Alport syndrome: an update.

PURPOSE OF REVIEW: The recent widespread availability of genetic testing has resulted in the diagnosis of many more people with Alport syndrome. This increased recognition has been paralleled by advances in understanding clinical consequences, genotype-phenotype correlations and in the development of new therapies.

RECENT FINDINGS: These include the international call for a change of name to 'Alport spectrum' which better reflects the diverse clinical features seen with autosomal dominant and X-linked Alport syndrome; the demonstration of how common Alport syndrome is in people with haematuria, proteinuria, or kidney failure; the inability of current genetic testing to detect all pathogenic variants in suspected Alport syndrome; the different genotype-phenotype correlations for autosomal dominant and X-linked disease; and the novel treatments that are available including SGLT2 inhibitors for persistent albuminuria despite renin-angiotensin-aldosterone blockade, as well as early studies of gene-modifying agents.

SUMMARY: Autosomal dominant Alport syndrome is the commonest genetic kidney disease and X-linked Alport syndrome is the second commonest genetic cause of kidney failure. Both these diseases are frequently seen in the renal clinic, and clinicians should be aware of their likelihood in a person with persistent glomerular haematuria, proteinuria or kidney failure. Autosomal dominant Alport syndrome is so common that it also occurs coincidentally in other kidney diseases especially IgA nephropathy.