Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy

J Am Soc Nephrol. 2013 Feb;24(3):364-75. doi: 10.1681/ASN.2012020148. Epub 2013 Jan 24.

Abstract

Few prospective, randomized controlled clinical trials address the diagnosis and management of patients with Alport syndrome or thin basement membrane nephropathy. Adult and pediatric nephrologists and geneticists from four continents whose clinical practice focuses on these conditions have developed the following guidelines. The 18 recommendations are based on Level D (Expert opinion without explicit critical appraisal, or based on physiology, bench research, or first principles-National Health 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 demonstration of its mode of inheritance; the need to identify and follow all affected members of a 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 consideration of genetic testing to exclude X-linked Alport syndrome in some individuals with thin basement membrane nephropathy. The authors recognize that as evidence emerges, including data from patient registries, these guidelines will evolve further.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Expert Testimony
  • Family
  • Female
  • Genes, Recessive
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / therapy
  • Genetic Testing
  • Hematuria / diagnosis
  • Hematuria / genetics
  • Hematuria / therapy*
  • Humans
  • Kidney Transplantation
  • Male
  • Nephritis, Hereditary / diagnosis
  • Nephritis, Hereditary / genetics
  • Nephritis, Hereditary / therapy*
  • Practice Guidelines as Topic

Supplementary concepts

  • Hematuria, Benign Familial