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1.
Presse Med ; 34(12): 861-2, 2005 Jul 02.
Artículo en Francés | MEDLINE | ID: mdl-16097210

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 Edad
5.
Ann Genet ; 31(3): 137-43, 1988.
Artículo en Francés | MEDLINE | ID: mdl-2975939

RESUMEN

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.


Asunto(s)
Síndrome de Down/sangre , Glándula Tiroides/metabolismo , Tirotropina/sangre , Triyodotironina Inversa/sangre , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Modelos Moleculares , Valores de Referencia , Tiroxina/sangre , Triyodotironina Inversa/deficiencia
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