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1.
J Pediatr Endocrinol Metab ; 37(5): 413-418, 2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38624096

RESUMO

OBJECTIVES: Gaucher disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, and other organs. The accumulation of substrate causes inflammation, compromised cellular homeostasis, and disturbed autophagy. It has been hypothesized that this proinflammatory state of GD leads cytokines and chemokines release. As a result of inflammatory process, the cellular dysfunction caused by disruption of cellular signaling, organelle dysfunction, or autoimmune antibodies may affect endocrine profile of GD patients such as hormone levels, lipid profile, and bone mineral density status. METHODS: A total of 13 patients confirmed to have GD, 12 non-neuronopathic type and one subacute neuronopathic type, were enrolled in our study. RESULTS: The median treatment duration in the enzyme therapy was 13.33 years (9-26 years). At least one endocrinological abnormality was detected in blood tests of nine patients. Hyperinsulinism was the most common finding although fasting blood glucose levels HgbA1c levels were normal in all patients. Two patients had osteopenia, and osteoporosis was detected in two patients. Low HDL levels were detected in six patients, but HDL levels below 23 mg/dL associated with disease severity have been detected in two patients who have not receiving enzyme replacement therapy. None of patients had thyroidal dysfunction. CONCLUSIONS: This study had revealed endocrinological abnormalities in GD patients that have not led any severe morbidity in our patients. However, thyroid hormone abnormalities, insulin resistance, or lipid profile abnormalities may cause unpredictable comorbidities. Endocrinological assessment in GD patients in routine follow-up may prevent possible clinical manifestation in long term as well as can define efficacy of ERT on endocrine abnormalities.


Assuntos
Terapia de Reposição de Enzimas , Doença de Gaucher , Glucosilceramidase , Humanos , Doença de Gaucher/tratamento farmacológico , Doença de Gaucher/sangue , Masculino , Feminino , Adulto , Criança , Adolescente , Adulto Jovem , Glucosilceramidase/uso terapêutico , Seguimentos , Densidade Óssea/efeitos dos fármacos , Doenças do Sistema Endócrino/etiologia , Prognóstico , Biomarcadores/sangue , Biomarcadores/análise
2.
J Pediatr Endocrinol Metab ; 35(2): 273-277, 2022 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-34561975

RESUMO

OBJECTIVES: Enzyme replacement therapy (ERT) with alglucosidase alfa (rhGAA) has changed the fatal course of infantile Pompe disease, however, development of anti rhGAA antibodies and infusion-associated reactions (IAR) restrict the tolerability and effectiveness of the treatment. CASE PRESENTATION: We describe a successful concomitant immune tolerance induction (ITI) and desensitization protocols in a cross-reactive immunologic material (CRIM) negative 7-month-old male patient. At the age of 5 months and eighth dose of the ERT, the patient developed IAR and his rhGAA specific IgE was negative however, his rhGAA specific IgG titer was as high as 12,800. ITI therapy to suppress antibody formation and a desensitization protocol was devised to be given concomitantly. At the end of 5-week therapy, his fatigue and weakness improved profoundly and a control antidrug antibody level decreased at 800. At the time of the patient's follow up, he was still on ERT with desensitization at the age of 15 months without any reactions. CONCLUSIONS: This is the first report in the literature applying concomitant ITI and desensitization protocols in a CRIM negative infantile-onset Pompe disease patient successfully, hence the importance of the case.


Assuntos
Dessensibilização Imunológica/métodos , Terapia de Reposição de Enzimas/efeitos adversos , Doença de Depósito de Glicogênio Tipo II/tratamento farmacológico , alfa-Glucosidases/efeitos adversos , Reações Cruzadas , Humanos , Tolerância Imunológica , Imunoglobulina G/sangue , Lactente , Masculino , alfa-Glucosidases/imunologia
4.
J Pediatr Endocrinol Metab ; 34(6): 813-816, 2021 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-33819418

RESUMO

OBJECTIVES: Familial hyperphosphatemic tumoral calcinosis is a rare disorder characterized by hyperphosphatemia with recurrent ectopic periarticular calcifications, in addition to other visceral and vascular manifestations, without any inflammatory or neoplastic disorder. The available treatment strategies are limited. Here we report an eight year old female patient with recurrent lesions under the chin, and bilateral hips which are painful and improving of the size of the lesions and hyperphosphatemia. CASE PRESENTATION: The patient was started to the treatment with peroral acetazolamide however the lesion did not regress but a new lesion appeared then we added sevelamer and topical sodium thiosulfate treatment for three months. After the three months of the combination treatment the lesions, there were no pain, no hyperphospahtemia regression/disappearance of the lesions. CONCLUSIONS: This combination treatment or topical sodium thiosulfate use only may be a novel treatment strategy for the patients prospective controlled trials are needed.


Assuntos
Acetazolamida/uso terapêutico , Calcinose/tratamento farmacológico , Hiperfosfatemia/tratamento farmacológico , Sevelamer/uso terapêutico , Tiossulfatos/administração & dosagem , Administração Tópica , Anticonvulsivantes/uso terapêutico , Antioxidantes/administração & dosagem , Calcinose/complicações , Calcinose/patologia , Quelantes/uso terapêutico , Criança , Quimioterapia Combinada , Feminino , Humanos , Hiperfosfatemia/complicações , Hiperfosfatemia/patologia , Prognóstico
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