There are over 60 known inherited kidney diseases, which range from common conditions to very rare diseases. Some inherited kidney conditions include:
Autosomal dominant polycystic kidney disease (ADPKD)
An autosomal dominant inherited kidney disease characterized by the growth of numerous cysts in the kidneys. Symptoms can vary in severity. Most people start developing symptoms between the ages of 30 and 40. ADPKD is a progressive disease, which means the symptoms tend to get worse over time.
ADPKD is the most common type of inherited kidney disease. In the United States, about 1 in every 800 people have ADPKD and it is the fourth leading cause of kidney failure. It is found equally in men and women and causes about 5% of all kidney failure.
The most common symptoms of ADPKD are:
- kidney cysts
- pain in the back and the sides
Other symptoms include:
- liver and pancreatic cysts
- urinary tract infections
- abnormal heart valves
- high blood pressure
- kidney stones
- brain aneurysms
Treatment for ADPKD involves managing the symptoms and slowing disease progression. The most serious complication of ADPKD is kidney disease and kidney failure.
An inherited genetic disease that damages kidneys. Alport syndrome is caused by changes (mutations) in collagen protein genes. Collagen is an important protein that is needed to maintain normal function in the kidneys.
People with Alport syndrome have tiny blood vessels in the glomeruli of the kidneys that are damaged, which means they cannot filter the wastes and extra fluid produced by the body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes due to the changes in their collagen genes.
An autosomal recessive inherited disorder, which occurs when a person receives an abnormal copy of the cystinosin gene from each parent. In people with cystinosis, a buildup of cystine can lead to the formation of crystals. Cystinosis can impact many parts of the body, including the eyes, muscles, brain, heart, white blood cells, thyroid, and pancreas as well as causing serious kidneys problems.
An inherited disorder that happens when the gene that controls the body's ability to make the enzyme, alpha GAL, is abnormal. As a result, the body makes little or no alpha GAL, or the enzyme does not function properly. Fabry disease can affect the heart, nervous system and kidneys. Because of the way the Fabry disease is inherited, men tend to develop more severe symptoms and are at higher risk for kidney disease. Women may have no symptoms or mild symptoms. However, women can still develop symptoms of Fabry disease, such as neuropathic pain and digestive problems. Heart disease is also more common among women with Fabry disease.
An autosomal recessive inherited disorder which occurs when a person receives an abnormal copy of the SLC12A3 or CLCNKB genes from each parent. Gitelman syndrome is a kidney function disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. It is usually diagnosed during late childhood or adulthood. The most common symptoms of Gitelman syndrome include:
- salt craving
- frequent urination
- muscle cramping
- muscle weakness
- tingling or numbness
- low blood pressure
- heart palpitations
Tuberous sclerosis complex (TSC)
An autosomal dominant inherited genetic disorder, which occurs when a person receives an abnormal copy of the TSC gene from one parent. Symptoms of tuberous sclerosis complex begin before birth and might be noted on ultrasound, such as tumors in the brain and heart. Seizures, intellectual disability, and developmental delay usually appear in childhood. Other symptoms that might develop in childhood include skin changes and kidney symptoms caused by tumors. Brain tumors usually grow during childhood and in teen years, which may lead to other concerns, such as hydrocephalus. In adulthood, kidney and pulmonary symptoms become more common.
Nephronophthisis (NPHP) is an autosomal recessive inherited disorder characterized by inflammation and scarring that impairs kidney function.
These abnormalities can lead to:
- increased urine production
- excessive thirst
- general weakness
- extreme tiredness
In addition, people with NPHP develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of NPHP is a shortage of red blood cells, a condition known as anemia.
NPHP often leads to kidney failure, a life-threatening condition that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. NPHP can be classified by the approximate age at which kidney failure begins -- around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).
It is the most frequent genetic cause of kidney failure in children. NPHP may be combined with other health problems other than kidney disease, such as liver fibrosis or cardiac malformations. When NPHP is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (NPHP1); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome; and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome. Because most NPHP genetic abnormalities occur in the cilium, NPHP and the related syndromes are known as “ciliopathies.”
There are at least 20 genetic variants (types) of NPHP that have been identified, with more pending confirmation. These variants are caused by genetic mutations (changes) that occur within different genes. For example, NPHP1 is caused by mutation in the nephrocystin 1 gene.