{"id":12736,"date":"2025-07-22T08:25:02","date_gmt":"2025-07-22T12:25:02","guid":{"rendered":"https:\/\/www.rigicon.com\/glossary-term\/amino-aciduria\/"},"modified":"2025-07-22T08:25:02","modified_gmt":"2025-07-22T12:25:02","slug":"aminoaciduria-pt-br","status":"publish","type":"glossary-term","link":"https:\/\/www.rigicon.com\/pt-br\/glossary-term\/aminoaciduria-pt-br\/","title":{"rendered":"Aminoacid\u00faria"},"content":{"rendered":"","protected":false},"excerpt":{"rendered":"","protected":false},"featured_media":0,"template":"","glossary-category":[126],"glossary-product":[108,107],"class_list":["post-12736","glossary-term","type-glossary-term","status-publish","hentry","glossary-category-urological-conditions","glossary-product-conticlassic-aus","glossary-product-contireflex-enhanced-aus"],"acf":{"gt-definition":"<p>Aminoacid\u00faria refere-se \u00e0 presen\u00e7a de amino\u00e1cidos excessivos na urina, muitas vezes indicando um dist\u00farbio metab\u00f3lico.<sup>1<\/sup> Essa condi\u00e7\u00e3o ocorre quando a urina cont\u00e9m quantidades anormalmente altas de amino\u00e1cidos, que s\u00e3o os blocos de constru\u00e7\u00e3o das prote\u00ednas no corpo.<sup>2<\/sup> Em um rim saud\u00e1vel, os glom\u00e9rulos filtram todos os amino\u00e1cidos do sangue e os t\u00fabulos renais reabsorvem mais de 95% dos amino\u00e1cidos filtrados de volta ao sangue.<sup>3<\/sup><\/p>\n\n <p>A aminoacid\u00faria pode ser classificada em dois tipos principais com base no mecanismo subjacente:<\/p>\n\n <p>1. <strong>Aminoacid\u00faria por excesso<\/strong>: Ocorre quando concentra\u00e7\u00f5es anormalmente altas de amino\u00e1cidos no plasma sangu\u00edneo sobrecarregam a capacidade de reabsor\u00e7\u00e3o dos t\u00fabulos renais, resultando em altas concentra\u00e7\u00f5es de amino\u00e1cidos na urina.<sup>4<\/sup> Isso pode ser causado por dist\u00farbios cong\u00eanitos do metabolismo de amino\u00e1cidos, como fenilceton\u00faria, ou pode ser secund\u00e1rio a doen\u00e7a hep\u00e1tica.<sup>3<\/sup><\/p>\n\n <p>2. <strong>Aminoacid\u00faria renal<\/strong>: Ocorre quando os t\u00fabulos renais s\u00e3o incapazes de reabsorver os amino\u00e1cidos filtrados de volta ao sangue, causando altas concentra\u00e7\u00f5es de amino\u00e1cidos na urina.<sup>5<\/sup> Isso pode ser causado por um defeito nas prote\u00ednas de transporte no t\u00fabulo renal, como ocorre na doen\u00e7a de Hartnup, ou pode ser devido a danos ao t\u00fabulo renal, como ocorre em Fanconi s\u00edndrome.<sup>4<\/sup><\/p>\n\n <p>Aminoacid\u00farias heredit\u00e1rias s\u00e3o causadas por transporte defeituoso de amino\u00e1cidos atrav\u00e9s do rim (reabsor\u00e7\u00e3o) e, em muitos casos, tamb\u00e9m do epit\u00e9lio do intestino delgado (absor\u00e7\u00e3o).<sup>6<\/sup> Esses dist\u00farbios podem afetar o metabolismo de amino\u00e1cidos espec\u00edficos ou grupos de amino\u00e1cidos, levando ao seu ac\u00famulo no sangue e subsequente excre\u00e7\u00e3o na urina.<sup>7<\/sup><\/p>\n<p>A aminoacid\u00faria \u00e9 uma condi\u00e7\u00e3o caracterizada pela excre\u00e7\u00e3o excessiva de amino\u00e1cidos na urina. Pode ser classificada como renal (defeito na reabsor\u00e7\u00e3o tubular) ou por transbordamento (n\u00edveis plasm\u00e1ticos elevados). Na urologia, \u00e9 relevante na avalia\u00e7\u00e3o de doen\u00e7as tubulares renais e na forma\u00e7\u00e3o de c\u00e1lculos, especialmente cistina.<\/p>","gt-synonyms":"Amino\u00e1cidos - urina, Amino\u00e1cidos urin\u00e1rios, Hiperaminoacid\u00faria, Aminoacidopatia, Aminoacid\u00faria renal, Aminoacid\u00faria por transbordamento, Aminoacid\u00faria generalizada","gt-citation":"[1] Aliu E, Kanungo S, Arnold GL. Amino acid disorders. Ann Transl Med. 2018 Dec;6(24):471. DOI: 10.21037\/atm.2018.12.12\n\n[2] \"Aminoaciduria\". Mosby's Medical Dictionary (9th ed.). Mosby. 2013. p. 79. ISBN 9780323112581.\n\n[3] Sch\u00fcck, O (1984). \"Amino acids excretion. Physiology and pathophysiology\". Examination of Kidney Function. Translated by Cort, JH. Dordrecht: Springer Netherlands. p. 252. ISBN 9789400956605.\n\n[4] Crook, Martin Andrew (2012). \"Chapter 27: Inborn errors of metabolism\". Clinical biochemistry and metabolic medicine (8th ed.). London: Hodder Arnold. pp. 371\u2013383. ISBN 9781444144154.\n\n[5] Mundt, LA; Shanahan, K (2011). \"Chapter 7: Urinary and metabolic diseases and related urinalysis findings. Aminoacidurias\". Graff's textbook of routine urinalysis and body fluids (2nd ed.). Philadelphia: Wolters Kluwer\/Lippincott Williams & Wilkins Health. pp. 203\u2013210. ISBN 9781582558752.\n\n[6] \"Aminoaciduria\". ScienceDirect Topics. Retrieved from Kidney International, 2015. https:\/\/www.sciencedirect.com\/topics\/medicine-and-dentistry\/aminoaciduria\n\n[7] Ziegler SG, Ferreira CR. Inborn errors of amino acid metabolism. Transl Sci Rare Dis. 2023;6(1-2):37-55. DOI: 10.3233\/TRD-230018","gt-clinical-context":"<p>A aminoacid\u00faria \u00e9 clinicamente significativa, pois muitas vezes serve como um biomarcador para v\u00e1rios dist\u00farbios metab\u00f3licos, particularmente erros inatos do metabolismo de amino\u00e1cidos.<sup>1<\/sup> Na pr\u00e1tica cl\u00ednica, a aminoacid\u00faria \u00e9 detectada atrav\u00e9s da an\u00e1lise de amino\u00e1cidos na urina, que normalmente \u00e9 realizada quando h\u00e1 suspeita de um dist\u00farbio metab\u00f3lico com base na apresenta\u00e7\u00e3o cl\u00ednica ou como parte do acompanhamento da triagem neonatal.<sup>7<\/sup><\/p>\n\n <p>O significado cl\u00ednico da aminoacid\u00faria varia dependendo da causa subjacente:<\/p>\n\n <p>1. <strong>Valor diagn\u00f3stico<\/strong>: Os padr\u00f5es de aminoacid\u00faria podem ajudar a identificar dist\u00farbios metab\u00f3licos espec\u00edficos. Por exemplo, a fenilceton\u00faria (PKU) \u00e9 caracterizada por fenilalanina elevada no sangue e na urina.<sup>1<\/sup> Da mesma forma, a doen\u00e7a da urina do xarope de bordo apresenta n\u00edveis elevados de amino\u00e1cidos de cadeia ramificada.<sup>7<\/sup><\/p>\n\n <p>2. <strong>Crit\u00e9rios de sele\u00e7\u00e3o de pacientes<\/strong>: Os pacientes que podem necessitar de testes de amino\u00e1cidos na urina incluem aqueles com atraso inexplic\u00e1vel no desenvolvimento, sintomas neurol\u00f3gicos, odor incomum, retardo de crescimento ou hist\u00f3rico familiar de dist\u00farbios metab\u00f3licos.<sup>5<\/sup><\/p>\n\n <p>3. <strong>Manejo cl\u00ednico<\/strong>: Para muitos dist\u00farbios de amino\u00e1cidos, a restri\u00e7\u00e3o alimentar do amino\u00e1cido agressor \u00e9 a base do tratamento.<sup>1<\/sup> Essa abordagem levou \u00e0 evolu\u00e7\u00e3o do campo da \"Nutri\u00e7\u00e3o Metab\u00f3lica\".<sup>1<\/sup> Por exemplo, na PKU, dietas com restri\u00e7\u00e3o de fenilalanina t\u00eam tido sucesso na preven\u00e7\u00e3o da defici\u00eancia intelectual quando iniciadas precocemente.<sup>1<\/sup><\/p>\n\n <p>4. <strong>Resultados esperados<\/strong>: O diagn\u00f3stico precoce e o tratamento adequado dos dist\u00farbios de amino\u00e1cidos podem melhorar significativamente os resultados. Sem tratamento, muitos desses dist\u00farbios podem levar \u00e0 defici\u00eancia intelectual, atraso no desenvolvimento, danos neurol\u00f3gicos e, em alguns casos, morte.<sup>1<\/sup> No entanto, com tratamento adequado, muitos pacientes podem levar uma vida relativamente normal.<sup>7<\/sup><\/p>\n\n <p>Na s\u00edndrome de Fanconi, uma caracter\u00edstica fundamental \u00e9 a aminoacid\u00faria generalizada, onde praticamente todos os amino\u00e1cidos s\u00e3o encontrados em excesso na urina.<sup>6<\/sup> No entanto, normalmente n\u00e3o h\u00e1 consequ\u00eancias cl\u00ednicas deste aspecto espec\u00edfico da s\u00edndrome porque as perdas s\u00e3o triviais em rela\u00e7\u00e3o \u00e0 ingest\u00e3o alimentar.<sup>6<\/sup><\/p>\n\n <p>A triagem de beb\u00eas para n\u00edveis aumentados de amino\u00e1cidos pode ajudar a detectar precocemente problemas de metabolismo. O tratamento precoce para essas condi\u00e7\u00f5es pode prevenir complica\u00e7\u00f5es no futuro.<sup>2<\/sup><\/p>\n<p>O diagn\u00f3stico envolve an\u00e1lise quantitativa de amino\u00e1cidos urin\u00e1rios e plasm\u00e1ticos. A cistin\u00faria, forma mais comum clinicamente relevante, predisp\u00f5e \u00e0 forma\u00e7\u00e3o de c\u00e1lculos de cistina, que representam 1-2% de todos os c\u00e1lculos renais. O manejo inclui hidrata\u00e7\u00e3o adequada, alcaliniza\u00e7\u00e3o urin\u00e1ria e, em casos refrat\u00e1rios, uso de tiopronina ou D-penicilamina.<\/p>","gt-related-evidence":null,"gt-featured":true,"gt-ai-referenced":false,"gt-view-count":98},"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.7 (Yoast SEO v27.7) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Aminoacid\u00faria: Causas, Diagn\u00f3stico e Tratamento | Rigicon<\/title>\n<meta name=\"description\" content=\"Saiba sobre aminoacid\u00faria, excre\u00e7\u00e3o anormal de amino\u00e1cidos na urina. 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