What treatments are available for Alport syndrome?

[Anonymous]

What treatments are available for Alport syndrome?

[Genetic Counselor]

There is currently no cure for Alport syndrome, since the underlying gene change cannot be corrected, but treatment that starts early has been shown to meaningfully delay kidney failure, which is why timing matters as much as the treatment itself.

• Medications that block a hormone system called the renin-angiotensin system, most often angiotensin-converting enzyme inhibitors or angiotensin receptor blockers, are the cornerstone of treatment. Current guidance recommends starting these medications as soon as persistent microscopic blood in the urine is confirmed, generally from around two years of age, in sons and daughters with autosomal recessive Alport syndrome and in males with X-linked Alport syndrome, since these groups have a well-established risk of progressing to kidney failure. For daughters and other individuals who carry a single altered copy of the gene and have no protein in the urine, most specialists recommend watching closely rather than starting medication immediately, then beginning treatment promptly once protein appears in the urine.
• Medications from a newer class called SGLT2 inhibitors are increasingly added for adults who already have both protein in the urine and reduced kidney function, used together with, not instead of, the medications above.
• Blood pressure control is monitored closely at every visit, since elevated blood pressure accelerates kidney scarring in Alport syndrome just as it does in other kidney conditions.
• Hearing aids or cochlear implants address hearing loss once it develops; regular hearing evaluation allows these to be introduced at the right time.
• Surgery to remove the lens may be recommended if anterior lenticonus significantly blurs vision, and modern lens replacement techniques generally give good results.
• Dialysis and kidney transplantation become necessary if kidney failure develops despite treatment. Transplantation generally works very well in Alport syndrome, though a small number of recipients, mainly males with X-linked Alport syndrome who had no working collagen network of their own, develop a rare complication in the new kidney called anti-glomerular basement membrane nephritis, in which the immune system reacts against the new, unfamiliar collagen network. Because of this, transplant recipients are monitored closely for this specific antibody, particularly during the first year after transplant.
Care is generally best coordinated by a kidney specialist working alongside a clinical geneticist, an audiologist for hearing, and an eye specialist, so that all three organ systems are followed together rather than separately.

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