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. Scroll below to view Pediatric and Adult care recommendations.
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. Additionally, while they have not been studied specifically in patients with Alport syndrome, SGLT2i medications (such as FARXIGA) are increasingly being used in addition to ACEs/ARBs in adult patients to help reduce the risk of kidney failure.
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.
Adult Treatment Medication Recommendations
To best address questions related to current treatment options, medication side effects, drug interactions, pregnancy and medications, and more, we asked ASF Medical Advisory Committee members Dr. Caitlin Carter and Dr. James Simon, as well as Alport expert Professor Neil Turner from the U.K., to help us prepare a new educational document entitled “Adult Treatment Overview: Medications.” (Descargar: Resumen de tratamiento para medicamentos para adultos) This free, downloadable mini-guide, released in December 2022, answers many frequently asked questions. It offers helpful tips for managing these treatments and lists further questions to discuss with your nephrologist.
Scroll below for Pediatric Care information.
For patients living with a rare disease such as Alport syndrome, learning how to advocate for your own healthcare is important. It also involves listening, asking questions, expressing your thoughts and feelings, finding a doctor who is your partner, and connecting to a support system. Read this article for tips on how to best advocate for yourself.
PUBLISHED PEDIATRIC CARE GUIDELINES
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.
PEDIATRIC CARE GUIDES/VIDEOS
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.
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.