Alport Syndrome Alport Syndrome is a genetic condition that causes progressive kidney disease, potential hearing loss, and problems with vision. There are three types: X linked Alport Syndrome (XLAS), autosomal recessive Alport Syndrome (ARAS), and autosomal dominant form (ADAS). The first step in understanding this diagnosis is learning all you can about it. The more you know, the more options you have to live a healthy and productive live. We will walk you through this, explaining exactly what Alport Syndrome is, what a person with this diagnosis can expect, and what first steps you should begin taking. There is good news. There are now treatment plans with can reduce the effects of this disease while providing greater overall health. We’ll cover these as well, including what you can do right now to begin helping yourself or your loved one. As you learn more about this disease, and what treatments are available, the less overwhelmed you will feel. Please keep reading, you will find important information that will help you cope with this diagnosis, along with useful resources that can assist you in this difficult journey. What is Alport Sydrome? Alport Syndrome is a genetically inherited disease of the kidneys (passed down through the family). It is caused by genetic mutations of the collagen IV family of proteins. These proteins are a major part of tissue structures called basement membranes that are present in all tissues including the kidney, inner ear, and eye. Genetic mutations of collagen IV cause thinning and splitting of the glomerular basement membrane. Ultimately, this process causes scarring throughout the kidney, and over time may leads to kidney failure. It may also causes abnormalities in the ears and eyes which can lead to vision and hearing loss. affect the inner ears and eyes. What are the Symptoms of Alport Syndrome? [Below is a list of symptoms associated with Alport Syndrome. Not all will be present, and some symptoms will only show up as the disease progresses. But in all cases, the kidneys will be affected. You should make a list of any symptoms you suspect and provide them to your physician. These, along with the test results, will help to confirm the diagnosis, and provide for a more effective treatment plan.] Symptoms of Alport Syndrome may include: Hematuria (blood in urine) Abnormal urine color Proteinuria (large amounts of protein “spilling” into the urine) Edema (swelling in parts of the body, most noticeable around the eyes, hands and feet, and abdomen) Foamy urine Low blood albumin levels Decreased or loss of vision (more common in males) Flank pain Loss of hearing (more common in males) High cholesterol in some cases High blood pressure in some cases Tendency to form blood clots if spilling large amounts of protein Kidney failure in only some cases as the disease progresses How is Alport Syndrome Diagnosed? A diagnosis of Alport Syndrome is considered in a person with kidney issues (blood and/or protein in urinalysis). Blood in the urine is almost always present in affected individuals. Hearing loss can also be present, so hearing tests can help with the diagnosis. As vision can be effected by this disease, visual screening is a very important tool in diagnosing and managing this disease. A kidney biopsy can also be helpful in diagnosing Alport Syndrome as biopsy slides can show a thinning of the glomerular basement membrane. Kidney biopsies can also show an absence of collagen tissue and can be tested for the presence presence of specific genes (COL4A3, COL4A4, and COL4A5). This information can even sometimes determine the specific genetic form of the disease. Because Alport Syndrome is an inherited disease, genetic testing will confirm the diagnosis, even when there are no other symptoms present. Your healthcare provider will ask you about your family medical history. They may also order the following tests to help make a diagnosis. Urine Test: To determine protein levels and blood in your urine. Blood Tests: To analyze certain chemical factors such as creatinine and cholesterol. Glomerular Filtration Rate: This will determine how well your kidneys are functioning. Kidney Biopsy: To check for specific damage to the kidneys. Hearing Test: To see if any hearing loss has occurred. Vision Test: To see if vision has been affected. Genetic Test: This will confirm the diagnosis even when the other tests are inconclusive, and determine the specific type of Alport Syndrome present Finding the Right Team It is important to find the right medical professionals when seeking treatment for this medical condition. As this is a rare disease, it might be difficult to find doctors experienced with Alport Syndrome. So it is vital to seek out professionals who have extensive experience treated patients with this disease. A team of specialists can provide a comprehensive plan to treat all aspects of this disease, while providing emotional support for the family. How is Alport Syndrome Treated? Treatment will consist of controlling the various symptoms and slowing the progression of kidney disease. It is very important for people with Alport Syndrome to be seen regularly by a nephrologist (physician who specializes in kidney disease) to monitor the effects of the disease. Patients should be on a medication that slows the progression of kidney damage. These medications are called ACE-inhibitors (angiotensin converting enzyme inhibitors) and ARBs (angiotensin II receptor blockers). High blood pressure can be controlled with hypertension medication. These medicines can have the added benefit of slowing the damage occurring within the kidneys. Diuretics can help reduce swelling. Statin drugs will help control high cholesterol. As additional studies are done, new treatments will be made available. Regular vision and hearing evaluation is also important. It is important to have your eyes checked by an ophthalmologist who is aware of your condition. While most eye problems associated with this disease are not serious, regular exams will help maintain eye health and good vision. Alport Syndrome can lead to hearing loss in many patients. Regular checkups with an audiologist is recommended to monitor any hearing problems that might arise. For a person with Alport, it is particularly important to protect against noise exposure, as this will cause additional hearing loss. Males are twice as likely as females to experience hearing loss. Fortunately hearing aids can help with improve hearing. Your nephrologist may also recommend: Diuretics to help eliminate excess fluids in the body Low Sodium diet helps to control edema Anticoagulants to prevent blood clots Blood Pressure medications to lower high blood pressure Statins to lower the cholesterol level Maintaining a healthy diet: Correct amounts of protein and fluid intake according to your nephrologist’s recommendations. A healthy diet consists of low salt with emphasis on fruits and vegetables, low in saturated fat and cholesterol. Exercising Not smoking Vitamins Genetic Counseling How to Help Yourself or a Loved One Fear, anger and frustration are a few of the emotions that you will experience when learning how to live with this disease. It is very important to have a support system in place to help work through these difficult emotions. Sit down with your family and talk about this disease. Let them know what to expect, and how they can help. Let the person with the diagnosis know you are available to talk, reassure them that you are there for them. Family support is important, but it will be critical during these times: During the initial diagnosis Difficulties or changes in treatments Significant declines in health or well being During times of added stress There are support groups that can provide emotional support along with helpful information. The most important thing you can do is provide a caring and supportive environment for the person with this disease. Feeling all alone at times is normal, but knowing there is a support system of caring people willing to listen will go a long way in maintaining emotional health. This disease requires professional treatment. We encourage you to contact us today so we can begin evaluating your specific form of Alport Syndrome, and develop a treatment plan tailored to your specific needs. The Alport Syndrome Research Collaborative developed Clinical Practice Recommendations aimed at standardizing therapy for children with Alport Syndrome. Guidelines for treatment of adult Alport Syndrome patients are also available (1).