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Alport syndrome is a rare inherited disorder that damages the tiny blood vessels in the kidneys. The illness is characterized by kidney malfunction, hearing loss, and eye abnormalities. Ultimately, the condition leads to end-stage renal disease. While there is no cure for Alport syndrome, its symptoms can be managed. Furthermore, an option exists that can halt its progress. But what exactly does this opportunity entail, and just how serious is this little-known affliction?
Click through and find out more about Alport syndrome.
Alport syndrome is an inherited disorder that damages the tiny blood vessels in the kidneys. It is named after Arthur Cecil Alport, the South African physician who first identified the condition while practicing in London.
According to the National Library of Medicine (NLM), Alport syndrome affects about one in 50,000 newborns in the United States, and males are more likely to be symptomatic than females. The NLM also estimates that approximately 30,000 to 60,000 people in the country have the disorder.
The disorder can lead to kidney disease and kidney failure.
Hearing loss and problems with the eyes are also indicative of Alport syndrome.
Alport syndrome is an inherited disease. In other words, it's a genetic disorder passed down through families.
The condition develops by defects, or mutations, in your genes to a protein called collagen. Collagen is important to the normal structure and function of the kidneys. The protein also helps maintain healthy tissue in the eyes and ears.
There are three genetic types of Alport syndrome: X-linked Alport syndrome (XLAS); autosomal recessive Alport syndrome (ARAS); and autosomal dominant Alport syndrome (ADAS).
X-linked Alport syndrome (XLAS) is the most common form of Alport syndrome. Affected males typically have more severe disease than affected females. In fact, without treatment 90% of males develop kidney failure by 40 years old. Females develop kidney failure less frequently and more slowly.
In autosomal recessive Alport syndrome (ARAS), the severity of disease in affected males and females is similar. ARAS develops when both parents carry the abnormal gene and both parents pass the abnormal gene to the child.
Similarly, autosomal dominant Alport syndrome (ADAS) affects males and females with equal severity. ADAS develops when one parent has the disease and passes the abnormal gene to the child.
Blood in the urine (hematuria) is the most common and earliest sign of Alport syndrome.
With time, many affected individuals exhibit elevated levels of albumin and other proteins in the urine (albuminuria and proteinuria).
High blood pressure (hypertension) is another sign of Alport syndrome.
Symptoms of this disease may start to appear at a variety of ages, and may differ based on age, gender, and inherited type of Alport syndrome.
Swelling, or edema, in the legs, ankles, and feet is indicative of the condition.
As the disease progresses, eye abnormalities become apparent. These include certain lens abnormalities (also known as anterior lenticonus), which can lead to worsening eyesight and possibly cataracts.
Hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve is a later stage symptom of Alport syndrome.
Any or all of these symptoms should be taken seriously. If your doctor suspects Alport syndrome, further examination by a healthcare professional will be required. A diagnosis is obtained through various procedures, including blood and urine tests and kidney biopsy. A genetic test can help confirm the diagnosis and determine the type of Alport syndrome you may have.
Speedy and accurate diagnosis is crucial for early intervention because the next stage in Alport syndrome is gradual loss of kidney function.
Currently, there is no specific treatment for Alport syndrome, and there is no cure. Instead, the aim is to treat symptoms and help slow the progression of kidney disease. Options include prescribed ACE inhibitor or ARB medicines to regulate high blood pressure.
End-stage renal disease (ESRD) is the inevitable consequence of Alport syndrome. According to the NLM, Alport syndrome accounts for approximately 2.2% of children and 0.2% of adults with ESRD in the United States. In Europe, the disease accounts for 0.6% of patients with ESRD.
The ultimate goal of treating Alport syndrome is to help slow progression of the disease so that patients keep their "native" kidneys as long as possible.
In the X-linked disease form, about 50% of males require dialysis or kidney transplantation by age 30. Approximately 90% of patients develop ESRD before 40. Female patients have a better prognosis, with about 12% developing ESRD by age 40.
In comparison, the autosomal recessive form of Alport syndrome can cause kidney failure by age 20.
By contrast, the onset of ESRD is typically delayed until middle age in those stricken with the autosomal dominant form of the disease.
The good news is that patients with Alport syndrome are excellent candidates for kidney transplantation.
Furthermore, patient and graft survival rates are equal to or better than those for patients with other causes of ESRD.
In fact, preemptive kidney transplantation is the treatment of choice for ESRD resulting from Alport syndrome.
See also: Are you taking care of your kidneys?
The condition causes damage to the kidneys by attacking glomeruli, tiny clusters of looping blood vessels that serve as filtering units.