Kidney Disease: Improving Global Outcomes (KDIGO) Glomerulonephritis Work Group. KDIGO Clinical Practice Guideline for Glomerulonephritis. Kidney inter., Suppl. 2012; 2: 139–274.
Bertsias GK, Tektonidou M, Amoura Z, et al; European League Against Rheumatism and European Renal Association-European Dialysis and Transplant Association. Joint European League Against Rheumatism and European Renal Association-European Dialysis and Transplant Association (EULAR/ERA-EDTA) recommendations for the management of adult and paediatric lupus nephritis. Ann Rheum Dis. 2012 Nov;71(11):1771-82. doi: 10.1136/annrheumdis-2012-201940. Epub 2012 Jul 31. PubMed PMID: 22851469; PubMed Central PMCID: PMC3465859.
Alport syndrome (AS) is a hereditary nephropathy caused by abnormal synthesis of type IV collagen alpha chains, which leads to damage of the glomerular basement membrane. AS is mostly commonly X-linked (in ~80% of patients). A fully symptomatic disease occurs in men, while women are carriers or have a milder form of the disease. Other types of AS have autosomal inheritance, occur in both sexes, and have a course similar to X-linked AS.
Microscopic hematuria and proteinuria are observed. End-stage renal disease (see Chronic Kidney Disease) occurs in almost all men and usually develops by their early- to mid-30s. Most patients have high-frequency sensorineural hearing loss. Various ocular lesions, such as anterior lenticonus, can occur.
There is no specific therapy for AS.