Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy

TLDR: The recommendations include the use of genetic testing as the gold standard for the diagnosis of Alport syndrome and the demonstration of its mode of inheritance.

Abstract: Few prospective, randomized controlled clinical trials address the diagnosis and management of patientswith Alportsyndrome or thinbasement membrane nephropathy. Adult and pediatric nephrologists and geneticists from four continents whose clinical practice focuses on these conditions have developed the following guidelines. The 18recommendationsarebased onLevel D (Expert opinion withoutexplicitcritical appraisal,orbasedonphysiology, bench research, or first principles—NationalHealth Service category) or Level III (Opinions of respected authorities, based on clinical experience, descriptive studies, or reports of expert committees—U.S. Preventive Services Task Force) evidence. The recommendations include the use of genetic testing as the gold standard for the diagnosis of Alport syndrome and the demonstrationofitsmodeofinheritance;theneedtoidentifyandfollowallaffectedmembersofa family with X-linked Alport syndrome, including most mothers of affected males; the treatment of males with X-linked Alport syndrome and individuals with autosomal recessive disease with renin-angiotensin system blockade, possibly even before the onset of proteinuria; discouraging the affected mothers of males with X-linked Alport syndrome from renal donation because of their own risk of kidney failure; and considerationofgenetictestingtoexcludeX-linkedAlportsyndromeinsomeindividualswith thin basement membrane nephropathy. The authors recognize that as evidence emerges, including data from patient registries, these guidelines will evolve further.