{"id":848,"date":"2023-02-11T14:56:25","date_gmt":"2023-02-11T19:56:25","guid":{"rendered":"https:\/\/www.geneticalatam.org\/?p=848"},"modified":"2023-02-11T15:12:27","modified_gmt":"2023-02-11T20:12:27","slug":"alport-syndrome-role-of-semiology-and-genetics","status":"publish","type":"post","link":"https:\/\/www.geneticalatam.org\/index.php\/2023\/02\/11\/alport-syndrome-role-of-semiology-and-genetics\/","title":{"rendered":"Alport Syndrome: Role of Semiology and Genetics"},"content":{"rendered":"\n<p>Alport syndrome is a progressive renal disease due to alteration of the glomerular basement membrane secondary to mutation in the COL4A4, COL4A5 and COL4A6 genes of type IV collagen, with 3 inheritance patterns: X-linked, autosomal dominant and autosomal recessive. There is no specific treatment for Alport syndrome; the aim of treatment is to avoid rapid progression to chronic kidney disease and to improve the patient&#8217;s quality of life. We report the case of a 5-year-old female who came to the emergency room with a history of abdominal pain and edema in the lower limbs with microscopic hematuria, and the rest of the laboratory and laboratory tests showed findings suggestive of acute appendicitis. A diagnosis of acute appendicitis and nephritic syndrome was made, however, due to persistent hematuria with proteinuria and family history of hematuria, Alport syndrome was suspected.<\/p>\n\n\n\n<p>See full article: <a href=\"https:\/\/www.pediatricadepanama.org\/index.php\/rspp\/article\/view\/1930\">https:\/\/www.pediatricadepanama.org\/index.php\/rspp\/article\/view\/1930<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Alport syndrome is a progressive renal disease due to alteration of the glomerular basement membrane secondary to mutation in the COL4A4, COL4A5 and COL4A6 genes of type IV collagen, with&hellip; <\/p>\n","protected":false},"author":1,"featured_media":104,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"post_folder":[],"class_list":["post-848","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categoria"],"_links":{"self":[{"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts\/848","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/comments?post=848"}],"version-history":[{"count":1,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts\/848\/revisions"}],"predecessor-version":[{"id":849,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts\/848\/revisions\/849"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/media\/104"}],"wp:attachment":[{"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/media?parent=848"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/categories?post=848"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/tags?post=848"},{"taxonomy":"post_folder","embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/post_folder?post=848"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}