Assuntos
Anti-Hipertensivos/administração & dosagem , Hipertensão/diagnóstico , Hipertensão/tratamento farmacológico , Adolescente , Distribuição por Idade , Pressão Sanguínea , Determinação da Pressão Arterial , Estatura , Brasil , Criança , Vias de Administração de Medicamentos , Esquema de Medicação , Feminino , Humanos , Hipertensão/etiologia , Masculino , Exame Físico , Distribuição por SexoRESUMO
Primary hyperoxaluria type 1 (PH1) is a rare autosomal (2q37.3) recessive metabolic disease caused by a deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate amino transferase. Molecular heterogeneity is important in PH1 as most of the patients (if the parents are unrelated) are compound heterozygotes for rare mutations. We describe the first large deletion in the AGXT gene, removing exons 1 to 7 (EX1_EX7del) that was responsible for one case of severe PH1. This 10 kb deletion was identified by Southern blotting of genomic DNA digested by Xba I and hybridized with different exonic probes. Both parents (from Turkey) are first cousin and carry the deletion. It is of note that the presently reported patient did not exhibit any AGT catalytic activity and even so, he progressed towards end-stage renal disease only at 19 years old.
Assuntos
Deleção de Genes , Hiperoxalúria Primária/enzimologia , Hiperoxalúria Primária/genética , Transaminases/genética , Adulto , Southern Blotting , Quebra Cromossômica , Humanos , Hiperoxalúria Primária/complicações , Masculino , Transaminases/deficiência , TurquiaRESUMO
Beneath its apparent simplicity, the urinary dipstick is one of the most important advances in the current diagnosis procedure in pediatric nephro-urology. This test represents the best way to approach the most frequent conditions, i.e., urinary tract infection, hematuria and proteinuria. It therefore offers reliable information at a very low financial cost.
