Bereng replied

107 weeks ago




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084f2db8c6
Ha,,sido,,denominada,,tambin,,porfiria,,sueca,,por,,la,,prevalencia,,en,,ese,,pas,,(1/1000).,,Para,,,,diagnosticar,,,,cada,,,,tipo,,,,de,,,,porfiria,,,,se,,,,han,,,,desarrollado,,,,distintas,,,,tcnicas,,,,de,,,,laboratorio,,,,y,,,,por,,,,lo,,,,general,,,,,se,,,,realizan,,,,en,,,,orina,,,,,sangre,,,,y,,,,heces.,,,,En,,las,,porfirias,,agudas,,,especialmente,,la,,PAI,,,es,,frecuente,,encontrar,,otros,,estados,,carenciales,,que,,deben,,ser,,tratados,,y,,corregidos,,,como,,la,,hipomagnesemia,,y,,la,,hiponatremia.,,La,,,mayora,,,de,,,los,,,portadores,,,son,,,asintomticos.,,,El,,,,riesgo,,,,de,,,,desarrollar,,,,una,,,,hepatopata,,,,es,,,,muy,,,,bajo,,,,(1%),,,,,pero,,,,al,,,,igual,,,,que,,,,en,,,,la,,,,PV,,,,se,,,,debe,,,,vigilar,,,,la,,,,posible,,,,formacin,,,,de,,,,clculos,,,,biliares,,,,favorecidos,,,,por,,,,la,,,,gran,,,,eliminacin,,,,de,,,,porfirinas,,,,por,,,,esta,,,,ruta.,,,,La,,,crisis,,,o,,,ataque,,,se,,,presenta,,,con,,,cierta,,,frecuencia,,,durante,,,el,,,periodo,,,premenstrual.,,,La,,profilaxis,,de,,la,,hepatopata,,se,,basa,,en,,evitar,,el,,acmulo,,heptico,,de,,protoporfirina,,,para,,lo,,que,,se,,ha,,propuesto,,el,,uso,,de,,cidos,,biliares.,,La,,,Iniciativa,,,Europea,,,para,,,la,,,Porfiria,,,(EPI),,,informa,,,en,,,su,,,web,,,sobre,,,hospitales,,,,laboratorios,,,y,,,mdicos,,,expertos,,,en,,,cada,,,pas,,,comunitario.,,,Al,,,,igual,,,,que,,,,en,,,,otras,,,,variedades,,,,de,,,,porfirias,,,,,la,,,,PCT,,,,puede,,,,presentarse,,,,en,,,,forma,,,,homocigota.,,,,

Stokvis,,,,en,,,,1889.[3],,,,[1].,,,,Por,,ello,,,se,,la,,conoce,,tambin,,como,,porfiria,,mutilante.,,La,,,,manifestacin,,,,de,,,,la,,,,enfermedad,,,,puede,,,,tener,,,,caractersticas,,,,similares,,,,a,,,,la,,,,PAI,,,,,si,,,,bien,,,,es,,,,probable,,,,que,,,,las,,,,crisis,,,,sean,,,,menos,,,,graves,,,,y,,,,frecuentes,,,,que,,,,en,,,,sta,,,,o,,,,un,,,,sndrome,,,,drmico,,,,semejante,,,,al,,,,de,,,,la,,,,PCT,,,,(porfiria,,,,cutnea,,,,tarda).,,,,En,,,,general,,,,,la,,,,anemia,,,,en,,,,estas,,,,porfirias,,,,suele,,,,ser,,,,leve,,,,o,,,,moderada.,,,,Los,,ms,,frecuentes,,relacionados,,con,,el,,desencadenamiento,,del,,ataque,,agudo,,son:.,,La,,,concentracin,,,fecal,,,de,,,copro,,,y,,,protoporfirinas,,,suelen,,,ser,,,aproximadamente,,,iguales,,,,a,,,diferencia,,,de,,,lo,,,que,,,sucede,,,en,,,la,,,Coproporfiria,,,hereditaria,,,,en,,,la,,,que,,,se,,,observa,,,una,,,presencia,,,predominante,,,o,,,exclusiva,,,de,,,coproporfirina,,,fecal.,,,La,,,herencia,,,es,,,de,,,carcter,,,autosmico,,,recesivo,,,(la,,,madre,,,y,,,el,,,padre,,,son,,,portadores,,,del,,,gen,,,de,,,la,,,enfermedad,,,,y,,,al,,,unirse,,,los,,,cromosomas,,,de,,,ambos,,,,los,,,descendientes,,,tienen,,,un,,,50%,,,de,,,posibilidades,,,de,,,ser,,,portadores,,,asintomticos,,,,un,,,25%,,,de,,,posibilidades,,,de,,,padecer,,,la,,,enfermedad,,,(al,,,recibir,,,una,,,doble,,,herencia,,,defectuosa),,,y,,,un,,,25%,,,de,,,ser,,,un,,,individuo,,,sano).,,,Coproporfiria,,,,hereditaria,,,,(CPH),,,,y,,,,porfiria,,,,variegata,,,,(PV):,,,,porfirias,,,,mixtas,,,,que,,,,pueden,,,,presentar,,,,sntomas,,,,agudos,,,,o,,,,drmicos.,,,,

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last edited 40 weeks ago by Bereng
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