{"id":26289,"date":"2024-05-13T11:07:49","date_gmt":"2024-05-13T14:07:49","guid":{"rendered":"https:\/\/www.grupomedcof.com.br\/blog\/?p=26289"},"modified":"2026-04-24T17:37:41","modified_gmt":"2026-04-24T20:37:41","slug":"sindrome-de-alport-desvendando-os-sintomas-e-diagnostico","status":"publish","type":"post","link":"https:\/\/www.grupomedcof.com.br\/blog\/sindrome-de-alport-desvendando-os-sintomas-e-diagnostico\/","title":{"rendered":"S\u00edndrome de Alport: Desvendando os Sintomas e Diagn\u00f3stico"},"content":{"rendered":"\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/05\/Blog-MedCof-2024-05-13T104450.766-1024x576.png\" alt=\"\" class=\"wp-image-26290\" srcset=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/05\/Blog-MedCof-2024-05-13T104450.766-1024x576.png 1024w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/05\/Blog-MedCof-2024-05-13T104450.766-300x169.png 300w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/05\/Blog-MedCof-2024-05-13T104450.766-768x432.png 768w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/05\/Blog-MedCof-2024-05-13T104450.766-1536x864.png 1536w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/05\/Blog-MedCof-2024-05-13T104450.766-747x420.png 747w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/05\/Blog-MedCof-2024-05-13T104450.766-150x84.png 150w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/05\/Blog-MedCof-2024-05-13T104450.766-696x392.png 696w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/05\/Blog-MedCof-2024-05-13T104450.766-1068x601.png 1068w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/05\/Blog-MedCof-2024-05-13T104450.766.png 1920w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\">A S\u00edndrome de Alport \u00e9 uma condi\u00e7\u00e3o heredit\u00e1ria rara, marcada por hemat\u00faria glomerular, surdez neurossensorial e altera\u00e7\u00f5es oculares<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">A S\u00edndrome de Alport \u00e9 uma condi\u00e7\u00e3o heredit\u00e1ria rara, marcada por hemat\u00faria glomerular, surdez neurossensorial e altera\u00e7\u00f5es oculares. Este guia abrangente oferece insights sobre a s\u00edndrome, desde sua transmiss\u00e3o gen\u00e9tica at\u00e9 os procedimentos de diagn\u00f3stico e poss\u00edveis tratamentos.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-caracteristicas-da-sindrome-de-alport\"><strong>Caracter\u00edsticas da S\u00edndrome de Alport<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">A s\u00edndrome pode ser transmitida pelo cromossomo X, predominantemente afetando homens, ou por padr\u00f5es autoss\u00f4micos dominantes ou recessivos. Causada por muta\u00e7\u00f5es que impactam a produ\u00e7\u00e3o de col\u00e1geno tipo IV, essencial para as membranas basais do glom\u00e9rulo, c\u00f3clea, saco capsular e retina, a s\u00edndrome atinge aproximadamente 1 em 5.000 pessoas.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-quadro-clinico-abrangente\"><strong>Quadro Cl\u00ednico Abrangente<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-achados-sistemicos\"><strong>Achados Sist\u00eamicos:<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Insufici\u00eancia Renal:<\/strong> Geralmente, inicia-se com hemat\u00faria na inf\u00e2ncia.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">&#x1f4a1; Lembre-se : A S\u00edndrome de Alport \u00e9 um importante diagn\u00f3stico diferencial para Nefropatia por IgA.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Surdez Neurossensorial:<\/strong> Mais prevalente em homens, podendo ser n\u00e3o progressiva em mulheres.<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-achados-oculares\"><strong>Achados Oculares:<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Lenticone Anterior:<\/strong> Ectasia anterior do cristalino, afetando at\u00e9 25% dos pacientes.<\/li>\n\n\n\n<li><strong>Catarata:<\/strong> Presente em alguns casos.<\/li>\n\n\n\n<li><strong>Retinopatia em Ponto e Mancha:<\/strong> Comum em 85% dos homens, n\u00e3o afetando significativamente a vis\u00e3o.<\/li>\n\n\n\n<li><strong>Dist\u00farbios Oculares Raros:<\/strong> Incluem distrofia polimorfa posterior.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-diagnostico\"><strong>Diagn\u00f3stico<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">O diagn\u00f3stico envolve:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Bi\u00f3psia Renal:<\/strong> Revela desorganiza\u00e7\u00e3o da l\u00e2mina densa e irregularidades na membrana basal glomerular.<\/li>\n\n\n\n<li><strong>Testes Gen\u00e9ticos:<\/strong> Essenciais para confirmar a presen\u00e7a de muta\u00e7\u00f5es.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Obs: A maioria dos pacientes com lenticone anterior tem associa\u00e7\u00e3o \u00e0 s\u00edndrome de Alport;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">&#x1f4dd; <strong>Como \u00e9 cobrado na prova de Resid\u00eancia?<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">USPRP-SP 2024 R3 CL\u00cdNICA M\u00c9DICA Homem, 18 anos, encaminhado por altera\u00e7\u00e3o em exames de rotina. Traz como \u00fanica queixa, redu\u00e7\u00e3o da acuidade auditiva. Seu av\u00f4 paterno foi submetido a transplante renal e tem um tio em terapia dial\u00edtica. Exames laboratoriais: Cr: 1,2 mg\/dL; Ur: 45 mg\/dL; Dosagem de complemento C3: 1,2 g\/L (VR: 0,82-1,6); C4: 0,15 g\/L (VR: 0,12-0,36); Urina rotina: densidade 1.018; prote\u00ednas: 1+; hem\u00e1cias: 80 por campo e com presen\u00e7a de acant\u00f3citos em 20%. Qual \u00e9 o diagn\u00f3stico mais prov\u00e1vel?<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A. S\u00edndrome de Alport.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">B. Nefrite L\u00fapica.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">C. S\u00edndrome de Liddle.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">D. Raquitismo autoss\u00f4mico.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Gabarito: Letra A<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-o-metodo-que-te-aprova\">O m\u00e9todo que te aprova<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">&nbsp;Se voc\u00ea quer garantir a sua aprova\u00e7\u00e3o nas provas de resid\u00eancia, ent\u00e3o conhe\u00e7a o grupo MedCof e a metodologia que j\u00e1 aprovou<a href=\"https:\/\/www.grupomedcof.com.br\/blog\/presenca-da-medcof-nas-aprovacoes-em-residencia-medica-no-brasil\/\"> mais de 10 mil<\/a> residentes pelo pa\u00eds. Confira abaixo o epis\u00f3dio do nosso podcast <a href=\"https:\/\/www.youtube.com\/watch?v=GbYHUWw3ta8\">papo de aprovado<\/a> em que nossos coordenadores conversam com quem pode comprovar na pr\u00e1tica a recompensa de confiar em nosso m\u00e9todo:<\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<div class=\"youtube-embed\" data-video_id=\"GbYHUWw3ta8\"><iframe loading=\"lazy\" title=\"Papo de Aprovado #9 - Psiquiatria UNICAMP, USP-SP, HIAE e USP-RP Mariana Pereira Graner\" width=\"696\" height=\"392\" src=\"https:\/\/www.youtube.com\/embed\/GbYHUWw3ta8?feature=oembed&#038;enablejsapi=1\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe><\/div>\n<\/div><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>A S\u00edndrome de Alport \u00e9 uma condi\u00e7\u00e3o heredit\u00e1ria rara, marcada por hemat\u00faria glomerular, surdez neurossensorial e altera\u00e7\u00f5es oculares<\/p>\n","protected":false},"author":10,"featured_media":26290,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[115,1071],"tags":[1416,1418,1417],"ppma_author":[3613],"class_list":["post-26289","post","type-post","status-publish","format-standard","has-post-thumbnail","category-clinica-medica","category-nefrologia","tag-nefrologia","tag-sindrome","tag-surdez"],"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>S\u00edndrome de Alport: Sintomas e Diagn\u00f3stico | Medcof<\/title>\n<meta name=\"description\" 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