scholarly journals Pulmonary involvement in siblings with Gaucher disease type III

2011 ◽  
Vol 68 (12) ◽  
pp. 1071-1074 ◽  
Author(s):  
Maja Djordjevic ◽  
Predrag Minic ◽  
Adrijan Sarajlija ◽  
Slavisa Djuricic ◽  
Dragomir Djokic ◽  
...  
Keyword(s):  
Pulmonary Disease ◽  
Gaucher Disease ◽  
Fatal Outcome ◽  
Lavage Fluid ◽  
Pulmonary Involvement ◽  
Pulmonary Complications ◽  
Type Iii ◽  
Enzyme Replacement ◽  
Gba Gene ◽  
L444p Mutation

Introduction. Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a substantial risk for developing primary pulmonary disease in GD. Case report. We reported sisters with pulmonary involvement in GD type III. Respiratory failure with fatal outcome at 3 years and 4 months of age occurred in K.K. due to pulmonary complications of GD. At the time enzyme replacement therapy (ERT) was not available in Serbia. J.K., homozygous for L444P mutation, developed asymptomatic pulmonary involvement at the age of 6 after 2.5 years of ERT. Pulmonary disease in J.K. was verified by high resolution computerized tomography, cytology of bronchoalveolar lavage fluid and histopathology of transbronchial lung biopsy. Conclusion. Primary lung disease in children homoallelic for L444P mutation in GBA gene emerges as a significant clinical manifestation of GD with unclear response to ERT.

Pulmonary disease in type III Gaucher disease refractory to conventional enzyme replacement therapy

2014 ◽  
Vol 111 (2) ◽  
pp. S34-S35 ◽  
Author(s):  
James E. Davison ◽  
Colin Wallis ◽  
Francesco Mauri ◽  
Matthew Berry ◽  
Ashok Vellodi
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pulmonary Disease ◽  
Gaucher Disease ◽  
Type Iii ◽  
Enzyme Replacement

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

2008 ◽  
Vol 31 (6) ◽  
pp. 745-752 ◽  
Author(s):  
J. Cox-Brinkman ◽  
M. J. van Breemen ◽  
B. T. van Maldegem ◽  
L. Bour ◽  
W. E. Donker ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Substrate Reduction Therapy ◽  
Type Iii ◽  
Enzyme Replacement ◽  
Substrate Reduction ◽  
Potential Efficacy

Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases

2007 ◽  
Vol 30 (6) ◽  
pp. 935-942 ◽  
Author(s):  
E. H. Davies ◽  
A. Erikson ◽  
T. Collin-Histed ◽  
E. Mengel ◽  
A. Tylki-Szymanska ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Type Iii ◽  
Enzyme Replacement

Enzyme replacement therapy in a patient with type III Gaucher disease: Report of a paradigmatic case

2013 ◽  
Vol 108 (2) ◽  
pp. S94-S95 ◽  
Author(s):  
Filippo Vairo ◽  
Alicia Dorneles ◽  
Suzana Mittelstadt ◽  
Matheus Wilke ◽  
Divair Doneda ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Type Iii ◽  
Enzyme Replacement

scholarly journals Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease

2021 ◽  
Author(s):  
Dylan Vellas ◽  
Baptiste Gramont ◽  
Rémi Grange ◽  
Pascal Cathébras
Keyword(s):  
Elderly Patient ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Pulmonary Involvement ◽  
Reticuloendothelial System ◽  
Substrate Reduction Therapy ◽  
Lysosomal Storage ◽  
Enzyme Replacement

Type 1 Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrosidase, leading to accumulation of its substrate (glucosylceramide) in macrophages of the reticuloendothelial system, which are then referred to as Gaucher cells. The most frequent symptoms are asthenia, spleen and liver enlargement, bone abnormalities and cytopenia due to bone marrow infiltration. Lung involvement in GD is a rare finding, and it is unclear whether it may regress under enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Here we report a case of type 1 GD recently diagnosed in an elderly patient complicated by infiltrative lung disease, which responded to ERT.

scholarly journals Enzyme replacement therapy for Gaucher disease

Blood ◽  
1991 ◽  
Vol 78 (5) ◽  
pp. 1183-1189 ◽  
Author(s):  
E Beutler ◽  
A Kay ◽  
A Saven ◽  
P Garver ◽  
D Thurston ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Pulmonary Function Tests ◽  
Liver Function Tests ◽  
Pulmonary Involvement ◽  
Type I ◽  
Serum Angiotensin Converting Enzyme ◽  
Enzyme Replacement ◽  
Skeletal Disease ◽  
Function Tests ◽  
The Cost

Four patients with moderately severe type I Gaucher disease were treated with commercially available mannose terminated glucocerebrosidase (Ceredase; Genzyme, Boston, MA) for up to 13 months. The enzyme was administered at the rate of three to four times weekly at one fourth the total recommended dosage, greatly decreasing the cost. Marked regression of hepatomegaly and improvement in liver function tests, peripheral blood counts, and serum angiotensin- converting enzyme levels were documented. The two patients with pulmonary involvement manifested improvement in pulmonary function tests. Skeletal disease remained unchanged.

Respiratory system

2013 ◽  
Author(s):  
Rachel K. Hoyles ◽  
Athol U. Wells
Keyword(s):  
Pulmonary Disease ◽  
Lupus Erythematosus ◽  
Systemic Disease ◽  
Connective Tissue Diseases ◽  
Pulmonary Nodules ◽  
Pulmonary Involvement ◽  
Pulmonary Complications ◽  
Pulmonary Vascular Disease ◽  
Pulmonary Manifestations ◽  
Clinically Significant

Pulmonary involvement is common in the connective tissue diseases (CTDs) and is associated with significant morbidity and mortality. Improved management of systemic disease has led to increasing numbers of surviving patients with clinically significant pulmonary disease. Screening for pulmonary complications highlights the frequency of subclinical involvement. In this chapter, the pulmonary manifestations of the more common CTDs are detailed, including rheumatoid arthritis (RA), systemic sclerosis (SSc), systemic lupus erythematosus (SLE), polymyositis/dermatomyositis (PM/DM), Sjögren's syndrome (SS), and, more briefly, ankylosing spondylitis (AS). A broad spectrum of pulmonary disorders are seen in association with the CTDs or the drugs used to treat the underlying disorder, including interstitial lung disease, pulmonary infections, airways disease, pulmonary nodules, pleural disease, chest wall pathology and pulmonary vascular disease; the discussion is stratified by pulmonary complication. In many cases, two or more pulmonary manifestations of CTD coexist or there are other concurrent diseases such as asthma and lung cancer, resulting in potentially confusing mixed imaging and pulmonary function abnormalities. This chapter presents a comprehensive approach to the investigation, screening, prognostic evaluation, and treatment decisions in pulmonary disease associated with the CTDs.

Respiratory system

2013 ◽  
pp. 150-155
Author(s):  
Rachel K. Hoyles ◽  
Athol U. Wells
Keyword(s):  
Pulmonary Disease ◽  
Lupus Erythematosus ◽  
Systemic Disease ◽  
Connective Tissue Diseases ◽  
Pulmonary Involvement ◽  
Pulmonary Complications ◽  
Pulmonary Vascular Disease ◽  
Pulmonary Manifestations ◽  
Clinically Significant ◽  
Underlying Disorder

Pulmonary involvement is common in the connective tissue diseases (CTDs) and is associated with significant morbidity and mortality. Improved management of systemic disease has led to increasing numbers of surviving patients with clinically significant pulmonary disease. Screening for pulmonary complications highlights the frequency of subclinical involvement. In this chapter, the pulmonary manifestations of the more common CTDs are detailed, including rheumatoid arthritis (RA), systemic sclerosis (SSc), systemic lupus erythematosus (SLE), polymyositis/dermatomyositis (PM/DM), Sjögren’s syndrome (SS), and, more briefly, ankylosing spondylitis (AS). A broad spectrum of pulmonary disorders are seen in association with the CTDs or the drugs used to treat the underlying disorder, including interstitial lung disease, pulmonary infections, airways disease, pulmonary nodules, pleural disease, chest wall pathology and pulmonary vascular disease; the discussion is stratified by pulmonary complication. In many cases, two or more pulmonary manifestations of CTD coexist or there are other concurrent diseases such as asthma and lung cancer, resulting in potentially confusing mixed imaging and pulmonary function abnormalities. This chapter presents a comprehensive approach to the investigation, screening, prognostic evaluation, and treatment decisions in pulmonary disease associated with the CTDs.

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