Background. Alport syndrome is a rare genetic kidney disease, and rheumatoid arthritis as a common autoimmune disease also causes renal lesions in addition to arthritis.
Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a defect (mutation) in a gene for a protein in the connective tissue, called collagen. The disorder is rare.
How do you get Alport syndrome?
Alport syndrome is an inherited disease, which means it is passed down through families. It is caused by changes in your genes (mutations) to a protein called collagen. Collagen is important to the normal structure and function of the kidneys. Changes to collagen can also cause problems with the eyes and ears.
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 hereditary?
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.
How is Alport syndrome inherited?
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 a disability?
The syndrome is very similar in its symptoms to glomerulonephritis, but can also damage eyesight and hearing. Although having the disease alone is not yet sufficient to apply for disability benefits, the Alport Syndrome can debilitate those who have it and render them disabled.
Is Alport syndrome a chronic kidney disease?
Alport syndrome is a rare genetic disorder characterized by progressive kidney disease and abnormalities of the inner ear and the eye. There are three genetic types. X-linked Alport syndrome (XLAS) is the most common; in these families affected males typically have more severe disease than affected females.
Can Alport syndrome be cured?
Alport syndrome is an inherited disorder that is characterized by progressive kidney damage, hearing problems, and eye abnormalities. There is currently no cure for Alport syndrome and treatments are limited, but research is ongoing and various therapies are used to help patients manage its symptoms.
Is Alport syndrome curable?
Alport syndrome is an inherited disorder that is characterized by progressive kidney damage, hearing problems, and eye abnormalities. There is currently no cure for Alport syndrome and treatments are limited, but research is ongoing and various therapies are used to help patients manage its symptoms.
Is there a cure for Alport syndrome?
Currently, there is no specific treatment for Alport syndrome. The goal is to treat the symptoms and help slow the progression of kidney disease. This may include: ACE inhibitor or ARB medicines (medications to control high blood pressure)Sep 21, 2018
How is Alport syndrome diagnosed?
Diagnosis. Alport syndrome is suspected based on a family history or clinical signs of the condition. A doctor may order a kidney biopsy to look for signs of the condition such as abnormalities of the cells of the glomeruli.
Is Alport syndrome genetic?
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.
Which kidney disease is known to be inherited?
Autosomal Dominant Polycystic Kidney Disease (ADPKD): The most common inherited kidney illness, ADPKD causes cysts to form on the kidneys. It occurs in about one in 800 people, and is passed down from parent to child through generations.
What are the first signs of kidney problems?
– Decreased urine output, although occasionally urine output remains normal.
– Fluid retention, causing swelling in your legs, ankles or feet.
– Shortness of breath.
– Fatigue.
– Confusion.
– Nausea.
– Weakness.
– Irregular heartbeat.
How is Alport syndrome treated?
Currently, there is no specific treatment for Alport syndrome. The goal is to treat the symptoms and help slow the progression of kidney disease. This may include: ACE inhibitor or ARB medicines (medications to control high blood pressure)Sep 21, 2018
Does kidney disease run in the family?
Kidney disease also runs in families. You may be more likely to get kidney disease if you have a close relative with kidney disease.
Last Review : 7 days ago.
Don’t forget to share this post !
References