Sindrome De Bartter Tratamiento Pdf Download
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Abuso,,de,,medicacin,,diurtica:,,Antes,,de,,hacer,,el,,diagnstico,,debe,,excluirse,,el,,uso,,de,,diurticos,,como,,causa,,del,,cuadro,,clnicoEn,,,,1996,,,,,Simon,,,,,et,,,,al,,,Vezzoli,,,G,,,,Arcidiacono,,,T,,,,Paloschi,,,V,,,,et,,,alAlgunos,,,,signos/sntomas,,,,especficos,,,,son,,,,la,,,,aparicin,,,,de,,,,hipoacusia,,,,en,,,,el,,,,sndrome,,,,de,,,,Barttertipo,,,,IV,,,,e,,,,hipocalcemia,,,,en,,,,el,,,,sdnrome,,,,de,,,,Bartter,,,,tipo,,,,V.Etiologa,,,,El,,,,sndrome,,,,de,,,,Bartter,,,,es,,,,el,,,,resultado,,,,de,,,,un,,,,trastorno,,,,de,,,,la,,,,reabsorcin,,,,de,,,,sodio,,,,,potasio,,,,y,,,,cloruro,,,,a,,,,nivel,,,,del,,,,asa,,,,de,,,,HenleCannon,,,,et,,,alLa,,,asociacin,,,con,,,hipercalciuria,,,se,,,explica,,,claramente,,,porque,,,alrededor,,,del,,,25%,,,del,,,calcio,,,filtrado,,,es,,,reabsorbido,,,en,,,la,,,rama,,,ascendente,,,gruesa,,,del,,,asa,,,de,,,Henle,,,acoplado,,,a,,,la,,,actividad,,,Na-K-2Cldescribieron,,,,siete,,,,mutaciones,,,,diferentes,,,,en,,,,el,,,,gen,,,,BSND,,,,en,,,,10,,,,familias,,,,diagnosticadas,,,,de,,,,este,,,,cuadro26
Los,,hallazgos,,clnicos,,del,,sndrome,,de,,Bartter,,son,,hipopotasemia,,,alcalosis,,metablica,,y,,presin,,arterial,,normal,,o,,bajaLos,,,autores,,,observaron,,,que,,,la,,,supresin,,,crnica,,,de,,,la,,,actividad,,,de,,,PGE2,,,tras,,,la,,,administracin,,,de,,,indometacina,,,correga,,,la,,,mayora,,,de,,,las,,,anomalas,,,y,,,,por,,,el,,,contrario,,,,se,,,produca,,,una,,,descompensacin,,,inmediata,,,de,,,la,,,enfermedad,,,al,,,retirar,,,dicho,,,frmacoRespecto,,,,a,,,,la,,,,patogenia,,,,de,,,,la,,,,hipocalciuria,,,,,se,,,,han,,,,sugerido,,,,diferentes,,,,teorasLa,,funcin,,normal,,del,,cotransportador,,Na-K-2Cl,,es,,la,,de,,reabsorber,,alrededor,,del,,30%,,del,,ClNa,,filtrado,,,por,,lo,,que,,no,,es,,sorprendente,,que,,un,,alteracin,,en,,su,,funcin,,produzca,,prdida,,salina,,y,,contraccin,,de,,volumen,,sustancialesEn,,la,,variante,,neonatal,,existen,,polihidramnios,,,parto,,prematuro,,,episodios,,de,,deshidratacin,,graves,,,hipercalciuria,,y,,nefrocalcinosis,,de,,inicio,,precoz
Los,,,,pacientes,,,,con,,,,sndrome,,,,de,,,,Bartter,,,,presentan,,,,sntomas,,,,idnticos,,,,a,,,,aquellos,,,,pacientes,,,,que,,,,toman,,,,diurticos,,,,de,,,,asa,,,,,como,,,,la,,,,furosemidaEste,,,,raro,,,,cuadro,,,,cursa,,,,con,,,,hipocalcemia,,,,,dficit,,,,de,,,,secrecin,,,,de,,,,hormona,,,,paratiroidea,,,,,hipopotasemia,,,,,hipomagnesemia,,,,y,,,,nefrocalcinosis33,34Sndrome,,,EASTCARACTERSTICAS,,CLNICAS,,Y,,TEORAS,,FISIOPATOLGICASEn,,,,ese,,,,momento,,,,,al,,,,menos,,,,,se,,,,conoca,,,,el,,,,tratamiento,,,,farmacolgico,,,,,consistente,,,,en,,,,la,,,,administracin,,,,de,,,,inhibidores,,,,de,,,,la,,,,prostaglandn-sintetasa15,,,,,espironolactona,,,,o,,,,triamtereno,,,,,inhibidores,,,,de,,,,la,,,,enzima,,,,de,,,,conversin,,,,de,,,,la,,,,angiotensina,,,,y,,,,suplementos,,,,de,,,,potasioSorprendentemente,,,,eran,,,portadores,,,de,,,mutaciones,,,simultneas,,,heterocigotas,,,en,,,los,,,genes,,,CLCNKB,,,(Bartter,,,3),,,y,,,SLC12A3,,,(Gitelman)46Referencias[editar]Gracias,,,a,,,la,,,biologa,,,molecular,,,se,,,han,,,caracterizado,,,cinco,,,tiposDesde,,,los,,,primeros,,,estudios,,,,se,,,constat,,,la,,,presencia,,,,en,,,estos,,,pacientes,,,,de,,,una,,,eliminacin,,,urinaria,,,incrementada,,,de,,,aldosterona,,,,por,,,lo,,,que,,,se,,,ensay,,,la,,,adrenalectoma,,,,sin,,,resultados,,,positivosLos,,,marcadores,,,diagnsticos,,,incluyen,,,niveles,,,altos,,,de,,,potasio,,,y,,,cloro,,,en,,,orina,,,a,,,pesar,,,de,,,los,,,niveles,,,bajos,,,en,,,suero,,,,renina,,,elevada,,,en,,,sangre,,,,hiperplasia,,,del,,,aparato,,,yuxtaglomerular,,,en,,,la,,,biopsia,,,y,,,exclusin,,,de,,,abuso,,,de,,,diurticos
Tambin,,,,puede,,,,ser,,,,necesario,,,,el,,,,uso,,,,de,,,,suplementos,,,,de,,,,potasio,,,,,o,,,,el,,,,uso,,,,de,,,,espironolactona,,,,para,,,,disminuir,,,,su,,,,prdida,,,,urinaria.[5]Los,,estudios,,de,,biologa,,molecular,,,realizados,,a,,partir,,de,,1996,,,permitieron,,conocer,,que,,el,,sndrome,,de,,Bartter,,es,,un,,trastorno,,heterogneo,,que,,se,,produce,,por,,un,,defecto,,combinado,,en,,la,,reabsorcin,,tubular,,de,,sodio,,,potasio,,y,,cloroSi,,es,,prolongada,,e,,importante,,,se,,pueden,,formar,,quistes,,renales5ORPHA:112,,Sinnimos:,,Alcalosis,,tubular,,renal,,normotensa,,hipocalimica,,con,,hipercalciuria,,Trastorno,,tubular,,de,,prdida,,de,,sal,,tipo,,asa,,de,,Henle,,Tubulopata,,perdedora,,de,,sal,,tipo,,asa,,de,,Henle,,Prevalencia:,,Desconocido,,Herencia:,,Autosmico,,dominateoAutosmico,,recesivooRecesivo,,ligado,,al,,X,,Edad,,de,,inicio,,o,,aparicin:,,Prenatal,,,Neonatal,,,Infancia,,,Adolescencia,,,La,,edad,,adulta,,CIE-10:,,E26.8,,OMIM:,,241200,,300971,,601198,,601678,,602522,,607364,,613090,,UMLS:,,C0004775,,MeSH:,,D001477,,GARD:,,5893,,MedDRA:,,10050839,,2Figura,,3En,,,,1976,,,,,al,,,,observarse,,,,que,,,,el,,,,tratamiento,,,,con,,,,indometacina,,,,reverta,,,,la,,,,hipopotasemia,,,,,los,,,,altos,,,,niveles,,,,de,,,,renina,,,,y,,,,aldosterona,,,,y,,,,la,,,,sensibilidad,,,,a,,,,la,,,,infusin,,,,de,,,,angiotensina,,,,,se,,,,formul,,,,la,,,,hiptesis,,,,de,,,,que,,,,el,,,,defecto,,,,primario,,,,en,,,,la,,,,enfermedadera,,,,una,,,,hiperplasia,,,,de,,,,las,,,,clulas,,,,intersticiales,,,,renomedulares,,,,que,,,,deban,,,,producan,,,,cantidades,,,,elevadas,,,,de,,,,prostaglandinas15La,,,,hipopotasemiase,,,,trata,,,,con,,,,el,,,,uso,,,,simultneo,,,,de,,,,ClK,,,,y,,,,amiloridaEstos,,,,autores,,,,publicaron,,,,los,,,,datos,,,,clnicos,,,,de,,,,3,,,,pacientes,,,,adultos,,,,,dos,,,,de,,,,ellos,,,,hermanos,,,,,afectados,,,,de,,,,hipopotasemia,,,,,hipomagnesemia,,,,y,,,,alcalosis,,,,metablica ae94280627
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