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1.
Nucleosides Nucleotides Nucleic Acids ; 25(9-11): 1071-5, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-17065066

RESUMEN

Renal disease is rare today in classic adult gout, and gout is rare in renal disease--especially in the young. Here we summarise studies in 158 patients from 31 kindreds diagnosed with familial juvenile hyperuricaemic nephropathy FJHN from a total of 230 kindred members studied in Great Britain. Some patients have been followed for up to 30 years, and allopurinol has ameliorated the progression of the renal disease in all 113 surviving members provided: They have been diagnosed and treated sufficiently early. Compliance with allopurinol treatment and diet has been as important as early recognition. Hypertension has been rigorously controlled. The use of oral contraceptives has been avoided, as has pregnancy in any female with a Glomelar Filtration Rate GFR <70 ml/min. The question arising is: Why is FJHN the most prevalent genetic purine disorder diagnosed in Britain? Is it a lack of awareness which needs to be improved Europe-wide?


Asunto(s)
Nefritis Hereditaria/epidemiología , Nefritis Hereditaria/genética , Errores Innatos del Metabolismo de la Purina-Pirimidina/epidemiología , Errores Innatos del Metabolismo de la Purina-Pirimidina/genética , Adolescente , Adulto , Alopurinol/uso terapéutico , Niño , Progresión de la Enfermedad , Salud de la Familia , Femenino , Tasa de Filtración Glomerular , Humanos , Enfermedades Renales/diagnóstico , Enfermedades Renales/epidemiología , Masculino , Nefritis Hereditaria/diagnóstico , Linaje , Errores Innatos del Metabolismo de la Purina-Pirimidina/diagnóstico , Factores de Tiempo , Reino Unido
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