What does it mean to be a carrier of Alport syndrome?
One source explains that “carriers often do not show any signs of the trait but can pass it on to their offspring.” When applied to females with Alport syndrome, the term “carrier” is used to imply that these women have no risk of developing renal disease or experiencing end-stage renal failure.
How is Alport syndrome passed down?
In approximately 15 percent of cases, Alport syndrome results from mutations in both copies of the COL4A3 or COL4A4 gene and is inherited in an autosomal recessive pattern . The parents of an individual with the autosomal recessive form of this condition each have one copy of the mutated gene and are called carriers.
Is Alport syndrome dominant or recessive?
This disease is inherited in the following pattern(s): Autosomal dominant inheritance. X-linked inheritance. X-linked dominant inheritance.
Can females get Alport syndrome?
Many renal physicians think of Alport syndrome as primarily affecting men. However, twice as many women are affected by the X-linked diseases. Affected women are commonly undiagnosed, but 15%–30% develop renal failure by 60 years and often hearing loss by middle age. Half of their sons and daughters are also affected.
Who is most likely to get Alport syndrome?
In general, this means that Alport syndrome is more common and more severe in men than in women, because men have only one X chromosome and it carries the mutation.
What is the life expectancy of someone with Alport syndrome?
Most men with Alport syndrome reach end-stage kidney disease and kidney failure by their 40s or 50s, which can reduce lifespan if not managed with dialysis or a kidney transplant. Most women with Alport syndrome have a normal lifespan.
What age does Alport syndrome present?
For patients with autosomal Alport syndrome (either dominant or recessive), disease symptoms are equally severe in both sexes, with early symptoms typically beginning between ages 3 and 4, and kidney disease progressing to kidney failure at about age 40.
Is there a genetic test for Alport syndrome?
In most cases, genetic testing can confirm a diagnosis of Alport syndrome. Genetic testing is the only way to diagnose a female with no symptoms yet a family history of X-Linked Alport syndrome. It may also be useful when results of a skin, saliva or kidney biopsy are not conclusive.
Does a kidney transplant cure Alport syndrome?
A kidney transplant is not a cure for Alport syndrome, and other symptoms of the disease, such as problems with hearing and eyesight, will not improve following a transplant.
How long do Alport syndrome patients live?
Is Alport syndrome a terminal?
Will a kidney transplant cure Alport syndrome?
How do I know if I have Alport syndrome?
Blood in the urine (hematuria), the most common and earliest sign of Alport syndrome. Protein in the urine (proteinuria) High blood pressure (hypertension) Swelling in the legs, ankle, feet, and around the eyes (called edema)
What is Alport syndrome life expectancy?
Can you live a normal life with Alport syndrome?
Prognosis of Alport syndrome
Most men with Alport syndrome reach end-stage kidney disease and kidney failure by their 40s or 50s, which can reduce lifespan if not managed with dialysis or a kidney transplant. Most women with Alport syndrome have a normal lifespan.
How rare is Alport syndrome?
Alport syndrome is estimated to affect approximately 1 in 5,000-10,000 people in the general population in the United States, which means that approximately 30,000-60,000 people in the United States have the disorder.