reversed by imiglucerase enzyme therapy.SynopsisEffect of imiglucerase enzyme replacement therapy on Hepatopulmonary Syndrome in Gaucher Disease.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Authors: Nguyen Y, Stirnemann J, Belmatoug N Abstract Gaucher disease is a rare autosomal recessive genetic disease, caused by a deficiency of the lysosomal enzyme, glucocerebrosidase that leads to the accumulation of its substrate (glucosylceramide) in lysosomal macrophages. In the general population, its incidence varies between 0.4 and 5.8/100,000 inhabitants. Type 1 Gaucher disease is the most frequent and is characterized by its extreme heterogeneity including asymptomatic or more severe presentations. The most frequent symptoms are anemia, thrombocytopenia, splenomegaly, and/or hepatomegaly, and a potentially...
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research
Gaucher disease (GD), has a pan-ethnic distribution with incidence in non-Ashkenazi Jewish population about 1/70-140 thousand inhabitants. The deficiency in lysosomal acid beta-glucosidase enzyme secondary to variants in the GBA gene with autosomal recessive inheritance gives rise to a variable clinical picture. It appears at any age with symptoms that include anemia, thrombocytopenia, pain and vascular bone lesions, visceral enlargement, persistent fatigue. It was the first EDL to have enzymatic replacement and substrate reduction therapy that impact in the awareness of the disease. In 1993, the Spanish Registry of Gauche...
Source: Blood - Category: Hematology Authors: Tags: 201. Granulocytes, Monocytes, and Macrophages: Poster I Source Type: research
ConclusionsThe signs and co ‐variables identified in the GED‐C initiative as potentially indicative of early GD will help to guide non‐specialists and raise their index of suspicion in identifying patients potentially suitable for diagnostic testing for GD.This article is protected by copyright. All rights reserved.
Source: Internal Medicine Journal - Category: Internal Medicine Authors: Tags: Original Article Source Type: research
ConclusionA rare case of Gaucher disease is reported here to emphasize the importance of early recognition by clinical manifestation and histological findings. Gaucher disease should be considered in the differential diagnosis of children with unexplained symptoms of multiple systems.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
CONCLUSION: The establishment of Priority Nursing Diagnoses based on signs and symptoms makes it possible to achieve expected outcomes for each individual in the care context. PMID: 29324951 [PubMed - in process]
Source: Revista Brasileira de Enfermagem - Category: Nursing Authors: Tags: Rev Bras Enferm Source Type: research
Publication date: March 2018 Source:Molecular Genetics and Metabolism Reports, Volume 14 Author(s): Ida Vanessa D. Schwartz, Özlem Göker-Alpan, Priya S. Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understanding of type 3 GD (GD3) and its natural history in patients irrespective of their treatment status. Here, we describe the disease characteristic...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Publication date: Available online 5 November 2017 Source:Acta Haematologica Polonica Author(s): Piotr Hasiński, Mirosław Bik-Multanowski, Magdalena Koba-Wszędobył, Mieczysław Walczak, Marek Bubnowski, Agnieszka Milewska-Kranc, Andrzej Smyk, Maciej Machaczka The following recommendations are the first complete document concerning the diagnosis, treatment and monitoring of Gaucher disease (GD) in Poland. GD is a rare, genetically determined storage disorder, involving deficiency or absence of glucocerebrosidase activity, a lysosomal enzyme that digests glucosylceramide. Glucosylceramide excessively accumulates in the ...
Source: Acta Haematologica Polonica - Category: Hematology Source Type: research
ABSTRACT Gaucher disease (GD) leads to accumulation of glucosylceramide (GL1) and its deacylated lysolipid, glucosylsphingosine (lyso‐GL1) which is implicated in mediating immune dysregulation and skeletal disease. The aim of our study was to assess plasma Lyso‐GL1 as a biomarker of GD and its response to therapy. Plasma lyso‐GL1 in 169 patients with GD type 1 (GD1) was measured by LC‐MS/MS. Significant predictors of were assessed by Pearson's correlation coefficient, Wilcoxon Mann Whitney test and multiple linear regression. Propensity scores were used to match patients on treatment mode: Enzyme Replacement Therap...
Source: American Journal of Hematology - Category: Hematology Authors: Tags: Research Article Source Type: research
We present and discuss here a case of an infant with liver disease and splenomegaly that were not ascribed to NP-C, but to Gaucher disease type 2. Liver biopsy, enzymatic studies and whole exome sequencing allowed to make the diagnosis. Although rare, Gaucher disease can cause neonatal hepatitis. A prompt recognition is advocated. PMID: 26847548 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research
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