RESUMO
To examine the body's responsiveness in different forms of nepthrotuberculosis, 237 patients underwent comprehensive clinical laboratory studies. To reveal various combinations of genetic markers, the authors determine the phenotypes of haptoglobin, the activity of red blood cell glucose-6-phosphate dehydrogenase, the type of inactivation of isonicotinic acid hydrazide. According to the combinations of a complex of these genetic markers, the authors identified 4 combinations: poor, good, relatively poor, and relatively good. The studies indicated the high incidence of common forms of nephrotuberculosis in subjects with poor and relatively poor combinations of genetic markers. The determination of various chronic renal failure-associated combinations of genetic markers may be used to identify risk groups for this disease.
Assuntos
Tuberculose Renal/genética , Tuberculose Renal/fisiopatologia , Adolescente , Adulto , Idoso , Progressão da Doença , Marcadores Genéticos , Humanos , Pessoa de Meia-Idade , Índice de Gravidade de DoençaRESUMO
The association of nephronophthisis and tapeto-retional degeneration was described by both Senior and Loken in 1961, but prior to 1974 only 28 cases had been published. This report describes 8 new cases in 27 members of 5 families. The severe juvenile type produces blindness in infancy and death from renal failure before the age of ten. The adult type is characterized by later onset, slower progression of the renal disease and milder ocular manifestations. The eye disease may be congenital amaurosis of Leber type, pigmentary retinal degeneration or retinitis punctata albescens and the electroretinogram (ERG) is of value in the diagnosis of these varieties of hereditary tapeto-retinal degeneration. Renal involvement is often asymptomatic. Defective urinary concentration leading to polyuria and polydipsia is the earliest sign. Proteinuria is inconstant and urinary sediment is often normal. Two patients had aminoaciduria. The disease progresses inexorably to chronic renal failure. One patient has been successfully transplanted and two others are on chronic hemodialysis. Renal histological changes are those of nephronophthisis with tubulointerstitial lesions and multiple cysts. Senior-Loken syndrome appears to be transmitted by a single autosomal recessive pleotropic gene of variable expression. Degeneration of neuroepithelium and renal tubular epithelium, both tissues of ectodermal origin, may represent a genetically determined enzyme abnormality.
Assuntos
Degeneração Retiniana/genética , Tuberculose Renal/genética , Adolescente , Cegueira/complicações , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Rim/patologia , Masculino , Linhagem , Degeneração Retiniana/etiologia , Degeneração Retiniana/patologia , Síndrome , Tuberculose Renal/complicações , Tuberculose Renal/etiologiaAssuntos
Genes Recessivos , Medula Renal , Rim , Degeneração Retiniana/etiologia , Tuberculose Renal/genética , Adolescente , Consanguinidade , Eletroculografia , Eletrorretinografia , Homozigoto , Humanos , Masculino , Linhagem , Epitélio Pigmentado Ocular/patologia , Degeneração Retiniana/patologia , Síndrome , Tuberculose Renal/complicaçõesAssuntos
Autoanticorpos/imunologia , Teste de Histocompatibilidade , Transplante de Rim , Adulto , Linfócitos B/imunologia , Criança , Reações Falso-Positivas , Feminino , Antígenos HLA/imunologia , Humanos , Falência Renal Crônica/imunologia , Masculino , Linfócitos T/imunologia , Tuberculose Renal/genética , Tuberculose Renal/imunologiaAssuntos
Doenças Renais Císticas/classificação , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Falência Renal Crônica/etiologia , Masculino , Doenças Renais Policísticas/genética , Doenças Renais Policísticas/patologia , Tuberculose Renal/diagnóstico , Tuberculose Renal/genéticaAssuntos
Transplante de Rim , Doadores de Tecidos , Tuberculose Renal/cirurgia , Família , Feminino , Humanos , Masculino , Tuberculose Renal/genéticaAssuntos
Oftalmopatias/genética , Tuberculose Renal/genética , Adulto , Fatores Etários , Humanos , Masculino , Néfrons , SíndromeRESUMO
Clinical, X-ray, ultrasound, and laboratory studies were made in 152 patients with nephrotic tuberculosis. Haptoglobin phenotypes were defined in the examinees. Nephorotic tuberculosis was found to occur in patients with haptoglobin 2-2 most commonly. There was a relationship between the carriage of a genetically determined haptoglobin phenotype and a difference in the clinical manifestations of hephrotic tuberculosis. The patients with haptoglobin 2-2 were seen to have more severe hephrotic tuberculosis.
Assuntos
Haptoglobinas/genética , Tuberculose Renal/genética , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Tuberculose Renal/diagnósticoRESUMO
Electroretinographic and electroencephalographic studies were conducted in a 12-year-old boy with nephronophthisis, chronic hepatic fibrosis, mental retardation and tapetoretinal degeneration (Senior-Boichis syndrome). Markedly reduced ERG amplitudes and flat oscillatory potentials were found in the proband. Delayed scotopic implicit time and reduced amplitudes of the beta-wave were found in the mother's ERG. ERG may identify the carrier state of the Senior-Boichio syndrome.