{"id":1738,"date":"2009-12-10T12:42:06","date_gmt":"2009-12-10T17:42:06","guid":{"rendered":"http:\/\/insidesurgery.com\/?p=1738"},"modified":"2009-12-10T15:03:01","modified_gmt":"2009-12-10T20:03:01","slug":"alports-syndrome-hereditary-nephritis","status":"publish","type":"post","link":"https:\/\/insidesurgery.com\/2009\/12\/alports-syndrome-hereditary-nephritis\/","title":{"rendered":"Alport’s Syndrome (Hereditary Nephritis)"},"content":{"rendered":"
Alport’s syndrome is a type of autoimmune\/collagen disease.<\/p>\n
Pathophysiology<\/strong><\/p>\n 1)<\/strong> progressive sclerosis of glomerulus caused by defect in type 4 collagen 2)<\/strong> four forms occur – the most common is the X-linked “classic” form<\/p>\n Signs and Symptoms<\/strong><\/p>\n 1)<\/strong> end stage renal disease by age 40-50 years 2)<\/strong> bilateral anterior conical lens deformation (lenticonus) 3)<\/strong> cataracts 4)<\/strong> corneal abrasions 5)<\/strong> 50% sensorineural hearing loss (initially high-frequency deafness 6)<\/strong> hypertension<\/p>\n Characteristic Test Findings<\/strong><\/p>\n Laboratory<\/em> – 1)<\/strong> hematuria from infancy 2)<\/strong> proteinuria<\/p>\n Histology\/Gross Pathology<\/strong><\/p>\n 1)<\/strong> defective thickened basement membrane structure with layering and splitting 2)<\/strong> hypercellular glomerulus 3)<\/strong> interlacing lamellae in glomerular basement membrane<\/p>\n Associated Conditions<\/strong><\/p>\n 1)<\/strong> renal failure in adolescence 2)<\/strong> greatly increased risk of developing Goodpasture’s syndrome<\/p>\n Biochemistry<\/strong><\/p>\n defect in collagen type IV alpha-5 gene (COL4A5)<\/p>\n Inheritance\/Epidemiology<\/strong><\/p>\n 1)<\/strong> classic X-linked inheritance form affects 1\/10,000 2)<\/strong> female carriers have mild disease and do not develop renal insufficiency<\/p>\n Treatment<\/strong><\/p>\n definitive treatment is renal transplantation (Alport’s can recur in the graft)<\/p>\n Tips for USMLE<\/strong><\/p>\n 1)<\/strong> lenticonus (bilateral anterior conical displacement of the lens) is pathognomonic for Alport’s syndrome 2)<\/strong> if question mentions cataracts, kidney damage, and hearing loss in a young man, or defect in type IV collagen, think Alport’s<\/p>\n","protected":false},"excerpt":{"rendered":" Alport’s syndrome is a type of autoimmune\/collagen disease. Pathophysiology 1) progressive sclerosis of glomerulus caused by defect in type 4 collagen 2) four forms occur – the most common is the X-linked “classic” form Signs and Symptoms 1) end stage renal disease by age 40-50 years 2) bilateral anterior conical lens deformation (lenticonus) 3) cataracts […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[63],"tags":[295,300,298,296,297,299],"yoast_head":"\n