How does Alport syndrome affect the eyes?

Alport Syndrome is linked with certain lens abnormalities (also known as ‘anterior lenticonus’) which can lead to worsening eyesight and possibly cataracts (that may need removing). Some people may experience ‘corneal erosion’ which could give symptoms of dryness and itchiness.

Can Alport cause blindness?

Temporal retinal thinning is very common in men and women with X-linked Alport syndrome, and with recessive disease (Figure 4, G–J) (4,55).

What are the symptoms of Alport syndrome?

What are the signs and symptoms of 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 the life expectancy of someone 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 does Alport syndrome cause sensorineural hearing loss?

Progressive hearing loss (sensorineural deafness) occurs frequently in people with Alport syndrome. Sensorineural deafness results from impaired transmission of sound input from the inner ears (cochleae) to the brain via the auditory nerves. The hearing loss is bilateral, meaning it affects both ears.

Can you live a normal life with Alport syndrome?

Women usually have a normal lifespan with no signs of the disease except for blood in the urine. In rare cases, women have high blood pressure, swelling, and nerve deafness as a complication of pregnancy. In men, deafness, vision problems, and end-stage kidney disease are likely by age 50.

Who gets Alport syndrome?

Alport syndrome occurs in approximately 1 in 50,000 newborns.

Is Alport syndrome life threatening?

Most affected individuals will experience end-stage renal disease and deafness by age 40. Without regular dialysis treatments or renal transplant, a patient’s life expectancy may be reduced.

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.

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.

Is Alport syndrome dominant or recessive?

Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.

Can Alport syndrome skip a generation?

We have chosen to use the term affected here. X-linked Alport syndrome is underdiagnosed in women. The generation skipping observed in X-linked families reflects the presence of undiagnosed women. This occurs because female relatives of affected men are not systematically screened in adult nephrology practice.

What is Alport syndrome of the eye?

Alport syndrome, also known as hereditary nephritis is a genetic disorder arising from the mutations in the genes encoding alpha-3, alpha-4, and alpha-5 of type 4 collagen (COL4A3, COL4A4, COL4A5) or collagen 4 α345 network. The type 4 collagen alpha chains are primarily located in the kidneys, eyes … Alport Syndrome Review

What does the COL4A5 gene do?

The COL4A5 gene provides instructions for making one component of type IV collagen, which is a flexible protein. Specifically, this gene makes the alpha5 (IV) chain of type IV collagen. This chain combines with two other types of alpha (IV) chains (the alpha3 and alpha4 chains) to make a complete type IV collagen molecule.

Which physical findings are characteristic of Alport syndrome (XLas)?

All individuals have normal skin reactivity for the collagen α5 (IV) chain. Hearing loss in Alport syndrome is never congenital. Diminished hearing is frequently detectable by late childhood or early adolescence in boys with XLAS.

Is Alport syndrome an autosomal dominant disorder?

Alport syndrome is a familial renal disorder caused by pathogenic variants in COL4A3, COL4A4, and COL4A5 that result in abnormalities of the collagen IV α345 network of basement membranes [ Kashtan et al 2018 ]. Alport syndrome can be transmitted in an X-linked (XLAS), autosomal dominant (ADAS), or autosomal recessive (ARAS) pattern.