תסמונת אלפורט

תיאור

Alport syndrome is a genetic condition characterised by kidney disease, hearing loss, and eye abnormalities.

People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys gradually lose their ability to efficiently remove waste products from the body, resulting in end-stage kidney disease (ESKD).

In late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also have misshapen lenses in their eyes (anterior lenticonus) and abnormal coloration of the retina, which is the light-sensitive tissue at the back of the eye. These eye abnormalities seldom lead to vision loss.

Inheritance patterns

The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant; X-linked. More than one pattern can apply in different cases.

Related genes

• COL4A5

• COL4A3

• COL4A4

Other names

Congenital hereditary hematuria

Hematuria-nephropathy-deafness syndrome

Hematuric hereditary nephritis

Hemorrhagic familial nephritis

Hemorrhagic hereditary nephritis

Hereditary familial congenital hemorrhagic nephritis

Hereditary hematuria syndrome

Hereditary interstitial pyelonephritis

Hereditary nephritis