RESUMO
Human nephrotic syndrome has been related to mutations in glomerular proteins. Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome. It has been advised to test for NPHS2 mutations in parallel or before giving steroid treatment in nephrotic syndrome patients in order to avoid unnecessary therapy. We identified NPHS2 mutations in Mexican children with nephrotic syndrome. The study included 13 children with nephrotic syndrome and 2 healthy control individuals; 8 patients were steroid-resistant and 5 were steroid-sensitive. We analyzed the 3rd exon of NPHS2 by DNA sequencing. Podocin heterozygous missense mutations L139R and L142P were found; the former was found in both steroid-sensitive and steroid-resistant children, while the latter was found in a steroid-resistant child. We conclude that NPHS2 mutations should be investigated to help decide the course of treatment in nephrotic syndrome patients.
Assuntos
Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas de Membrana/genética , Síndrome Nefrótica/congênito , Prednisona/administração & dosagem , Estudos de Casos e Controles , Pré-Escolar , Esquema de Medicação , Evolução Molecular , Éxons , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/química , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Proteínas de Membrana/química , Proteínas de Membrana/metabolismo , Mutação de Sentido Incorreto , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/genética , Prednisona/uso terapêutico , Alinhamento de Sequência , Análise de Sequência de DNARESUMO
The aim of this study was to develop a simple method for quantifying plasma levels of sildenafil and its metabolite by liquid chromatography with a C18 reverse-phase column and UV detection. For both compounds, linearity was assessed in the range from 10 and 1 000 ng · ml-1 and had correlation coefficients of r=0.995 and r=0.997 for sildenafil and its metabolite, respectively. The inter- and intra-day coefficients of variation was<5.3%. The limits of detection and quantification were 1 and 10 ng · ml-1. Drug levels were determined satisfactorily in two patients. A simple and reliable method was developed for use in children with Pulmonary Arterial Hypertension under treatment with sildenafil.
Assuntos
Cromatografia Líquida de Alta Pressão/métodos , Inibidores da Fosfodiesterase 5/sangue , Piperazinas/sangue , Sulfonas/sangue , Criança , Humanos , Purinas/sangue , Citrato de SildenafilaRESUMO
PURPOSE: The aim was to prepare and evaluate unitary doses of propafenone (UDP) used in children with supraventricular tachycardia. METHODS: UDP were prepared from four brands of tablets at doses of propafenone, 11, 25 and 90 mg, used in the Cardiology Service of this Institute. The stability of doses was determined at 20±5°C and 40°C for up to day 30. Besides, a weight variation test was performed. Plasma levels of propafenone were determined at steady state in 3 children diagnosed with supraventricular tachycardia under treatment with UDP. Concentrations of drug in blood were measured using a high pressure liquid chromatography method, previously validated. RESULTS: The stability of UDP, showed no significant statistical differences (p > 0.05) between doses or brands up to day 30, at both temperatures. The coefficient of variation from the weight variation was less than 6%. The plasma levels of propafenone at steady state were: patient 1, 31.57 ng/ml; patient 2, 226.46 ng/ml; and patient 3, 221.29 ng/ml. CONCLUSIONS: The actual administered dose for the patients could vary up to 6%, and doses prepared from different brands of tablets remain stables for up to day 30 at both temperatures. UDP is a temporal, safe and alternative option when pediatrics formulation of this drug is lacking.
Assuntos
Antiarrítmicos/uso terapêutico , Propafenona/administração & dosagem , Taquicardia Supraventricular/tratamento farmacológico , Criança , Humanos , Projetos Piloto , Propafenona/sangueAssuntos
Infecções Urinárias/etiologia , Micção , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Infecções Urinárias/fisiopatologiaRESUMO
Se informa el caso de un adolescente de 14 anos de edad que ingreso al Hospital del Nino del Noroeste DIF, por presentar cuadro clinico y bioquimico de insuficiencia renal aguda, estableciendose el diagnostico de leucemia un dia antes de su fallecimiento. El estudio postmortem revelo crecimiento renal bilateral por infiltracion de celulas leucemicas. Se describe el caso en sus aspectos clinicos; de laboratorio y anatomopatologicos mas sobresalientes ademas se enfatiza la necesidad de hacer diagnostico diferencial con leucemia ante un paciente con insuficiencia renal aguda y pancitopenia periferica
Assuntos
Adolescente , Humanos , Masculino , Injúria Renal Aguda , Leucemia Linfoide , LinfomaRESUMO
Se presentan dos casos de hiperbilirrubinemia familiar no conjugada (enfermedad de Gilbert), detectada en dos hermanos, uno del sexo masculino de 12 anos de edad, con manifestacion clinica (ictericia) apreciada desde la primera semana de vida, con remision y reaparicion a los 5 anos, cursando posteriormente asignologico y asintomatico hasta su admision al hospital; el otro, una hermana de 15 anos de edad cuyos sintomas se iniciaron a los 12 anos. Se practicaron diversos examenes de laboratorio tendientes a descartar padecimientos tales como anemias hemoliticas, hepatitis persistente, enfermedad de Crigler-Najjar, Dubin-Johnson y sindrome de Rotor.Se practico biopsia hepatica y estudio de medula osea resultado normales. El unico parametro de laboratorio alterado fue elevacion de bilirrubina no conjugada de manera moderada hasta 6 mg/dl; por exclusion se diagnostico enfermedad de Gilbert, instalandose prueba terapeutica con excelentes resultados