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1.
J Inherit Metab Dis ; 29(6): 763, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17103011

RESUMO

Hyper-IgD and periodic fever syndrome (HIDS) is a hereditary autoinflammatory syndrome, characterized by recurrent inflammatory attacks. Treatment of HIDS is difficult. Recently, the IL-1ra analogue anakinra was reported to be successful in aborting the IgD inflammatory attacks in a vaccination model. We report a clinical case of spectacular reduction of febrile attacks in a severe HIDS patient.


Assuntos
Febre/terapia , Hipergamaglobulinemia/complicações , Hipergamaglobulinemia/terapia , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Febre/etiologia , Humanos , Imunoglobulina D/química , Inflamação , Síndrome
4.
J Pediatr Urol ; 6(5): 522-4, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20598642

RESUMO

OBJECTIVE: We report a case of laparoscopic nephrectomy of a cross-fused ectopic kidney in a 4-year-old girl with renal hypertension and Fanconi anemia. MATERIALS AND METHODS: We performed a transperitoneal laparoscopy. Ectopic kidney resection was done after dissection of the pathological kidney and after clamping vessels, using an ultrasonic device. Hospitalization time was 4 days. RESULTS: At 6 months, blood pressure was normalized and the patient showed an adequate growth curve. CONCLUSION: The transperitoneal route is very effective when a nephrectomy is necessary. It offers perfect exposure with limited risk of complications.


Assuntos
Anemia de Fanconi/complicações , Hipertensão Renal/etiologia , Rim/anormalidades , Laparoscopia/métodos , Nefrectomia/métodos , Pré-Escolar , Feminino , Humanos , Hipertensão Renal/cirurgia , Rim/irrigação sanguínea , Rim/cirurgia , Imageamento por Ressonância Magnética
5.
Clin Pharmacol Ther ; 86(6): 609-18, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19865079

RESUMO

The aim of this study was to develop a population pharmacokinetic model of tacrolimus in pediatric kidney transplant patients, identify factors that explain variability, and determine dosage regimens. Pharmacokinetic samples were collected from 50 de novo pediatric kidney transplant patients (age 2-18 years) who were on tacrolimus treatment. Population pharmacokinetic analysis of tacrolimus was performed using NONMEM, and the impact of variables (demographic and clinical factors, and CYP3A4-A5, ABCB1, and ABCC2 polymorphisms) was tested. The pharmacokinetic data were described by a two-compartment model that incorporated first-order absorption and lag time. The apparent oral clearance (CL/F) was significantly related to body weight (allometric scaling); in addition, it was higher in patients with low hematocrit levels and lower in patients with CYP3A5*3/*3. The population pharmacokinetic-pharmacogenetic model developed in de novo pediatric kidney transplant patients demonstrated that, in children, tacrolimus dosage should be based on weight, hematocrit levels, and CYP3A5 polymorphism. Individualization of therapy will enable the optimization of tacrolimus exposure, with resultant beneficial effects on kidney function in the initial post-transplantation period.


Assuntos
Citocromo P-450 CYP3A/genética , Imunossupressores/farmacocinética , Transplante de Rim , Modelos Biológicos , Polimorfismo Genético , Tacrolimo/farmacocinética , Subfamília B de Transportador de Cassetes de Ligação de ATP , Membro 1 da Subfamília B de Cassetes de Ligação de ATP/genética , Membro 1 da Subfamília B de Cassetes de Ligação de ATP/metabolismo , Adolescente , Fatores Etários , Peso Corporal , Criança , Pré-Escolar , Citocromo P-450 CYP3A/metabolismo , Cálculos da Dosagem de Medicamento , Monitoramento de Medicamentos , Quimioterapia Combinada , Feminino , França , Hematócrito , Humanos , Imunossupressores/administração & dosagem , Masculino , Proteína 2 Associada à Farmacorresistência Múltipla , Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética , Proteínas Associadas à Resistência a Múltiplos Medicamentos/metabolismo , Reprodutibilidade dos Testes , Tacrolimo/administração & dosagem , Resultado do Tratamento
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