Gaucher Disease: Review of the Literature

2008 ◽  
Vol 132 (5) ◽  
pp. 851-853 ◽  
Author(s):  
Mingyi Chen ◽  
Jun Wang
Keyword(s):  
Gaucher Disease ◽  
Storage Disease ◽  
Clinical Signs ◽  
Autosomal Recessive Disorder ◽  
Signs And Symptoms ◽  
Mononuclear Phagocyte ◽  
Lysosomal Storage ◽  
Lipid Storage Disease ◽  
Enzyme Replacement ◽  
Clinical Signs And Symptoms

Abstract We present a brief review of Gaucher disease, the most common lysosomal storage disease. Gaucher disease is a rare autosomal recessive disorder characterized by defective function of the catabolic enzyme β-glucocerebrosidase, leading to an accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system, especially histiocytes in the spleen, lymph nodes, and bone marrow; Kupffer cells in the liver; osteoclasts in bone; microglia in the central nervous system; alveolar macrophages in the lungs; and histiocytes in the gastrointestinal tracts, genitourinary tracts, and the peritoneum. Clinical signs and symptoms include neurologic dysfunctions, bone infarcts and malformations, hepatosplenomegaly and hypersplenism leading to anemia, neutropenia, and thrombocytopenia. Enzyme replacement therapy with recombinant glucocerebrosidase is the mainstay of treatment for Gaucher disease, which became the first successfully managed lipid storage disease. Future treatments may include oral enzyme replacement and/or gene therapy interventions.

scholarly journals From Symptoms and Signs to Diagnosis in a Rare Disease, Type I Gaucher Disease

2018 ◽  
Vol 15 (1) ◽  
pp. 69-76
Author(s):  
Mihaela Ghinea ◽  
Sabina Ciocodei ◽  
Gabriela Butoi ◽  
Geandan Memet ◽  
Andreea Stoica ◽  
...  
Keyword(s):  
Laboratory Testing ◽  
Gaucher Disease ◽  
Storage Disease ◽  
Disease Type ◽  
Genetic Mutations ◽  
Type I ◽  
Lysosomal Storage ◽  
Specific Enzyme ◽  
Enzyme Replacement ◽  
Symptoms And Signs

AbstractGaucher disease is the most frequent lysosomal storage disease, caused by the deficiency of an enzyme called β-glucocerebrosidase. Three types of Gaucher disease are described. Type I Gaucher disease benefits from lifelong enzyme replacement therapy with imiglucerase.Herein, we present the case of a 34-year-old female patient, a commercial worker, who was admitted to our Department of Haematology in the Emergency Clinical Hospital of Constanta in order to investigate the aetiology of a persistent splenomegaly. Clinical examination and laboratory testing evidenced the following: splenomegaly, hepatomegaly, anaemia, leukopenia and neutropenia, thrombocytopenia, and a myelogram showing Gaucher cells. In this context, the suspicion of Gaucher disease was raised and the investigations were further completed through specific enzyme testing and genetic testing. The low values of lysosomal enzymes, coupled with the detection of two specific genetic mutations confirmed the diagnosis of Gaucher disease.In January 2017, treatment with 2400U of imiglucerase in intravenous perfusion every two weeks was begun.

scholarly journals Coxarthritis as the Presenting Symptom of Gaucher Disease Type 1

Arthritis ◽  
2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Giacomo Brisca ◽  
Maja Di Rocco ◽  
Paolo Picco ◽  
Maria Beatrice Damasio ◽  
Alberto Martini
Keyword(s):  
Gaucher Disease ◽  
Lysosomal Storage Disorder ◽  
Signs And Symptoms ◽  
Mononuclear Phagocyte ◽  
Disease Type ◽  
Lysosomal Storage ◽  
Skeletal Disease ◽  
Abnormal Accumulation ◽  
Gaucher Disease Type 1

Gaucher disease (GD) type 1 is the most common lysosomal storage disorder due to beta glucocerebrosidase deficiency leading to an abnormal accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system. The disease presentation is usually characterized by signs and symptoms related to hypersplenism, such as splenomegaly, anaemia, thrombocytopenia and leucopenia. Skeletal disease may occur later for the infiltration of bone marrow by macrophages infiltration and bone resorption: bone involvement may be heterogeneously manifested by symptoms ranging from bone crisis to avascular necrosis, osteoporosis and defect in remodeling of long bones. Herein, we report a patient in whom the osteoarticular involvement has been the only symptom of the disease stressing that this unusual presentation of GD has prompted a wide differential diagnosis with more common forms of coxitis.

Enzyme replacement therapy for Gaucher disease introduced in late adulthood

2012 ◽  
Vol 153 (7) ◽  
pp. 264-270 ◽  
Author(s):  
Pálma Juhász ◽  
Beáta Tóth ◽  
László Maródi ◽  
Melinda Erdős
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Signs And Symptoms ◽  
Recessive Mutation ◽  
Bleeding Tendency ◽  
Lysosomal Storage ◽  
Late Adulthood ◽  
Enzyme Replacement ◽  
Pathologic Fractures

Gaucher disease is the most prevalent lysosomal storage disorder caused by recessive mutation of the beta-glucocerebrosidase gene, which leads to massive lysosomal accumulation of glucocerebrosids especially in macrophages of bone marrow, liver and spleen. The most common presenting signs and symptoms are hepatosplenomegaly, bone pain, pathologic fractures, fatigue, bleeding tendency and recurrent infections. Regular enzyme replacement therapy which is available since 1992 in Hungary successfully reverses the symptoms of the disorder, including hematological abnormalities, bone infiltration and hepatosplenomegaly. Authors present here two cases diagnosed in late adulthood to emphasize the importance of early diagnosis and treatment. Orv. Hetil., 2012, 153, 264–270.

l-Glutaric Acidemia: Investigation of a Patient and His Family

PEDIATRICS ◽  
1979 ◽  
Vol 63 (1) ◽  
pp. 88-93
Author(s):  
Donald T. Whelan ◽  
Robert Hill ◽  
Eamonn D. Ryan ◽  
Marilyn Spate
Keyword(s):  
Glutaric Acid ◽  
Family Members ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Signs And Symptoms ◽  
Gas Liquid Chromatography ◽  
Normal Range ◽  
Metabolic Investigation ◽  
Clinical Signs And Symptoms

A 5-month-old infant had an unusual combination of clinical signs and symptoms. These consisted of irritability, dystonia, lack of head control, grimacing, opisthotonos, choreoathetoid movements, delayed development, and severe metabolic acidosis. Metabolic investigation by gas-liquid chromatography/mass spectrometry detected urinary organic acids. This confirmed the diagnosis of l-glutaric aciduria. The concentration of l-glutaric acid in the patient's plasma was 2.5 mg/dl (normal range, 0 to 0.1 mg/dl), and in the patient's urine was 4.6 mg/mg of creatinine (normal range, 0 to 0.05 mg/mg of creatinine),) but the concentration was not elevated in the plasma and urine of the infant's parents nor of two other family members. No glutaryl-CoA dehvdrogenase activity was found in leukocytes taken from the patient. Three of the four family members, including the parents, demonstrated 38%, 42%, and 42% activity, respectively, compared with the activity of normal controls. These findings are consistent with an autosomal recessive disorder involving the Metabolism of ghitaryl-CoA to crotonyl-CoA. Dietary restriction was instituted on two separate occasions. First, a low protein diet of 1.6 gm/kg of body weight per day was given, then a low lysine intake of 50 mg/kg/day. These dietary manipulations caused a decrease in the plasma and urine concentrations of L-glutaric acid and β-hydroxyglutaric acid. However, no effect on the clinical manifestations of the disease was noted.

Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease?

2008 ◽  
Vol 47 (06) ◽  
pp. 239-247 ◽  
Author(s):  
S. Kohlfürst ◽  
H. J. Gallowitsch ◽  
E. Kresnik ◽  
P. Lind ◽  
A. B. Mehta ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Lysosomal Storage Disease ◽  
Gaucher Disease ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Scintigraphic Imaging ◽  
Imaging Methods ◽  
X Ray ◽  
Deficient Activity

SummaryGaucher disease is the most prevalent inherited, lysosomal storage disease and is caused by deficient activity of the enzyme β-glucocerebrosidase. Bone and bone marrow alterations are frequent in the most prevalent non-neuronopathic form of Gaucher disease. Imaging of bone manifestations in Gaucher disease is performed by a variety of imaging methods, conventional X-ray and MRI as the most frequently and most important ones. However, different modalities of scintigraphic imaging have also been used. This article gives an overview on scintigraphic imaging with respect to bone manifestations in Gaucher disease discussing the advantages and limitations of scintigraphic imaging in comparison to other imaging methods.

scholarly journals Dementia and Major Neurocognitive Disorders: Some Lessons Learned One Century after the first Alois Alzheimer’s Clinical Notes

Geriatrics ◽  
2021 ◽  
Vol 6 (1) ◽  
pp. 5
Author(s):  
Donatella Rita Petretto ◽  
Gian Pietro Carrogu ◽  
Luca Gaviano ◽  
Lorenzo Pili ◽  
Roberto Pili
Keyword(s):  
Young Woman ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Neurocognitive Disorders ◽  
Lessons Learned ◽  
Alzheimer Dementia ◽  
Clinical Notes ◽  
Alois Alzheimer ◽  
Clinical Signs And Symptoms

Over 100 years ago, Alois Alzheimer presented the clinical signs and symptoms of what has been later called “Alzheimer Dementia” in a young woman whose name was Augustine Deter [...]

scholarly journals Correction to: Levoketoconazole improves clinical signs and symptoms and patient-reported outcomes in patients with Cushing’s syndrome

Pituitary ◽  
2020 ◽  
Author(s):  
Eliza B. Geer ◽  
Roberto Salvatori ◽  
Atanaska Elenkova ◽  
Maria Fleseriu ◽  
Rosario Pivonello ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Patient Reported Outcomes ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Cushing's Syndrome ◽  
Original Version ◽  
Patient Reported ◽  
Author Group ◽  
Clinical Signs And Symptoms

The original version of the article unfortunately contained an error in the first name and the surname of one of the authors in the author group. The last author name was incorrectly published as ‘F. Pecori Giraldi’ and the corrected name is ‘Francesca Pecori Giraldi’ (First name: Francesca; Surname: Pecori Giraldi).

scholarly journals A 38-year demographic study of central and peripheral giant cell granulomas of the jaws

2016 ◽  
Vol 15 (2) ◽  
pp. 220-223 ◽  
Author(s):  
Shadi Saghafi ◽  
Reza Zare-Mahmoodabadi ◽  
Narges Ghazi ◽  
Mohammad Zargari
Keyword(s):  
Giant Cell ◽  
Medical Science ◽  
Age Distribution ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Posterior Maxilla ◽  
Frequent Site ◽  
Male Patients ◽  
Clinical Signs And Symptoms ◽  
Anterior Mandible

Objective: The purpose of this study was to retrospectively analyze the demographic characteristics of patients with central giant cell granulomas (CGCGs) and peripheral giant cell granulomas (PGCGs) in Iranian population.Methods: The data were obtained from records of 1019 patients with CGCG and PGCG of the jaws referred to our department between 1972 and 2010. This 38-year retrospective study was based on existing data. Information regarding age distribution, gender, location of the lesion and clinical signs and symptoms was documented. Results: A total of 1019 patients were affected GCGLs including 435 CGCGs and 584 PGCGs during the study. The mean age was 28.91 ± 18.16. PGCGs and CGCGs had a peak of occurrence in the first and second decade of life respectively. A female predominance was shown in CGCG cases (57.70%), whereas PGCGs were more frequent in males (50.85%). Five hundred and ninety-eight cases of all giant cell lesions (58.7 %) occurred in the mandible. Posterior mandible was the most frequent site for both CGCG and PGCG cases. The second most common site for PGCG was posterior maxilla (21%), whereas anterior mandible was involved in CGCG (19.45%). The majority of patients were asymptomatic. Conclusions: In contrast to most of previous studies PGCGs occur more common in the first decade and also more frequently in male patients. Although the CGCGs share some histopathologic similarities with PGCGs, differences in demographic features may be observed in different populations which may help in the diagnosis and management of these lesions.Bangladesh Journal of Medical Science Vol.15(2) 2016 p.220-223

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