While the leading cause of kidney disease is diabetes, many other factors can lead to kidney disease and failure, including a collection of rare and genetic conditions. According to the National Organization for Rare Diseases (NORD), a disease is considered rare if it affects fewer than 200,000 people in the United States. Today, 30 million Americans are living with rare diseases. The American Kidney Fund is committed to improving the understanding of rare kidney diseases.  

IgA Nephropathy.

IgA nephropathy (IgAN) triggers the immune system to produce abnormal antibodies that accumulate in the kidneys, leading to inflammation and reduced kidney function, which can damage the kidneys and potentially lead to kidney failure.  

 APOL1-Mediated Kidney Disease.

Known as AMKD, this is a spectrum of kidney diseases associated with variants (mutations) in the apolipoprotein L1 (APOL1) gene. Everyone has two copies of the APOL1 gene, but mutations of the gene can raise the chance of rapidly progressive kidney disease in people of Western and Central African descent. 

 Polycystic Kidney Disease.

Polycystic kidney disease (PKD) is a genetic disease that causes cysts to grow inside the kidneys. There are two forms of PKD: Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The former is more prevalent, accounting for about 9 of 10 cases of PKD. 

Cystinosis.

A rare, multisystem genetic disease, cystinosis accounts for nearly 5% of all childhood cases of kidney failure, although some people with cystinosis do not develop kidney disease until they’re teens or adults. Caused by mutations in the CTNS gene, cystinosis happens when cystine, a component of protein, builds up in your body’s cells. Too much cystine causes crystals to form, which can damage organs including the kidneys, eyes, pancreas, liver, and brain. 

Complement 3 Glomerulopathy.

With complement 3 glomerulopathy (C3G), a part of the immune system called the complement system becomes overactive and doesn’t work properly, leading to damage and inflammation in the kidneys. C3G damages the kidneys’ glomeruli, which help the kidneys filter toxins out of the blood. It can cause kidney failure in about half of adults who are diagnosed with the disease. 

One patient, Michelle Farley, had high blood pressure and an irregular heartbeat in her youth, and suffered from daily vomiting and weekly headaches while in college. A trip to her college medical center revealed extremely high blood pressure. Although her bloodwork determined that she had markers for kidney disease, she was not diagnosed until she was 25. “I was left undiagnosed for almost 22 years due to preconceived notions of how disabilities and sicknesses should ‘look’ on the outside and how old you need to be to have a chronic disease,” says Farley. “I think it’s important to spread awareness about rare kidney diseases so patients can be diagnosed faster and more accurately. I always wonder how long I could have maintained my native kidneys if I were diagnosed as a child.” 

Learn more about rare kidney diseases and the Rare Kidney Disease Action Network by visiting kidneyfund.org.