How is Alport syndrome diagnosed?
People who suffer from Alport syndrome may have symptoms for years before being diagnosed: it is often asymptomatic until the very end, and having a family member with Alport syndrome is a key indicator of the need to be screened. Other methods of diagnosis include observation of the aforementioned clinical symptoms (hematuria, hearing loss, eye defects, swelling, proteinuria), lab tests (particularly for glomerular filtration rate, or GFR), genetic testing, skin and renal biopsies, and referral to ophthalmology and ENT (Ears, Nose, Throat) specialists for eye examinations and hearing tests.
Is there a treatment for Alport syndrome?
Alport syndrome cannot be specifically treated, as there are currently no specific and approved therapies for Alport syndrome. However, clinical trials are currently ongoing, so there may be an approved therapy in the near future.
Moreover, since Alport syndrome is linked to CKD, measures can be taken to control CKD. These include ACEi (ACE inhibitors) and ARBs (Angiotensin II receptor blockers), which both help delay the progression of CKD. Just like Alport syndrome, CKD tends to be a silent disease, so early diagnosis is critical.
Excessive or deficient protein intake may put a patient at risk, requiring adequate control. Complications such as anemia, malnutrition, osteodystrophy, and acidosis should be closely monitored, as well as any risk from cardiac disease, vascular disease, and diabetes. Finally, the patient must play an active role in this whole process.
If a patient is in stage 5 CKD (kidney failure), dialysis or kidney transplants become a consideration. However, rarely, Alport Syndrome patients may suffer anti-GBM glomerulonephritis, a rare but dramatic complication that must be discussed with the transplant team.
Additionally, donors must also be screened carefully, particularly heterozygous females: there have been many cases of a carrier mother inadvertently transplanting her affected kidney to her son, which would be detrimental to both of them.
Note that the earlier the treatment, the better the outcomes!