Alport Syndrome
Disclaimer: all information in this blog post was carefully sourced from various credible medical institutions. I do not claim any data stated below as my own and have simply organized the most important information on Alport Syndrome for those in need of it. All medical information below has been cited under the Sourced Information section found at the very end of this post.
Alport Syndrome is a genetic condition often marked by kidney disease, hearing loss, and eye abnormalities. It caused by an abnormality in genes that code for the building blocks of collagen 4. In 80% of cases, Alport syndrome is inherited in an X-linked pattern and caused by COL4A5 gene mutations, although other inheritance patterns exist. It can be inherited as an autosomal recessive or dominant pattern by mutations in COL4A3 or COL4A4 gene.
Lack of Filtration
With all types of Alport syndrome, the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are damaged. The glomeruli filter blood to make urine and remove waste products from the blood.
At first, there are no symptoms. Over time, as the glomeruli are more and more damaged, kidney function is lost and waste products and fluids build up in the body. The condition can progress to end-stage renal disease (ESRD) at an early age, between adolescence and age 40. At this point, dialysis or a kidney transplant is needed.
Types of AS
This disorder is rare. There are four genetic types:
- X-linked Alport syndrome (XLAS) -- This is the most common type. The disease is more severe in males than in females.
- Autosomal recessive Alport syndrome (ARAS) -- Males and females have equally severe disease.
- Autosomal dominant Alport syndrome (ADAS) – This is the rarest type. Males and females have equally severe disease.
- Spontaneous mutation causing Alport Syndrome - occurs randomly from a spontaneous genetic mutation, not inherited from family in people with the spontaneous mutation but may be inherited by offspring of those with the mutation in the form of the other types of Alport Syndrome
Common Symptoms of AS
Hematuria means blood in the urine. There are actually two type of hematuria, gross and microscopic. Gross hematuria occurs when you can visibly see blood in the urine. Microscopic hematuria occurs when you cannot see the blood in your urine, but it can be seen under a microscope or is found using a urine test called a urinalysis. If you have any concern you may have hematuria, you can give your urine sample at the doctor's office, hospital, or specialized testing facility. You'll be given a plastic cup to take to the bathroom. There, you can privately urinate into the cup. You may be asked to obtain a clean catch urine sample. The “clean catch” method is intended to help prevent contamination of your urine sample with cells from your genitals. You or your healthcare provider can also collect a urine sample using a catheter.
Edema is swelling caused by too much fluid trapped in the body's tissues. It can affect any part of the body. But it's more likely to show up in the legs and feet. Most commonly, the legs or arms are affected. Symptoms may include skin that feels tight, areas that may feel heavy, and joint stiffness.
Hypertension (high blood pressure) is when the pressure in your blood vessels is too high (140/90 mmHg or higher). It is common but can be serious if not treated. People with high blood pressure may not feel symptoms. The only way to know is to get your blood pressure checked. Blood pressure can be taken alone or by a medical professional.
Ears
over time, Alport syndrome also leads to hearing loss in both ears. By the early teens, it is common in males with XLAS, though in females, hearing loss is not as common and happens when they're adults. With ARAS, boys and girls have hearing loss during childhood. With ADAS, it occurs later in life. Hearing loss usually occurs before kidney failure.
Eyes
Alport syndrome also leads to eye problems in those with XLAS and ARAS, including:
- Abnormal shape of the lens (anterior lenticonus), which can lead to a slow decline in vision as well as cataracts.
- Corneal erosion in which there is damage to the outer layer of the covering of the eyeball, leading to pain, itching, redness of the eye, or blurred vision.
- Abnormal coloring of the retina, a condition called dot-and-fleck retinopathy. It doesn't cause vision problems, but can help diagnose Alport syndrome.
- Macular hole in which there is thinning or a break in the macula. The macula is a part of the retina that makes central vision sharper and more detailed. A macular hole causes blurred or distorted central vision.
Other symptoms may include but are not limited to
- Abnormal urine color
- Blood in the urine that is visible during a cold or flu or exercise
- Flank pain, a sensation of discomfort, distress, or agony in the part of the body below the rib and above the ilium, generally beginning posteriorly or in the midaxillary line and resulting from the stimulation of specialized nerve endings upon distention of the ureter or renal capsule.
- Fatigue
- Poor appetite
- Excessive thirst
Outlook (Prognosis)
The outlook depends on the type of Alport syndrome, biological sex, and age.
For both males and females, kidney function will worsen over time. In males with XLAS, this may lead to kidney failure at an earlier age. Most men with XLAS will experience kidney failure by age 60. Women with XLAS may or may not have kidney problems, but the risk increases with age.
Both males and females with ARAS will develop kidney failure by early adulthood.
ADAS progresses slowly in both males and females, and kidney failure may not occur until later in life.
As kidneys fail, dialysis or a kidney transplant will be needed. Kidney transplant is often very successful in people with Alport syndrome.
Seeking Treatment
Getting Diagnosed
If you believe you may have AS or are experiencing most of the symptoms described above, professional medical assistance is advised. A health care provider will examine you and ask about your symptoms.
The following tests may be done:
- BUN and serum creatinine, creatinine is a waste product from your muscles that's also filtered by your kidneys. Like BUN, high levels of creatinine could mean there's a lot of waste product that hasn't been removed by the kidneys. The ideal ratio of BUN to creatinine falls between 10-to-1 and 20-to-1.
- Complete blood count test, measures the following: red blood cells, which carry oxygen; white blood cells, which fight infection; hemoglobin, the oxygen-carrying protein in red blood cells; hematocrit, the amount of red blood cells in the blood; platelets, which help blood to clot. A complete blood count can show unusual increases or decreases in cell counts. Those changes might point to a medical condition that calls for more testing.
- Urinalysis (discussed above in hematuria section)
- Renal biopsy, the removal of a small piece of kidney tissue for examination
- Kidney Transplant, performed at end stage of disease when kidney failure is reached
Treatment After Diagnosis
The goals of treatment include monitoring and controlling the disease and treating the symptoms.
Your provider may recommend any of the following:
- A diet that limits salt, fluids, and potassium
- Medicines to control high blood pressure
Kidney disease is managed by:
- Taking medicines to slow kidney damage
- A diet that limits salt, fluids, and protein
Hearing loss can be managed with hearing aids. Eye problems are treated as needed. For example, an abnormal lens due to lenticonus or cataracts can be replaced.
Genetic counseling may be recommended because the disorder is inherited.
Renal Biopsy, What to Expect
Percutaneous biopsy. Percutaneous means through the skin. Most kidney biopsies are done this way. The procedure is usually done in the following way:
- You may receive medicine to make you drowsy.
- You lie on your stomach. If you have a transplanted kidney, you lie on your back.
- The health care provider marks the spot on the skin where the biopsy needle is inserted.
- The skin is cleaned.
- Numbing medicine (anesthetic) is injected under the skin near the kidney area.
- The provider makes a tiny cut in the skin. Ultrasound images are used to find the proper location. Sometimes another imaging method, such as CT, is used.
- The provider inserts a biopsy needle through the skin to the surface of the kidney. You are asked to take and hold a deep breath as the needle goes into the kidney.
- If the provider is not using ultrasound guidance, you may be asked to take several deep breaths. This allows the provider to know the needle is in place.
- The needle may be inserted more than once if more than one tissue sample is needed.
- The needle is removed. Pressure is applied to the biopsy site to stop any bleeding.
- After the procedure, a bandage is applied to the biopsy site.
Open biopsy. In some cases, your provider may recommend a surgical (open) biopsy. This method is used when a larger piece of tissue is needed or a percutaneous needle biopsy cannot be done safely.
- You receive medicine (anesthesia) that allows you to sleep and be pain-free.
- The surgeon makes a small surgical cut (incision).
- The surgeon locates the part of the kidney from which the biopsy tissue needs to be taken. The tissue is removed.
- The incision is closed with stitches (sutures).
After percutaneous or open biopsy, you will likely stay in the hospital for at least 12 hours. You will receive pain medicines and fluids by mouth or through a vein (IV). Your urine will be checked for heavy bleeding. A small amount of bleeding is normal after a biopsy.
Follow instructions about caring for yourself after the biopsy. This may include not lifting anything heavier than 10 pounds (4.5 kilograms) for 2 weeks after the biopsy.
How to Prepare for the Test
Tell your provider:
- About medicines you are taking, including vitamins and supplements, herbal remedies, and over-the-counter medicines
- If you have any allergies
- If you have bleeding problems or if you take blood-thinning medicines such as warfarin (Coumadin), clopidogrel (Plavix), dipyridamole (Persantine), fondaparinux (Arixtra), apixaban (Eliquis), dabigatran (Pradaxa), or aspirin
- If you are or think you might be pregnant
How the Test will Feel
Numbing medicine is used, so the pain during the procedure is often slight. The numbing medicine may burn or sting when first injected.
After the procedure, the area may feel tender or sore for a few days.
You may see bright, red blood in your urine during the first 24 hours after the test. If the bleeding lasts longer, tell your provider.
Kidney Transplant, What to Expect
Please visit the site below if you are receiving a kidney transplant
Seeking a Transplant
What is the process for getting a kidney transplant?
If you want a kidney transplant, the process includes these steps:
- Tell your doctor or nurse you want to have a kidney transplant.
- Your doctor will refer you to a transplant center for tests to see if you’re healthy enough to receive a transplant. Living donors need to be tested to make sure they’re healthy enough to donate a kidney.
- If you don’t have a living donor, you’ll be placed on a waiting list to receive a kidney. You’ll have monthly blood tests while you wait for a kidney.
- You must go to the hospital to have your transplant as soon as you learn a kidney is available. If you have a living donor, you can schedule the transplant in advance.
Considering Donating a Kidney to Those in Need?
If you want to donate to someone you know, such as a family member, friend, or someone in your community, contact the transplant hospital where they’re waiting for a transplant.
Please visit the National Kidney Registry to read about kidney donation stories.
Sourced Information
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