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1.
Medicine (Baltimore) ; 99(35): e21934, 2020 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-32871935

RESUMO

RATIONALE: We report a case of central retinal artery occlusion (CRAO) accompanied by choroidal folds in a patient positive for myeloperoxidase (MPO)-antineutrophil cytoplasmic antibody (ANCA). PATIENT CONCERNS: The study involved a 67-year-old female patient who presented at the Department of Ophthalmology, Osaka Medical College, Takatsuki-City, Osaka, Japan on October 24, 2016 after becoming aware of a sudden decrease of visual acuity (VA) in her right eye. Other than suffering with scleritis 6-months previous, there was no obvious past history. DIAGNOSIS: Upon examination, the VA in her right eye was hand motion, and the anterior segment of that eye showed thinning of the superior sclera. Macular edema in the inner retina and cherry red spots were observed in the ocular fundus, and optical coherence tomography (OCT) findings showed hyperreflectivity of the inner retina and choroidal folds. Fluorescein angiography (FA) examination of the fundus showed scattered areas of no retinal perfusion, and indocyanine green angiography (IA) findings of the fundus indicated a possible choroidal circulatory disturbance in her right eye. Blood test findings revealed the patient to be positive for MPO-ANCA. Based on the above findings, the patient was diagnosed with CRAO and choroidal circulatory disturbance due to ANCA-associated vasculitis. INTERVENTIONS: For treatment, steroid semi-pulse therapy was initiated. OUTCOMES: Post treatment initiation, the fundus features and choroidal folds gradually improved, and her VA slightly improved to 0.08. LESSONS: Based on the FA, IA, and OCT findings, the present case was considered to have CRAO accompanied by choroidal circulatory disturbance due to ANCA-associated vasculitis, a rare disease that may be complicated by choroidal circulatory disturbances.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/complicações , Doenças da Coroide/etiologia , Oclusão da Artéria Retiniana/etiologia , Idoso , Anti-Inflamatórios/administração & dosagem , Azatioprina/administração & dosagem , Doenças da Coroide/diagnóstico por imagem , Doenças da Coroide/tratamento farmacológico , Feminino , Angiofluoresceinografia , Glucocorticoides/administração & dosagem , Humanos , Prednisolona/administração & dosagem , Pulsoterapia , Oclusão da Artéria Retiniana/diagnóstico por imagem , Oclusão da Artéria Retiniana/tratamento farmacológico , Tomografia de Coerência Óptica , Baixa Visão/etiologia
2.
Aliment Pharmacol Ther ; 52(3): 459-470, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32598049

RESUMO

BACKGROUND: The association between NUDT15 polymorphisms and thiopurine-induced leucopenia is well known. AIM: To investigate the association between NUDT15 polymorphisms and time-to-leucopenia in paediatric patients with inflammatory bowel disease (IBD) receiving azathioprine and to determine the relationship between NUDT15 polymorphisms and 6-thioguanine nucleotide (6-TGN) levels. METHODS: This retrospective observational study included Korean paediatric patients with IBD who were treated with azathioprine and underwent NUDT15 and TPMT genotyping. Azathioprine doses were adjusted by regular thiopurine metabolite monitoring. Factors associated with time-to-leucopenia and the relationship between NUDT15 polymorphisms and 6-TGN levels were analysed. RESULTS: Among the 167 patients included, leucopenia was observed in 16% (19/119), 44% (20/45) and 100% (3/3) of the NUDT15 normal, intermediate and poor metabolisers respectively (P < 0.001). NUDT15 polymorphism was significantly associated with time-to-leucopenia (HR = 5.26, 95% CI = 2.74-10.09, P < 0.001). There was a positive association between 6-TGN levels and leucopenia among the NUDT15 intermediate/TPMT normal metabolisers (median 361.3 vs 263.8 pmol/8 × 108 RBC, P = 0.013). The most accurate 6-TGN cut-off level associated with leucopenia was 308.2 pmol/8 × 108 RBC (AUC = 0.742, 95% CI = 0.569-0.915, sensitivity 80.0%, specificity 72.7%, P < 0.001) in this subgroup. When the specificity was set to <15%, the 6-TGN cut-off level was 167.1 pmol/8 × 108 RBC (sensitivity 93.3%, specificity 13.6%). CONCLUSIONS: NUDT15 polymorphisms were associated with time-to-leucopenia during azathioprine treatment in Korean paediatric patients with IBD. In order to reduce the development of thiopurine-induced leucopenia (<15%) in NUDT15 intermediate metabolisers, adjustment of azathioprine doses should be based on a lower 6-TGN target level (<167.1 pmol/8 × 108 RBC).


Assuntos
Azatioprina/administração & dosagem , Nucleotídeos de Guanina/sangue , Imunossupressores/administração & dosagem , Doenças Inflamatórias Intestinais/tratamento farmacológico , Leucopenia/induzido quimicamente , Pirofosfatases/genética , Tionucleotídeos/sangue , Adolescente , Azatioprina/efeitos adversos , Criança , Feminino , Humanos , Imunossupressores/efeitos adversos , Doenças Inflamatórias Intestinais/sangue , Doenças Inflamatórias Intestinais/genética , Leucopenia/sangue , Leucopenia/genética , Leucopenia/prevenção & controle , Masculino , Metiltransferases/genética , Polimorfismo Genético
5.
Autoimmun Rev ; 19(9): 102525, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32240856

RESUMO

Azathioprine (AZA), an oral immunosuppressant, is safe during pregnancy. Some reports suggested different impairments in the offspring of mothers with autoimmune diseases (AI) exposed in utero to AZA. These observations are available from retrospective studies or case reports. However, data with respect to the long-term safety in the antenatally exposed child are still lacking. The aim of this study is to summarize the current knowledge in this field and to focus on the need for a prospective study on this population. We performed a PubMed search using several search terms. The actual data show that although the risk of congenital anomalies in offspring, as well as the infertility risk, are similar to those found in general population, there is a higher incidence of prematurity, of lower weight at birth and an intra-uterine delay of development. There is also an increased risk of materno- fetal infections, especially cytomegalovirus infection. Some authors raise the interrogations about neurocognitive impairment. Even though the adverse outcomes might well be a consequence of maternal illness and disease activity, interest has been raised about a contribution of this drug. However, the interferences between the external agent (in utero exposure to AZA), with the host (child genetic susceptibility, immune system anomalies, emotional status), environment (public health, social context, availability of health care), economic, social, and behavioral conditions, cultural patterns, are complex and represent confounding factors. In conclusion, it is necessary to perform studies on the medium and long-term outcome of children born by mothers with autoimmune diseases, treated with AZA, in order to show the safety of AZA exposure. Only large-scale population studies with long-term follow-up will allow to formally conclude in this field. TAKE HOME MESSAGES.


Assuntos
Doenças Autoimunes/tratamento farmacológico , Azatioprina/administração & dosagem , Azatioprina/efeitos adversos , Complicações na Gravidez/tratamento farmacológico , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Azatioprina/uso terapêutico , Criança , Feminino , Humanos , Imunossupressores/administração & dosagem , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Gravidez , Estudos Retrospectivos
8.
Rinsho Shinkeigaku ; 60(3): 200-205, 2020 Mar 31.
Artigo em Japonês | MEDLINE | ID: mdl-32101843

RESUMO

A 51-year-old man with a past history of hypothyroidism suddenly became comatose after a few days of general malaise and headache. On admission to our hospital, his consciousness level was Japan Coma Scale III-200, but no focal neurological deficits were evident. Serum anti-thyroglobulin antibody was >4,000 IU/ml and anti-thyroid peroxidase antibody was 265 IU/ml. Well characterized neuronal antibodies were not fully examined in this case, but based on high titers of serum thyroid antibodies, methylprednisolone pulse therapy was started under diagnosis of suspected Hashimoto encephalopathy. Although methylprednisolone pulse therapy was effective, every time the dose of oral prednisolone was reduced, relapse attacks similar to the first episode occurred, a total of seven times. At each relapse, cerebrospinal fluid findings and MRI findings were normal. Plasmapheresis and azathioprine were added, until two years after onset, when further acute neurological attacks no longer occurred, but attention and memory impairments persisted. Relapse in Hashimoto encephalopathy is not rare; careful, long-term follow-up is needed.


Assuntos
Doença de Hashimoto/diagnóstico , Doença de Hashimoto/terapia , Imunoterapia , Autoanticorpos/sangue , Azatioprina/administração & dosagem , Biomarcadores/sangue , Humanos , Masculino , Metilprednisolona/administração & dosagem , Pessoa de Meia-Idade , Troca Plasmática , Prednisolona/administração & dosagem , Pulsoterapia , Recidiva , Tireoglobulina/imunologia
9.
Pharmacogenet Genomics ; 30(1): 1-4, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31651720

RESUMO

TPMT and NUDT15 polymorphisms are major determinants of tolerance to thiopurine drugs used in leukemias and nonmalignant immunologic disorders. We adopted an extreme discordant phenotype approach to explore the impact of Native American versus European ancestry on the distribution of TPMT and NUDT15 polymorphisms, and inferred metabolic phenotypes in the 1000 Genomes Ad Mixed American superpopulation. Significant differences were observed in the distribution of TPMT and NUDT15 haplotypes (star alleles) between individuals with predominant (>70%) European versus Native ancestry. The largest difference is related to NUDT15 rs116855232. Based on the combined TPMT/NUDT15 metabolic phenotypes, the Clinical Pharmacogenetics Implementation Consortium recommendations for thiopurine dose adjustment applies to 40.1% of individuals with major Native American ancestry, compared to 12.8% of individuals with predominantly European ancestry. These findings may be relevant to the adoption and interpretation of pharmacogenetic tests for thiopurine drugs across Latin America peoples with different European and Native-American ancestries.


Assuntos
Azatioprina/administração & dosagem , Grupo com Ancestrais do Continente Europeu/genética , Índios Norte-Americanos/genética , Metiltransferases/genética , Polimorfismo de Nucleotídeo Único , Pirofosfatases/genética , Antimetabólitos , Genótipo , Haplótipos , Humanos , América Latina/etnologia , Variantes Farmacogenômicos , Purinas
10.
Rev Med Chil ; 147(7): 836-841, 2019 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-31859981

RESUMO

BACKGROUND: Autoimmune hemolytic anemia (AIHA) is an uncommon disease. In its presentation, it can be severe and even lethal. There is only one clinical report concerning this pathology in Chile. OBJECTIVE: To describe the clinical characteristics and evolution of adult AIHA inpatients. MATERIALS AND METHODS: Retrospective review of clinical records of adult AIHA inpatients between January 2010 and June 2018 was done. Demographic, clinical, laboratory and therapeutic information was analyzed. A descriptive, analytical and survival analysis was performed. RESULTS: Forty-three adult patients diagnosed with AHIA were hospitalized in a period of 8 years. Median age was 63 years (range 22-86 years), mostly women (72%). Warm antibodies were detected in 36 cases (84%) and cold antibodies in seven. Seventy two percent of the patients had an underlying cause, and 58% were secondary to lymphoproliferative neoplasms. All patients except two, received steroids as initial treatment, with response in 37 (90%) of them. Three refractory patients received rituximab, with response in all of them, and relapse in one. Median follow-up was 38 months (range 2-98 months). Five year overall survival was 72%. CONCLUSION: AHIA in adults inpatients is a heterogeneous disease, mainly due to warm antibodies, and to secondary etiology.


Assuntos
Anemia Hemolítica Autoimune/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Anemia Hemolítica Autoimune/mortalidade , Anemia Hemolítica Autoimune/terapia , Azatioprina/administração & dosagem , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Rituximab/administração & dosagem , Esplenectomia , Análise de Sobrevida , Adulto Jovem
12.
Eur J Clin Pharmacol ; 75(12): 1669-1674, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31587102

RESUMO

PURPOSE: Many patients with Crohn's disease (CD) and ulcerative colitis (UC) who have a high 6-methylmercaptopurine/6-thioguanine (6-MMP/6-TGN) ratio receive allopurinol 100 mg in addition to thiopurines to optimize metabolite concentrations. However, some patients do not tolerate allopurinol at this dosage. The aim of this study was to determine the intra-patient effect of reducing the allopurinol dosage from 100 to 50 mg, in terms of metabolite concentrations, enzyme activities, efficacy, and tolerability. METHODS: A prospective non-inferiority one-way crossover study was performed. CD and UC patients with stable disease using a thiopurine and allopurinol 100 mg were switched to 50 mg for 1 month. Primary outcomes were thiopurine metabolite concentrations. Secondary outcomes were enzyme activities of xanthine oxidase, thiopurine methyltransferase and hypoxanthine-guanine phosphoribosyltransferase, disease activity, and tolerability. RESULTS: Twenty-two patients were included. Treatment with allopurinol 50 mg compared with 100 mg resulted in a significant decrease in mean 6-TGN levels (761 to 625 pmol/8 × 108 RBC; p = 0.005) and a significant increase in mean 6-MMP levels (451 to 665 pmol/8 × 108 RBC; p = 0.01). However, the mean metabolite concentrations were still therapeutic. Enzyme activities, disease activity scores, and patient experiences did not alter significantly. Generally, UC patients were more positive about their improved treatment than CD patients. CONCLUSION: Combination therapy with 50 mg allopurinol led to a decrease of 6-TGN levels compared with 100 mg allopurinol. Disease activity, side effects, and patient experience, however, were similar between allopurinol 100 and 50 mg. UC patients seem to benefit and prefer lower doses whereas the contrary is seen in CD patients. TRIAL REGISTRATION: EudraCT trial registry - number 2016-001638-84.


Assuntos
Alopurinol/administração & dosagem , Azatioprina/administração & dosagem , Colite Ulcerativa/tratamento farmacológico , Doença de Crohn/tratamento farmacológico , Mercaptopurina/análogos & derivados , Adulto , Idoso , Alopurinol/efeitos adversos , Colite Ulcerativa/metabolismo , Doença de Crohn/metabolismo , Estudos Cross-Over , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Feminino , Humanos , Masculino , Mercaptopurina/administração & dosagem , Mercaptopurina/metabolismo , Metiltransferases/metabolismo , Pessoa de Meia-Idade , Estudos Prospectivos , Tioguanina/metabolismo
14.
Aliment Pharmacol Ther ; 50(7): 780-788, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31429097

RESUMO

BACKGROUND: Thiopurines are the most widely used immunosuppressants in IBD although drug-related adverse events (AE) occur in 20%-30% of cases. AIM: To evaluate the safety of thiopurines in elderly IBD patients METHODS: Cohort study including all adult patients in the ENEIDA registry who received thiopurines. Patients were grouped in terms of age at the beginning of thiopurine treatment, specifically in those who started thiopurines over 60 years or between 18 and 50 years of age. Thiopurine-related AEs registered in the ENEIDA database were compared. RESULTS: Out of 48 752 patients, 1888 started thiopurines when over 60 years of age and 15 477 under 50 years of age. Median treatment duration was significantly shorter for those who started thiopurines >60 years (13 [IQR 2-55] vs 32 [IQR 5-82] months; P < .001). Patients starting >60 years had higher rates of all types of myelotoxicity, digestive intolerance and hepatotoxicity. Thiopurines were discontinued due to AEs (excluding malignancies and infections) in more patients starting >60 years (67.2% vs 63.1%; P < .001). Elderly age and female sex were independent risk factors for most AEs. CONCLUSION: In elderly IBD patients, thiopurines are associated with an increased risk of non-infectious, non-neoplastic, AEs.


Assuntos
Azatioprina/efeitos adversos , Imunossupressores/efeitos adversos , Doenças Inflamatórias Intestinais/tratamento farmacológico , Mercaptopurina/efeitos adversos , Adulto , Idoso , Azatioprina/administração & dosagem , Estudos de Coortes , Bases de Dados Factuais , Feminino , Humanos , Imunossupressores/administração & dosagem , Masculino , Mercaptopurina/administração & dosagem , Pessoa de Meia-Idade , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco
15.
Clin Respir J ; 13(12): 791-794, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31464073

RESUMO

INTRODUCTION: The optimal pharmacological management of chronic hypersensitivity pneumonitis (cHP) is unknown. Corticosteroids are often used as first line therapy but can be associated with side effects. There is a paucity of data examining the role of steroid-sparing agents in cHP. We aimed to determine the effect of mycophenolate mofetil (MMF) and azathioprine (AZA) on lung function and prednisolone dose in cHP patients. METHODS: Retrospective analysis of patients initiated on either MMF or AZA following a multidisciplinary team diagnosis of cHP. Changes in lung function and prednisolone dose up to 12 months before and after MMF/AZA initiation were analysed. RESULTS: Twenty two out of 30 patients remained on treatment at 12 months (18 MMF, 4 AZA). Steroid-sparing therapy resulted in a significant reduction in prednisolone dose from 16.2 ± 9.7 to 8.2 ± 4.2 mg daily (P = 0.002). Treatment with MMF or AZA for 12 months was associated with a significant improvement in carbon monoxide diffusing capacity (TLCO) (-0.55 ± 0.96 vs. +0.31 ± 0.58 mmol/kPa/min, P = 0.02). Although treatment reduced the rate of forced vital capacity decline (-111 ± 295 vs. +2.3 ± 319 mL), it was not significant (P = 0.22). CONCLUSION: MMF or AZA therapy in cHP is associated with an improvement in TLCO and reduction in prednisolone dose. There is a need for prospective trials.


Assuntos
Alveolite Alérgica Extrínseca/tratamento farmacológico , Azatioprina/uso terapêutico , Inibidores Enzimáticos/uso terapêutico , Imunossupressores/uso terapêutico , Ácido Micofenólico/uso terapêutico , Corticosteroides/uso terapêutico , Idoso , Alveolite Alérgica Extrínseca/diagnóstico , Alveolite Alérgica Extrínseca/fisiopatologia , Azatioprina/administração & dosagem , Monóxido de Carbono/metabolismo , Doença Crônica , Quimioterapia Combinada , Inibidores Enzimáticos/administração & dosagem , Feminino , Humanos , Imunossupressores/administração & dosagem , Masculino , Pessoa de Meia-Idade , Ácido Micofenólico/administração & dosagem , Prednisolona/uso terapêutico , Capacidade de Difusão Pulmonar/efeitos dos fármacos , Testes de Função Respiratória/métodos , Estudos Retrospectivos , Capacidade Vital/efeitos dos fármacos
16.
J Med Case Rep ; 13(1): 241, 2019 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-31376837

RESUMO

BACKGROUND: Antisynthetase syndrome is a relatively uncommon entity, and can be easily missed if not specifically looked for in adults whose initial presentation is with interstitial lung disease. Its presentation with interstitial lung disease alters its prognosis. CASE PRESENTATION: This case report describes a 27-year-old Pakistani, Asian man, a medical student, with no previous comorbidities or significant family history who presented with a 3 months' history of low grade fever and lower respiratory tract infections, associated with exertional dyspnea, arthralgias, and gradual weight loss. During these 3 months, he had received multiple orally administered antibiotics for suspected community-acquired pneumonia. When he presented to us, he was pale and febrile. A chest examination was significant for bi-basal end-inspiratory crackles. Preliminary investigations revealed raised erythrocyte sedimentation rate. High resolution computed tomography of his chest showed fine ground-glass attenuation in posterior basal segments of both lower lobes suggestive of interstitial lung disease. He was started on dexamethasone, to which he responded and showed improvement. However, during the course of events, he developed progressive proximal muscle weakness. Further investigations revealed raised creatinine phosphokinase and lactate dehydrogenase. A thorough autoimmune profile was carried out which showed positive anti-Jo-1 antibodies in high titers. A muscle biopsy was consistent with inflammatory myopathy. Clinical, radiological, serological, and histopathological markers aided in making the definitive diagnosis of antisynthetase syndrome. Antisynthetase syndrome is a variant of polymyositis but with visceral involvement, that is, interstitial lung disease and positive anti-Jo-1 antibodies. Our patient responded very well to glucocorticoids and azathioprine. CONCLUSION: Antisynthetase syndrome is a rare clinical entity which apart from clinical presentation requires specific serological investigations for diagnosis. Concomitant association of interstitial lung disease gives it a guarded prognosis.


Assuntos
Miosite/diagnóstico , Adulto , Anticorpos Antinucleares/sangue , Autoanticorpos/sangue , Azatioprina/administração & dosagem , Creatina Quinase/sangue , Diagnóstico Diferencial , Dispneia/etiologia , Humanos , Doenças Pulmonares Intersticiais/diagnóstico , Masculino , Debilidade Muscular/etiologia , Miosite/tratamento farmacológico , Prednisolona/administração & dosagem , Prednisolona/análogos & derivados
17.
Dermatol Ther ; 32(5): e13057, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31400243

RESUMO

Steroid pulse therapy has shown satisfactory efficacy and safety in treating pemphigus vulgaris (PV). However, there is a paucity of data about the efficacy and safety of methylprednisolone, despite its frequent administration. The aim of this study is to evaluate the efficacy and safety of steroid pulse therapy in treating PV. In this 10-year retrospective cohort study, 312 patients with PV, who had received methylprednisolone pulse therapy, were included. Data of pulse therapy sessions, adjuvant medications, dosages, remission rates, complications, and mortalities were collected from all patients. A total of 276 patients out of 312 underwent the final follow-up at least 6 months after the last session of pulse therapy. Complete remission off therapy was achieved in 83 patients (30%), and 152 patients (55%) had complete remission on therapy. About 29 (10.5%) patients had lesions of pemphigus at the time of the study follow-up, and 26.8% of remained patients were on the minimal therapy. Methylprednisolone pulse therapy could be considered as an option for proper control of PV in severe cases. It might lead to shorter periods of hospitalization and reduce the need to take long-term high-dose oral steroid therapy.


Assuntos
Azatioprina/administração & dosagem , Ciclofosfamida/administração & dosagem , Metilprednisolona/administração & dosagem , Pênfigo/diagnóstico , Pênfigo/tratamento farmacológico , Administração Oral , Adulto , Quimioterapia Adjuvante , Estudos de Coortes , Quimioterapia Combinada , Feminino , Seguimentos , Humanos , Imunossupressores/administração & dosagem , Infusões Intravenosas , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Pulsoterapia , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do Tratamento
18.
Dig Dis Sci ; 64(9): 2395-2403, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31290039

RESUMO

Thiopurines have been widely used for the maintenance of remission or steroid sparing in patients with inflammatory bowel disease. However, potential drug-related adverse events frequently interfere with their use. Indeed, drug withdrawals associated with adverse reactions have been reported in approximately 25% of patients. To balance the efficacy, safety, and tolerability of thiopurines, regular monitoring of biomarkers (complete blood cell count, liver function test, and metabolic profiles), steady dose escalation, and pretreatment thiopurine S-methyltransferase (TPMT) genotype screening have been routinely recommended. However, the complex thiopurine metabolic pathway and individual differences attributed to pharmacogenetic diversity limit the effectiveness of these strategies in the optimization of thiopurine therapy. Recently, in an effort to facilitate more accurate and personalized prediction of thiopurine response or toxicity, novel genetic markers including NUDT15 and FTO genes were discovered. These discoveries are remarkable because TPMT screening has minimal efficacy for predicting myelosuppression especially in Asian populations, despite the fact that thee populations have a higher frequency of myelosuppression than Western populations. This review focuses on the current understanding of the metabolic pathway and the pharmacogenetics of thiopurines and suggests a personalized preventive strategy against potential adverse drug reactions to optimize their therapeutic application.


Assuntos
Azatioprina/efeitos adversos , Azatioprina/metabolismo , Colite Ulcerativa/tratamento farmacológico , Doença de Crohn/tratamento farmacológico , Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Azatioprina/administração & dosagem , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/prevenção & controle , Humanos , Mercaptopurina/administração & dosagem , Mercaptopurina/efeitos adversos , Mercaptopurina/metabolismo , Redes e Vias Metabólicas , Metiltransferases/genética , Testes Farmacogenômicos , Pirofosfatases/genética , Tioguanina/sangue
19.
Acta Haematol ; 142(4): 253-256, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31291615

RESUMO

Behçet's disease (BD) is a disorder characterized by systemic inflammation of multiple organs, including the intestines. Several studies have reported a relationship between myelodysplastic syndrome and BD, and trisomy 8 was frequently seen, especially in intestinal BD. However, the association of BD with primary myelofibrosis (PMF) has not been well documented. A 58-year-old Japanese female was diagnosed with PMF in 2014. The symptoms of PMF resolved with ruxolitinib. However, she developed fever and intestinal perforation due to multiple ulcers in the terminal ileum in 2017. Intestinal perforation recurred 1 month later, and the dose of ruxolitinib was tapered. After discontinuation of ruxolitinib, she presented with recurrent oral aphthous ulcers and uveitis. Subsequently, intestinal perforation recurred, and she was diagnosed with intestinal BD. Trisomy 8 was identified in her peripheral blood. She underwent steroid therapy, azathioprine, and infliximab. This case suggests relationships between PMF, trisomy 8, and BD.


Assuntos
Azatioprina/administração & dosagem , Síndrome de Behçet , Infliximab/administração & dosagem , Mielofibrose Primária , Esteroides/administração & dosagem , Trissomia , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/tratamento farmacológico , Síndrome de Behçet/genética , Síndrome de Behçet/patologia , Cromossomos Humanos Par 8/genética , Feminino , Humanos , Perfuração Intestinal/diagnóstico , Perfuração Intestinal/tratamento farmacológico , Perfuração Intestinal/genética , Perfuração Intestinal/patologia , Pessoa de Meia-Idade , Mielofibrose Primária/diagnóstico , Mielofibrose Primária/tratamento farmacológico , Mielofibrose Primária/genética , Mielofibrose Primária/patologia , Pirazóis/administração & dosagem , Trissomia/diagnóstico , Trissomia/genética , Trissomia/patologia
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