This profile was similar to that in the patient's lungs, suggesting that these lipids were present in brain perivascular macrophages.[ncbi.nlm.nih.gov]
Case presentation We describe the case of a 26-year-old Polish male with L444P homozygous GD3 (mutation c.1448T C in the GBA1 gene) who developed fundus lesions despite 10 years of ERT.[ncbi.nlm.nih.gov]
Patients with type 2 disease may present at birth or during infancy with increased tone, seizures, strabismus, and organomegaly.[emedicine.medscape.com]
The treatment of Gaucher disease at present is mainly by enzyme replacement therapy which is expensive. In some severe cases HSCT is used to treat people with Gaucher disease.[cochranelibrary.com]
MAR 2001; 27 (2) : 489-495 Mao-R; O'-Brien-JF; Rao-S; Schmitt-E; Roa-B; Feldman-GL; Spence-WC; Snow-K Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: Phenotypic presentation and implications for mutation detection[malattierare.regione.veneto.it]
They may also have chronic fatigue, hepatomegaly (with or without abnormal liver function test findings), bone pain, or pathologic fractures and may bruise easily because of thrombocytopenia.[emedicine.medscape.com]
Due to these abnormal cells people with Gaucher disease will have pain, fatigue, anemia, jaundice and bone damage. Some forms of Gaucher disease may also cause neurological damage.[cochranelibrary.com]
A Caucasian male with Gaucher disease type 3, treated with continuous enzyme therapy (ET) for 11 years, experienced progressive mesenteric and retroperitoneal lymphadenopathy, lung disease, and neurological involvement leading to death at an age of 12.5[ncbi.nlm.nih.gov]
JUN 2000; 26 (3) : 171-176 Khan-SB; Alkan-S; Pooley-R Pathologic quiz case - A 14-year-old boy with splenomegaly - Diagnosis: Gaucher disease ARCHIVES-OF-PATHOLOGY-AND-LABORATORY-MEDICINE.[malattierare.regione.veneto.it]
They may also have chronic fatigue, hepatomegaly (with or without abnormal liver function test findings), bone pain, or pathologic fractures and may bruise easily because of thrombocytopenia.[emedicine.medscape.com]
Intraocular lesions (e.g. corneal clouding, retinallesions, and vitreous opacities) have been infrequently reported in GD type 3 (GD3).[ncbi.nlm.nih.gov]
This profile was similar to that in the patient's lungs, suggesting that these lipids were present in brain perivascular macrophages.[ncbi.nlm.nih.gov]
Our results suggest that moderate reduction of ERT dosage lasting for relatively short period of time can lead to worsening in biomarkers of adults with N-GD3. However, this worsening is infrequently translated to clinical worsening of patients.[ncbi.nlm.nih.gov]
One non‐randomised study has suggested that HSCT may be more effective than ERT at currently used dosage levels, in reducing total body stores of glucocerebroside ( Young 1997 ).[cochranelibrary.com]
SEP 1 2000; 96 (5) : 1969-1978 Uyama-E Gaucher disease with oculomotor apraxia and cardiovascular calcification NEUROLOGY-.[malattierare.regione.veneto.it]
Failure to thrive, swallowing abnormalities, oculomotor apraxia, hepatosplenomegaly, and stridor due to laryngospasm are typical in infants with type 2 disease.[emedicine.medscape.com]
The neurological symptoms seen in types 2 and 3 include oculomotor apraxia (difficulty moving the eyes), opisthotonus (extreme backward arching of the spine), bulbar signs (problems with breathing, swallowing and talking) and seizures ( Beutler 2001 ;[cochranelibrary.com]
Symptoms include mental deterioration, ataxia, and myoclonic seizures. The cause of Gaucher disease III is the accumulation of a fatty material called glucocerebroside (also known as glucosylceramide) Treatment includes enzyme replacement therapy.[gii.co.jp]
Patients with type 2 disease may present at birth or during infancy with increased tone, seizures, strabismus, and organomegaly.[emedicine.medscape.com]
The neurological symptoms seen in types 2 and 3 include oculomotor apraxia (difficulty moving the eyes), opisthotonus (extreme backward arching of the spine), bulbar signs (problems with breathing, swallowing and talking) and seizures ( Beutler 2001 ;[cochranelibrary.com]
Symptoms include mentaldeterioration, ataxia, and myoclonic seizures. The cause of Gaucher disease III is the accumulation of a fatty material called glucocerebroside (also known as glucosylceramide) Treatment includes enzyme replacement therapy.[gii.co.jp]
Hb decreased in four patients, PLT decreased in three patients, chitotriosidaseincreased in three patients (max. 22 % of baseline), and CCL18/PARC increased in six patients ( 14 % to 57 %). The body weight was moderately decreased in one patient.[ncbi.nlm.nih.gov]
Measures of treatment effect In future updates, if we are able to include any trials, for dichotomous outcomes, we plan to estimate treatment effects using the risk ratio (RR).[cochranelibrary.com]
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis 2012 doi: 10.1007/s10545-012-9528-4 15. Deegan, PB, Cox TM.[rarediseases.org]
Substrate reduction therapy (SRT) is an alternative treatment for appropriate adult patients with type 1 Gaucher disease.[emedicine.medscape.com]
雑誌 Mol Genet Metab 83:6-15 (2004) DOI: 10.1016/j.ymgme.2004.08.015 文献 PMID: 12633142 著者 Wenger DA, Coppola S, Liu SL タイトル Insights into the diagnosis and treatment of lysosomal storage diseases.[genome.jp]
AUG 2000; 26 (4) : 285-290 Beutler-E Commentary: Dosage-response in the treatment of Gaucher disease by enzyme replacement therapy BLOOD-CELLS-MOLECULES-AND-DISEASES.[malattierare.regione.veneto.it]
The prognosis of type 3 Gaucher disease depends on the severity of disease and age of onset of therapy.[emedicine.medscape.com]
Alternatively DNA analysis can be used to diagnose Gaucher disease and also to establish a disease prognosis ( Beutler 2006 ). Description of the intervention The treatment of Gaucher disease before the 1990s was essentially symptomatic.[cochranelibrary.com]
Epidemiology Frequency United States Type 1 Gaucher disease more common among Jewish people of Eastern European origin; the carrier frequency in these individuals is approximately 1 per 15 population, whereas the disease frequency is 1 per 855 population[emedicine.medscape.com]
The pathophysiological feature of Gaucher disease is the presence of Gaucher cells derived from the monocyte‐macrophage system.[cochranelibrary.com]
Pathophysiology Glucosylceramide, the accumulated glycolipid, is primarily derived from the phagocytosis and degradation of senescent leukocytes and erythrocyte membranes.[emedicine.medscape.com]
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease. Proc Natl Acad Sci USA 2011; 108: 21200-21205. 23. Sardi AP, Clarke J, Vial C, Chan M, Tamsett TJ et al.[rarediseases.org]
Therapeutics; Retrophin; Raptor Pharma; Censa Pharma; Biomarin; PreventionGenetics Received research grant from: Alexion Received income in an amount equal to or greater than 250 from: Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma; Biomarin; Prevention[emedicine.medscape.com]
This compound inhibits glucosylceramide synthase, preventing new synthesis of glucosylceramide. The clinical trials show it is effective in most people with mild and stable disease, but is less well‐tolerated.[cochranelibrary.com]