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1.
Ter Arkh ; 91(1): 84-88, 2019 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-31090377

RESUMO

Differential diagnosis of bone involvement in patients with Gaucher disease can be challenging. Other diseases with similar radiological signs should be ruled out. Here we present a clinical case of tuberculous sacroiliitis in the patient with type I Gaucher disease. Advanced radiological methods of examination are described. Our case report proves the necessity of an individual approach to the management of such cohort of patients. Keywords: Gaucher disease, tuberculosis of bones and joints, differential diagnosis, comprehensive treatment.


Assuntos
Doença de Gaucher/diagnóstico por imagem , Radiografia/métodos , Sacroileíte/diagnóstico por imagem , Tuberculose Osteoarticular/diagnóstico por imagem , Diagnóstico Diferencial , Doença de Gaucher/complicações , Humanos , Sacroileíte/complicações , Tuberculose Osteoarticular/complicações
2.
Mol Genet Metab ; 127(1): 23-27, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31047801

RESUMO

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene GBA1, which encodes the lysosomal protein glucocerebrosidase. Patients with Gaucher disease generally have a variety of clinical manifestations ranging from visceral to neurological involvement and some develop ocular involvement. The most commonly affected organs include the spleen, liver, and bone. Moreover, patients often have hepatosplenomegaly, thrombocytopenia, anemia, and bone involvement related to deficient glucocerebrosidase and the subsequent accumulation of glucosylceramide and glucosylsphingosine in cells. A subset of patients develops neurological manifestations, including seizures, myoclonic epilepsy, and progressive neurodegeneration. Eye involvement tends to be less common and presents with diverse clinical findings. These rare and variable ocular manifestations, involving the vitreous, retina, cornea, uvea, conjunctiva and eye movements, can pose a diagnostic challenge for clinicians, especially those not familiar with the disorder. In this review, we explore the different ophthalmologic findings reported in patients with Gaucher disease, aiming to facilitate diagnosis and expedite treatment for patients presenting with ocular manifestations of this rare disorder.


Assuntos
Oftalmopatias/etiologia , Olho/fisiopatologia , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Opacidade da Córnea/etiologia , Movimentos Oculares , Humanos , Mutação
3.
J Pediatr Endocrinol Metab ; 32(5): 533-536, 2019 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-31026225

RESUMO

Background Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid ß-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most frequent mutation. Case presentation We describe two patients who had homozygous D448H mutations. The index patient had hepatosplenomegaly, liver insufficiency and cardiac involvement and her sister had severe cardiac involvement with cardiomyopathy and diffuse aortic calcification. The index case's liver was transplanted at the age of 6 months from a related donor and her sister who had severe cardiovascular disease died at the age of 12 years. Conclusions Our patients had clinical variability. We need to discuss whether liver involvement could be the initial signs in patients with GD type 3c.


Assuntos
Doenças Cardiovasculares/patologia , Doença de Gaucher/complicações , Glucosilceramidase/genética , Hepatopatias/patologia , Mutação , Doenças Cardiovasculares/etiologia , Criança , Feminino , Doença de Gaucher/enzimologia , Doença de Gaucher/genética , Homozigoto , Humanos , Lactente , Hepatopatias/etiologia , Prognóstico , Irmãos
4.
J Gastrointestin Liver Dis ; 28(1): 121-123, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30851181

RESUMO

Gaucher's disease and alpha-1 antitrypsin deficiency are genetic diseases that can cause different kinds of liver damage, but are rarely associated with cirrhosis. Here, we describe the case of a patient with both diseases who presented with cirrhosis, followed by liver failure and death. Although the interaction between these two diseases remains unclear, we suspect the involvement of an epigenetic factor in the evolution of the aggressive liver disease.


Assuntos
Epigênese Genética , Doença de Gaucher/genética , Cirrose Hepática/genética , Falência Hepática/genética , Deficiência de alfa 1-Antitripsina/genética , Progressão da Doença , Terapia de Reposição de Enzimas , Evolução Fatal , Feminino , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Predisposição Genética para Doença , Humanos , Cirrose Hepática/diagnóstico , Falência Hepática/diagnóstico , Pessoa de Meia-Idade , Fenótipo , Fatores de Risco , Resultado do Tratamento , Deficiência de alfa 1-Antitripsina/complicações , Deficiência de alfa 1-Antitripsina/diagnóstico
5.
Rev Med Interne ; 40(5): 313-322, 2019 May.
Artigo em Francês | MEDLINE | ID: mdl-30638965

RESUMO

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 severe bone involvement. Type 2 and type 3 Gaucher diseases are associated with neurological involvement that can be severe. Diagnosis is confirmed by demonstrating a deficiency of glucocerebrosidase activity in leucocytes, and by the identification of biallelic pathogenic variants in GBA1 gene. Type 1 Gaucher disease is associated with a higher risk of Parkinson disease, some solid cancers, and hematologic diseases in particularly multiple myeloma. Specific treatment, such as enzyme replacement therapy or substrate reduction therapy is indicated in symptomatic type 1 Gaucher disease. Only enzyme replacement therapy is indicated in type 3 Gaucher disease. Treatment improves quality of life and prognosis. The rarity of Gaucher disease and its wide variability in clinical presentations lead to diagnosis delays. There is a strong need for a better knowledge of its symptoms among physicians, to reduce irreversible complications.


Assuntos
Doença de Gaucher/diagnóstico , Diagnóstico Diferencial , Terapia de Reposição de Enzimas/normas , Doença de Gaucher/complicações , Doença de Gaucher/epidemiologia , Doença de Gaucher/terapia , Glucosilceramidase/uso terapêutico , Humanos , Monitorização Fisiológica/métodos , Monitorização Fisiológica/normas , Prognóstico
8.
Am J Hematol ; 94(1): 29-38, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30264864

RESUMO

Eliglustat is a first-line oral therapy for adults with Gaucher disease type 1 (GD1) and poor, intermediate or extensive CYP2D6-metabolizer phenotypes (>90% of patients). We report the final results of a Phase 2 trial and extension (NCT00358150) in previously untreated adult GD1 patients who had splenomegaly with thrombocytopenia and/or anemia and received 50 or 100 mg eliglustat tartrate (equivalent to 42 or 84 mg eliglustat) twice daily for 8 years. In total, 19 of 26 patients completed the trial. After 8 years of eliglustat, mean spleen and liver volumes decreased by 69% and 34%, respectively. Mean hemoglobin concentration and platelet count increased by 2.2 g/dL and 113%, respectively. All patients met at least 3 of 4 therapeutic goals established for patients on long-term enzyme replacement therapy. Mean final values for patients with severe splenomegaly (n = 6), moderate-to-severe anemia (n = 6), or severe thrombocytopenia (n = 8) were similar to patients with milder disease at baseline and within long-term therapeutic goal thresholds. Biomarker median percent changes from baseline were -91% for chitotriosidase, -87% for CCL18, -92% for glucosylsphingosine, and -80% for plasma glucosylceramide. Mean lumbar spine T-score increased by 0.96, moving from the osteopenic to the normal range. Mean quality-of-life scores, mostly below normal at baseline, moved into ranges seen in healthy adults. Eliglustat was well-tolerated; 98% of adverse events were mild or moderate and 94% were considered unrelated to treatment. Clinically meaningful improvements in all parameters continued or were maintained over 8 years, with the largest margins of improvement seen in the most severely affected patients.


Assuntos
Inibidores Enzimáticos/uso terapêutico , Doença de Gaucher/tratamento farmacológico , Glucosiltransferases/antagonistas & inibidores , Pirrolidinas/uso terapêutico , Adulto , Densidade Óssea , Doenças Ósseas Metabólicas/tratamento farmacológico , Doenças Ósseas Metabólicas/etiologia , Feminino , Seguimentos , Doença de Gaucher/sangue , Doença de Gaucher/complicações , Glucosilceramidase/deficiência , Doenças Hematológicas/sangue , Doenças Hematológicas/tratamento farmacológico , Doenças Hematológicas/etiologia , Hemoglobinas/análise , Hepatomegalia/tratamento farmacológico , Hepatomegalia/etiologia , Hepatomegalia/patologia , Humanos , Fígado/efeitos dos fármacos , Fígado/patologia , Masculino , Contagem de Plaquetas , Baço/efeitos dos fármacos , Baço/patologia , Esplenomegalia/tratamento farmacológico , Esplenomegalia/etiologia , Esplenomegalia/patologia , Resultado do Tratamento
9.
Blood Cells Mol Dis ; 76: 1-6, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30473482

RESUMO

Gaucher Disease (GD) is the most common lysosomal storage disorder has traditionally been classified into three clinical phenotypes. Type 3 GD is characterized by neurological involvement but neurological symptoms generally appear later in life than in type 2 disease. Neutropenia is much rarer than other hematological manifestations in GD and has not been scrutinized adequately. Severe congenital neutropenia (SCN) is a rare disease entity which is characterized by a paucity of peripherally circulating neutrophils with arrest of neutrophil maturation at the promyelocyte stage and consequent increased susceptibility to severe and recurrent infections. We report a patient who presented in the first year of life with visceral involvement and severe neutropenia in whom the propositus had a unique coexistence of Gaucher Disease and severe congenital neutropenia associated with a mutation in HAX1. In contrast to his expired siblings he had experienced no severe infections. These clinical observations suggest that enzyme replacement therapy may display a modulating factor with respect to the clinical course of SCN. SYNOPSIS: Our patient is the only report of the combination of Gaucher Disease and Kostmann Syndrome in the literature. The clinical course of our patient is not severe when comparing with exitus siblings and other Kostmann Syndrome patients. But when considering the patient's only clinical difference is ERT, this case is very important to emphasise the role of enzyme replacement therapy in bone marrow.


Assuntos
Terapia de Reposição de Enzimas , Doença de Gaucher/complicações , Neutropenia/congênito , Proteínas Adaptadoras de Transdução de Sinal/genética , Medula Óssea/efeitos dos fármacos , Doença de Gaucher/tratamento farmacológico , Humanos , Lactente , Masculino , Mutação , Neutropenia/complicações
10.
Mol Genet Metab ; 126(2): 157-161, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30448006

RESUMO

Avascular necrosis (AVN), one type of bone infarction, is a major irreversible complication of Gaucher disease (GD). In this report, two pediatric patients with GD type 3, homozygous for the L483P pathogenic variant (formerly L444P), developed AVN despite treatment on long-term, high-dose enzyme replacement therapy (ERT). ERT was initiated in both patients, who had intact spleens, shortly after diagnosis with an initial dramatic response. However, both patients exhibited AVN after 5.5 and 11 years on high-dose ERT, respectively, despite good compliance and normalized hematological findings and visceral symptoms. This report demonstrates the importance of careful, regular surveillance of the musculoskeletal system in addition to monitoring the neurological symptoms associated with neuronopathic GD. Additionally, it highlights the limitations of ERT in terms of targeting certain sanctuary sites such as bone marrow and suggests the need for new treatment modalities other than ERT monotherapy to address these limitations.


Assuntos
Osso e Ossos/efeitos dos fármacos , Terapia de Reposição de Enzimas/efeitos adversos , Doença de Gaucher/complicações , Doença de Gaucher/tratamento farmacológico , Adolescente , Assistência ao Convalescente , Osso e Ossos/patologia , Criança , Pré-Escolar , Humanos , Lactente , Cifose/etiologia , Masculino , Osteonecrose/etiologia
11.
Childs Nerv Syst ; 35(1): 191-194, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30094495

RESUMO

BACKGROUND: Gaucher disease is a rare hereditary glycolipid storage disease. One of the rare complications is neurodeficits due to vertebral involvement. CASE PRESENTATION: An 18-year-old female patient presented to the outpatient clinic with cauda equina syndrome due to sacral involvement of type 1 GD. Bilateral laminectomy via posterior approach without posterior stabilization was performed. CONCLUSION: Maximum excision of the mass avoiding destabilization of the spinal column can provide long-term vertebral stability and improvement in neurodeficits.


Assuntos
Síndrome da Cauda Equina/etiologia , Doença de Gaucher/complicações , Adolescente , Síndrome da Cauda Equina/diagnóstico por imagem , Síndrome da Cauda Equina/cirurgia , Descompressão Cirúrgica , Terapia de Reposição de Enzimas/métodos , Feminino , Doença de Gaucher/cirurgia , Doença de Gaucher/terapia , Humanos , Laminectomia/métodos , Imagem por Ressonância Magnética , Procedimentos Neurocirúrgicos/métodos , Resultado do Tratamento
12.
J Gastrointestin Liver Dis ; 27(4): 459-463, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30574629

RESUMO

Gaucher Disease arises due to a deficiency in the enzyme glucocerebrosidase and is the most common lysosomal storage disease. This enzyme deficiency leads to the accumulation of glucocerebroside within macrophages (Gaucher cells) and the resulting infiltration of these cells into organs can cause clinical symptoms. There are three types of Gaucher Disease that differ based on the clinical course and the presence or absence of neurological involvement, but classically, Gaucher cell infiltrates impact a patient's spleen, liver, bone marrow and cortex. In this report, we present a case of Type 3 Gaucher Disease involving small bowel mucosa with a mesenteric mass formation. These unusual sites of Gaucher cell deposition likely led directly to uncommonly seen clinical symptoms, including small bowel obstruction and lower gastrointestinal hemorrhage.


Assuntos
Doença de Gaucher/complicações , Mucosa Intestinal/patologia , Obstrução Intestinal/etiologia , Intestino Delgado/patologia , Autopsia , Terapia de Reposição de Enzimas , Evolução Fatal , Feminino , Hemorragia Gastrointestinal/etiologia , Doença de Gaucher/diagnóstico por imagem , Doença de Gaucher/tratamento farmacológico , Doença de Gaucher/patologia , Glucosilceramidase/uso terapêutico , Humanos , Mucosa Intestinal/diagnóstico por imagem , Obstrução Intestinal/diagnóstico por imagem , Obstrução Intestinal/patologia , Intestino Delgado/diagnóstico por imagem , Insuficiência de Múltiplos Órgãos/etiologia , Sepse/etiologia , Adulto Jovem
13.
Rev Gastroenterol Peru ; 38(3): 280-284, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-30540732

RESUMO

Gaucher disease is an autosomal recessive lysosomal storage disorder characterized by deficiency of beta-glucosidase that would lead to the accumulation of glucosylceramide mainly in cells of the mononuclear phagocytic system causing systemic effectations. We present a patient of twenty years who is suffering from chronic pain in the left hypochondrium with episodes of bleeding for 3 years and sensation of thermal rise, physical examination revealed jaundice and massive splenomegaly, without neurological involvement. Severe osteoporosis, pancytopenia, and the presence of portal vein thrombosis with cavernomatous transformation complicated by portal biliopathy simulating a klatskin tumor, marrow and enzymatic studies were compatible with Gaucher disease, were shown as unexpected findings. he received treatment with imiglucerase, following up. It is a rare case, of great interest, heterogeneity in its clinical manifestations and unpublished by its complication, constituting a challenge to reach its diagnosis of this orphan disease.


Assuntos
Doenças dos Ductos Biliares/etiologia , Hemorragia Gastrointestinal/etiologia , Doença de Gaucher/complicações , Hemangioma Cavernoso/complicações , Hipertensão Portal/complicações , Veia Porta/anormalidades , Veia Porta/patologia , Ductos Biliares Intra-Hepáticos/diagnóstico por imagem , Ductos Biliares Intra-Hepáticos/patologia , Dilatação Patológica/etiologia , Terapia de Reposição de Enzimas , Vesícula Biliar/irrigação sanguínea , Doença de Gaucher/diagnóstico , Doença de Gaucher/tratamento farmacológico , Glucosilceramidase/uso terapêutico , Humanos , Hipertensão Portal/diagnóstico por imagem , Masculino , Veias Mesentéricas/diagnóstico por imagem , Veias Mesentéricas/patologia , Veia Porta/diagnóstico por imagem , Veias Renais/diagnóstico por imagem , Veias Renais/patologia , Esplenectomia , Veia Esplênica/diagnóstico por imagem , Veia Esplênica/patologia , Tomografia Computadorizada por Raios X , Adulto Jovem
14.
Medicine (Baltimore) ; 97(47): e13161, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30461613

RESUMO

RATIONALE: Gaucher disease (GD), characterized by glucosylceramide accumulation in the macrophage-monocyte system, is caused by glucosidase b acid (GBA) gene mutations which lead to the deficiency of lysosomal enzyme glucocerebrosidase. The mutation spectrum of GBA in Chinese patients is quite different from those seen in Jewish and non-Jewish Caucasian patients. Thus, it is relatively hard to diagnose GD in Chinese. PATIENT CONCERNS: A 24-year-old Chinese female with intermittent abdominal distension and progressive decrease in strength but without neurologic symptoms was initially referred for femoral head necrosis on the right feet. Laboratory examinations results indicated panhematopenia. Bone marrow aspiration smear and biopsy specimen found typical "wrinkled" Gaucher cells. Molecular-genetic testing of GBA gene revealed 3 mutations including R159W (c. 475 C > T), V1230G (c. 689T > G), and G241A (c. 721G > A). DIAGNOSES: On the basis of these findings and clinical manifestations, the final diagnosis of type 1 GD was made. INTERVENTIONS: Enzyme replacement therapy (ERT) with velaglucerase α was carried out after the diagnosis of type 1 GD. OUTCOMES: The platelet and hemoglobin levels were restored by ERT. LESSONS: To our knowledge, this is the first report of GD patient carrying 3 mutations in Chinese. These mutations in GBA in the present case imply a potential pool of patients with GD with this mutation in Chinese.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Doença de Gaucher/genética , Glucosilceramidase/genética , Mutação , Terapia de Reposição de Enzimas , Éxons , Feminino , Doença de Gaucher/complicações , Doença de Gaucher/tratamento farmacológico , Glucosilceramidase/uso terapêutico , Humanos , Debilidade Muscular/etiologia , Adulto Jovem
15.
J Med Case Rep ; 12(1): 306, 2018 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-30342532

RESUMO

BACKGROUND: Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase. Intravenously administered enzyme replacement therapy is the first-line therapy for Gaucher disease type 1 and substrate reduction therapy represents an alternative oral treatment. Here is a rare case report of Gaucher disease in South China. CASE PRESENTATION: Our patient was a 15-year-old Han Chinese boy presenting with fever, edema, and gradually increasing abdominal girth. A physical examination revealed obvious hypoevolutism and hepatomegaly, and laboratory tests and imaging examinations showed severe pulmonary interstitial fibrosis, infection, and moderate anemia. A final diagnosis of Gaucher disease was confirmed after examining the splenic pathological section derived from a splenectomy performed 6 years ago. His recovery improved after receiving anti-infection, diuresis, blood transfusion, and hepatoprotection and so on. However, enzyme replacement therapy was not adopted by our patient because his family could not afford it. CONCLUSION: A 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.


Assuntos
Febre/etiologia , Doença de Gaucher/tratamento farmacológico , Hepatomegalia/etiologia , Doenças Pulmonares Intersticiais/etiologia , Adolescente , Doença de Gaucher/complicações , Humanos , Masculino , Fibrose Pulmonar/etiologia
17.
J Natl Med Assoc ; 110(4): 330-333, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30126557

RESUMO

Gaucher disease is a lipid storage disorder due to deficiency of beta glucocerebrosidase. It's an autosomal recessive disease and as a result of this enzyme deficiency, glucocerebroside accumulates in various types of tissues like liver, brain spleen and bone marrow. We aimed to describe the effects of enzyme replacement therapy in three members of a family with Gaucher disease and to emphasize screening of the family members of the patients with Gaucher disease. Furthermore, late diagnosis and treatment in these patients have a minimal effect on improvement of the quality of life, and early diagnosis and treatment are very important in Gaucher disease.


Assuntos
Terapia de Reposição de Enzimas , Doença de Gaucher/tratamento farmacológico , Glucosilceramidase/uso terapêutico , Adolescente , Análise Mutacional de DNA , Doença de Gaucher/complicações , Doença de Gaucher/genética , Glucosilceramidase/deficiência , Hemoglobinas/análise , Humanos , Masculino , Pessoa de Meia-Idade , Esplenomegalia/etiologia
18.
Mol Genet Metab ; 125(1-2): 64-72, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30115580

RESUMO

BACKGROUND & AIMS: Long-term liver-related complications of Gaucher disease (GD) include cirrhosis, portal hypertension and hepatocellular carcinoma. Although liver fibrosis is the main determinant of adverse liver-related clinical outcomes, it has rarely been evaluated in previously published cohorts of GD patients. We aimed at: assessing the prevalence of significant liver fibrosis in a cohort of patients with type 1 GD; identifying its predictors among GD-related variables, enzyme replacement therapy (ERT) and metabolic features. METHODS: 37 adult type 1 GD patients from two Italian academic referral centers were prospectively submitted to vibration controlled transient elastography (Fibroscan®); significant fibrosis was defined as liver stiffness ≥7 kPa. RESULTS: Median liver stiffness was 4.6 [3-15.1] kPa and 7 patients (19%) had significant fibrosis. Significant fibrosis was associated with splenectomy (p = .046) and with scores (DS3: p = .002; SSI: p = .026) and biomarkers (ACE: p = .016; HDL cholesterol: p = .004) of GD severity. Length of ERT was significantly lower in GD patients with significant fibrosis. In the subgroup of 29 patients who were on stable ERT for at least 24 months, further to splenectomy, GD severity and non-N370S GBA1 genotypes, also diastolic blood pressure, BMI and the number of metabolic syndrome (MetS) components emerged as factors significantly associated with significant fibrosis. CONCLUSIONS: Significant fibrosis is present in a remarkable proportion of adult type 1 GD patients. Splenectomy, GD severity and GBA1 genotypes are major GD-related predictors of liver fibrosis. Length of ERT is inversely correlated with liver disease in GD patients, suggesting a beneficial effect of ERT on liver fibrosis. However, GD patients on stable ERT should be monitored for metabolic complications, since MetS features may enhance liver disease progression despite optimal GD control.


Assuntos
Carcinoma Hepatocelular/tratamento farmacológico , Doença de Gaucher/tratamento farmacológico , Cirrose Hepática/tratamento farmacológico , Fígado/efeitos dos fármacos , Adulto , Idoso , Carcinoma Hepatocelular/etiologia , Carcinoma Hepatocelular/genética , Carcinoma Hepatocelular/cirurgia , HDL-Colesterol/genética , Técnicas de Imagem por Elasticidade , Terapia de Reposição de Enzimas/efeitos adversos , Feminino , Doença de Gaucher/complicações , Doença de Gaucher/genética , Doença de Gaucher/cirurgia , Genótipo , Humanos , Hipertensão Portal/tratamento farmacológico , Hipertensão Portal/etiologia , Hipertensão Portal/genética , Hipertensão Portal/cirurgia , Fígado/patologia , Fígado/cirurgia , Cirrose Hepática/etiologia , Cirrose Hepática/genética , Cirrose Hepática/cirurgia , Masculino , Síndrome Metabólica/tratamento farmacológico , Síndrome Metabólica/etiologia , Síndrome Metabólica/genética , Síndrome Metabólica/cirurgia , Pessoa de Meia-Idade , Peptidil Dipeptidase A/genética , Esplenectomia/efeitos adversos , Vibração/efeitos adversos
19.
Medicine (Baltimore) ; 97(27): e11361, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29979419

RESUMO

RATIONALE: Gaucher disease (GD) is an autosomal recessive disorder that leads to multiorgan complications caused by ß-glucocerebrosidase deficiency due to mutations in the ß-glucocerebrosidase-encoding gene (GBA). GD morbidity in Japan is quite rare and clinical phenotype and gene mutation patterns of patients with GD in Japan and Western countries differ considerably. Of Japanese patients with GD, 57% develop types 2 or 3 GD with neurologic manifestations and younger onset, whereas only 6% of patients with GD develop those manifestations in Western countries. Thus, it is relatively difficult to find and diagnose GD in Japan. PATIENT CONCERNS: A 69-year-old Japanese female with mild anemia and thrombocytopenia but without neurologic symptoms was initially referred for gastric cancer. Preoperative F-deoxyglucose positron emission tomography/computed tomography (FDG PET/CT) showed accumulation in the bone marrow and paraabdominal lymph nodes. Following bone marrow aspiration found, abnormal foamy macrophages in the bone marrow and electron microscopy revealed that the macrophages were filled with tubular-form structures. Adding to these signs suggestive of a lysosomal disease, serum ß-glucocerebrosidase activity test found decreased. Sequencing of the patient's GBA gene revealed a RecNciI recombinant mutation and the novel mutation K157R (c.587A>G). DIAGNOSES: On the basis of these findings and clinical manifestations, the final diagnosis of type 1 GD was made. INTERVENTIONS: Enzyme replacement therapy (ERT) with velaglucerase α was started after the diagnosis of type 1 GD. OUTCOMES: The patient's ß-glucocerebrosidase activity as well as hemoglobin and platelet levels were restored by ERT without any side effects. Bone marrow aspirations 10 months after the start of the treatment with velaglucerase α showed reduction of Gaucher cells in bone marrow to 2% from 4% of total cellularity. LESSONS: This is the first report of F-FDG PET/CT application providing a clue for GD diagnosis. A novel mutation in GBA is described, which implies a potential pool of patients with GD with this mutation in Japan.


Assuntos
Doença de Gaucher/genética , Glucosilceramidase/genética , Neoplasias Gástricas/genética , Idoso , Grupo com Ancestrais do Continente Asiático , Medula Óssea/patologia , Terapia de Reposição de Enzimas/métodos , Feminino , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Humanos , Japão , Mutação , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Estômago/patologia , Neoplasias Gástricas/complicações
20.
Am J Nurs ; 118(6): 36-42, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29750678

RESUMO

: Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid ß-glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. Gaucher disease is clinically classified into one of three phenotypes, depending on the absence or presence of neurodegenerative disease and the rate of disease progression. Although there is no cure for Gaucher disease, it may be treated with enzyme replacement and substrate reduction therapy. With the development of enzyme testing through dried blood spots, Gaucher disease may now be detected at birth through newborn screening. The purpose of this article is to review the epidemiology and pathophysiology of Gaucher disease, update nurses on advances in newborn screening, diagnosis, and management of this genetic disorder, and highlight the role of nurses in the diagnosis and care of patients with Gaucher disease.


Assuntos
Doença de Gaucher/enfermagem , Papel do Profissional de Enfermagem , Pré-Escolar , Terapia de Reposição de Enzimas/enfermagem , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Doença de Gaucher/genética , Glucosiltransferases/uso terapêutico , Humanos , Lactente , Recém-Nascido
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