| Alport Syndrome (AS) is an inherited disorder of | | | | There may be nerve deafness and congenital eye |
| the basement membranes of the kidney, eye and | | | | abnormalities associated with Alport syndrome. |
| ear. People who inherit defective genes for the | | | | The cause is a mutation in a gene for collagen. |
| "collagen" proteins in these basement membranes | | | | The disorder is uncommon, and most often |
| may develop progressive loss of renal function, | | | | affects males since the genetic defect is typically |
| deafness and abnormalities of the eye. In the | | | | found on the X chromosome. |
| kidneys, glomerular basement membranes | | | | Genes that Cause Renal Failure: Dialysis patients |
| normally act like filters, allowing fluid to move | | | | and their relatives with diabetes, high blood |
| from blood vessels to urine while retaining protein | | | | pressure and/or kidney failure are sought for a |
| and red blood cells within the bloodstream. Thus, | | | | study at Case Western Reserve University to |
| one of the early signs of Alport syndrome may | | | | identify genes that contribute to or cause renal |
| be leakage of small amounts of blood or protein | | | | failure. Family participants will each receive $25 for |
| into the urine during childhood.Collagen-containing | | | | their blood sample and complete medical and |
| membranes are also important for the shape of | | | | family histories. |
| the lens of the eye and the structure of the inner | | | | Other common mutations lead to premature |
| ear. | | | | termination of protein translation and loss of the |
| Causes | | | | carboxy-terminal NC1 domain, resulting in |
| Alport syndrome is an inherited form of kidney | | | | defective interchain association and formation of |
| inflammation (nephritis). It's caused by a mutation | | | | the collagen network. |
| in a gene for a protein in connective tissue, called | | | | Symptoms |
| collagen. The disorder is uncommon, and most | | | | Hearing loss can be present at birth (congenital) or |
| often affects males. Women can transmit the | | | | become evident later in life (acquired deafness). |
| gene for the disorder to their children, even if | | | | The distinction between acquired and congenital |
| they have no symptoms. | | | | deafness specifies only the time that the |
| When mutations prevent the formation of type | | | | deafness appears. It does not specify whether |
| IV collagen fibers, the basement membranes of | | | | the cause of the deafness is genetic (inherited). |
| the kidneys are not able to filter waste products | | | | Treatment |
| from the blood and create urine normally, allowing | | | | There is no cure for Alport’s syndrome, but |
| blood and protein into the urine. The abnormalities | | | | treatment is available to ensure the kidneys can |
| of type IV collagen in kidney basement | | | | function as fully as possible. This includes limiting |
| membranes cause gradual scarring of the kidneys, | | | | your intake of salts and fluids, high amounts of |
| eventually leading to kidney failure in many people | | | | which put too much strain on the kidneys. Your |
| with the disease. | | | | doctor will also recommend that you take steps |
| Approximately 50-80% of patients with X-linked | | | | to control your blood pressure and potassium |
| Alport syndrome have mutations in the COL4A5 | | | | levels. If you have nephrotic syndrome, your |
| gene. Several hundred mutations, including | | | | doctor will recommend lowering your fluid intake; |
| missense mutations, splice-site mutations, and | | | | taking medications called diuretics, which help the |
| small deletions account for most cases of X-linked | | | | kidneys eliminate wastes from the body by |
| Alport syndrome. Few mutations have been found | | | | increasing urinatation; and eliminating all salts from |
| in more than 1 family. | | | | your diet. You may also need to receive a |
| Alport syndrome is a form of hereditary nephritis. | | | | transfusion of albumin. |