A genetic disease, also known as a hereditary disease, is passed down through the genes of a parent to their child. Genetic diseases cannot be prevented, but there are medicines that can help to treat and manage certain ones.
Alport syndrome is caused by mutations in three genes that determine the way certain parts of the body are shaped. As a result, parts of the kidneys, ears, and eyes do not grow correctly. Alport syndrome always causes kidney disease and can cause hearing loss and eye problems. Symptoms can begin at many different ages, from early childhood to late adolescence or even adulthood. Learn more about Alport syndrome.
Autosomal recessive polycystic kidney disease (ARPKD)
There are two types of polycystic kidney disease: autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic kidney disease (ADPKD). Compared to autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD) is much less common and symptoms begin earlier in life.
Autosomal recessive polycystic kidney disease (ARPKD) causes cysts to form in the kidneys and the liver. The cysts make the kidneys much larger than they should be and therefore damage the kidneys’ tissue. Symptoms of the disease can begin before birth and can cause life-threatening problems in infants. Learn more about autosomal recessive polycystic kidney disease (ARPKD).
Cystinosis is a genetic disease that causes cystine, a building block of protein, to build up in the body’s cells. This can cause damage to the body’s organs including the kidneys, eyes, pancreas, liver, and brain. People with cystinosis must inherit a mutated gene from each parent to develop the condition.
Nephropathic cystinosis is the most common type of cystinosis, and symptoms begin in early childhood. According to research on the disease, 95% cases of cystinosis are nephrotic cystinosis. According to the Cystinosis Research Network, at any given time, there are 500 to 600 children in the United States with cystinosis, and about 15-20 new patients every year. The two main symptoms of nephropathic cystinosis are damage to the kidneys and eyes, which can lead to kidney failure or blindness if left untreated.
There is not a cure for nephropathic cystinosis, but there are medicines that can slow its progression by lowering the amount of cystine that builds up in the body. These treatments can allow patients with the condition to live longer lives with fewer health complications. Learn more about cystinosis.
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