Until relatively recently, most doctors thought Alport syndrome was an untreatable disease. However, experiments carried out in mice with Alport syndrome demonstrate that several different kinds of medication could slow down loss of kidney function. Preliminary studies in people with Alport syndrome have also provided evidence that early treatment delays kidney fibrosis. This means that diagnosing Alport syndrome as early in life as possible in order to get patients on medication is important.
At this time, there is no FDA approved treatment for Alport syndrome and gene therapy and/or gene editing is not available. The current goal of all treatment is to help slow progression of Alport syndrome so that patients keep their “native” kidneys as long as possible.
Blood-pressure lowering medicines are often prescribed for this reason, even if patients don’t have high blood pressure. ACE and ARB medications; Lisinopril, Ramipril and Losartan – are proven to slow the spill of protein into the urine, slowing the scarring of the kidneys. Current research is in process to more fully understand the disease, identify more treatment options, and a potential cure. Several human clinical trials are in progress as well..
Importance of Diagnosis and Treatment (All Ages)
In August 2022, ASF released a Family Planning Guide to help patients learn more about Alport syndrome inheritance patterns, the importance of genetic testing, and more.
Medication Information (All Ages)
Click here to learn about medications used to treat Alport syndrome.
The Alport syndrome Research Collaborative, an international group of medical professionals who treat Alport patients, developed clinical practice recommendations aimed at standardizing care for children with Alport syndrome in 2012. A PDF version of the recommendations can be accessed here.
In November 2020, the 2012 Alport syndrome Research Collaborative recommendations were updated by Drs. Clifford Kashtan and Oliver Gross and published in Pediatric Nephrology (please note this is a subscription-locked article).
In February 2021, Dr. Clifford Kashtan graciously prepared a layman’s summary of the November 2020 updated pediatric treatment recommendations. Click here to read Dr. Kashtan’s summary. PDF de las pautas de tratamiento pediátrico actualizadas del Dr. Kashtan.
On February 24, 2021 ASF hosted a live Q&A with pediatric nephrologist Dr. Bradley Warady to discuss care for Alport youth. Click here to view a closed-captioned recording of the event.
In Q1 2022, ASF created new educational resources to help parents and families better understand important elements of managing care for children with Alport syndrome. We once again turned to the expertise of renowned pediatric nephrologist and ASF Medical Advisory Committee member, Dr. Bradley Warady, to help create these practical tools:
1) “Pediatric Alport Patient Care: What You Need to Know Right Now” Click here to watch this new 25-minute video on our YouTube Channel. Dr. Warady discusses diagnosis, ongoing care, lab values to pay attention to, explaining Alport syndrome to a child, and more.
2) “First Pediatric Nephrology Appointment: A Guide for Parents” As a complement to the video, ASF prepared a document outlining Alport vocabulary to learn, lab values to understand/track, suggested questions to ask the nephrologist, and more. Click here to view this patient-friendly resource.
3) “Tips for Maximizing Pediatric Nephrology Appointments” These tips were prepared with input from parents of pediatric patients as a quick reference guide to ensure each visit with your child/children’s nephrologist is as productive as possible. Click here to view this tips sheet.
Additionally, in April 2022, ASF created a new page on our website dedicated to Resources for Parents and Caregivers of Pediatric Patients.
It is very important for people with Alport syndrome to be examined regularly by a nephrologist so that effects of kidney disease, such as hypertension (high blood pressure), can be identified early and treated. Regular evaluations of hearing and vision are also important.