RESUMEN
INTRODUCTION: Familial forms of small-vessel vasculitis has been reported in 14 families (including this one). CASES: A father and son were both diagnosed with renal vasculitis (pauci-immune crescentic glomerulonephritis). Both had antimyeloperoxidase autoantibodies, and there was no evidence of a common environmental factor. DISCUSSION: These cases suggest the role of constitutional factors in the pathogenesis of antineutrophil cytoplasmic antibody-associated vasculitis.
Asunto(s)
Riñón/irrigación sanguínea , Vasculitis/genética , Anciano , Humanos , Masculino , Persona de Mediana EdadAsunto(s)
Glomerulonefritis Membranoproliferativa/diagnóstico , Lipodistrofia/complicaciones , Adulto , Factores de Edad , Biopsia , Niño , Femenino , Técnica del Anticuerpo Fluorescente , Estudios de Seguimiento , Glomerulonefritis Membranoproliferativa/patología , Humanos , Riñón/patología , Microscopía , Factores de TiempoRESUMEN
An excess of thyrotropin (TSH) with normal levels of tetraiodothyronine (T4) and of 3,5,3'-triiodothyronine (T3) was confirmed in the serum of 78 trisomy 21 children. A severe deficiency of 3,3',5'-triiodo-thyronine (rT3 or reverse T3) was observed and the decrease of the rT3/TSH ratio was highly significant. These new facts suggest that the rT3 deficiency plays a peculiar role in trisomy 21 (maybe through the regulation of one or few steps of monocarbons' metabolism). A systematic control of thyroid function (including the patient's rT3 level) is mandatory for the follow-up of every trisomy 21 patient.