There are more than 150 different rare kidney diseases. In the U.S., a rare disease is defined as a condition that affects fewer than 200,000 people. Although each individual type of rare kidney disease affects a small number of people, when combined, rare kidney diseases have a big impact. Altogether, rare kidney diseases affect 60 to 80 out of every 100,000 people. Many of these rare kidney diseases can cause severe damage to the kidneys, leading to kidney failure or end-stage renal disease (ESRD) where the kidneys can’t perform their functions well enough.

Depending on its cause, most rare kidney diseases fall into one of two main categories — inherited kidney disease or autoimmune disease. In this article, we’ll take a closer look at some of the more common rare kidney diseases in each category.

Inherited Kidney Diseases

When kidney disease is passed down through families, it’s known as an inherited disease, or genetic disease. About 80 percent of all rare kidney diseases are inherited.

In an inherited kidney disease, a genetic mutation (change) is passed from parent to child. The genetic mutation can cause your body to make defective or missing versions of certain proteins that affect your kidney function. Genetic testing can help healthcare providers identify changes in specific genes or proteins that can cause an inherited kidney disease.

Researchers know about more than 60 different types of inherited kidney disease. We’ll explore some of the most common below.

Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common type of inherited kidney disease in the U.S. and globally. ADPKD affects about 600,000 people in the U.S. (about 1 in every 800 people) and causes about 5 percent of all cases of kidney failure. “Autosomal dominant” means you can inherit ADPKD even if one parent has the genetic mutation, and you have a 50 percent chance of getting the disease.

It’s caused by a genetic mutation that makes fluid-filled sacs called cysts on the kidneys. When there are many cysts or very large cysts, it can cause damage to the healthy tissue of the kidney. Symptoms of ADPKD usually don’t appear until adulthood, when affected people reach their 30s or 40s. ADPKD symptoms typically get worse over time. Complications often include pain, hypertension (high blood pressure), and kidney failure.

Alport Syndrome

Alport syndrome is an inherited kidney disease affecting about 1 in every 50,000 people around the world. People with Alport syndrome have mutations in the genes that control how your body makes collagen — a protein that acts like a binding agent and gives your organs strength and structure.

In Alport syndrome, abnormal collagen damages the tiny blood vessels in the kidneys, allowing blood and proteins to leak into the urine. Kidney blood vessel damage in Alport syndrome typically gets worse over time. In addition to kidney problems, Alport syndrome can also cause vision and hearing problems.

According to the National Organization for Rare Disorders (NORD), about half of males with Alport syndrome who don’t receive treatment develop kidney failure by age 25, and the rate increases with age. However, females with Alport syndrome may not develop kidney failure until they’re older, according to NORD.

Cystinosis

Cystinosis is a rare condition that affects 1 in every 100,000 to 200,000 people globally. In cystinosis, a genetic mutation causes a buildup of cystine (a protein building block) in your body. When there’s too much cystine, it can form crystals in your organs. Cystine crystals can form in many different organs, but the most common and severe form affects the kidneys. Symptoms of cystinosis typically begin in babies and can progress to kidney failure by age 10 without treatment.

Fabry Disease

Fabry disease is a genetic disorder that’s more common in men than women because of the way it’s inherited, according to the National Kidney Foundation. In Fabry disease, the body makes little or no alpha-GAL protein. Without a functioning alpha-GAL protein, sphingolipids (harmful fatty substances) can build up in tissues and organs, including the kidneys, heart, and nervous system.

People with classic Fabry disease usually develop symptoms in childhood or adolescence. Without treatment, the symptoms get worse over time. This classic form is rarer and affects about 1 in every 40,000 men, according to Cleveland Clinic. Late-onset Fabry disease is more common, affecting 1 in every 1,500 to 4,000 men. Men with the late-onset form typically don’t develop symptoms until they’re adults.

Other Types of Inherited Kidney Disorders

There are many other types of inherited kidney disorders. A few more examples include:

• Gitelman syndrome — A condition that causes salt imbalance
• Tuberous sclerosis complex — A condition that causes tumors on the kidneys, brain, and heart
• Nephronophthisis — A condition that causes cysts and scarring in the kidneys
• Apolipoprotein L1-mediated kidney disease — A genetic mutation that can cause kidney damage, especially in people with Western African or Central African ancestry, according to the American Kidney Fund.
• Congenital abnormalities of the kidneys and urinary tract — Birth defects that affect how the kidneys work
• Lowe syndrome — A condition that causes eye, brain, and kidney problems in males

Autoimmune Kidney Diseases

An autoimmune disease is a condition where your immune system mistakenly attacks healthy tissues in your body, causing inflammation. There are more than 100 different autoimmune diseases, many of which can affect your kidneys. We’ll explore some of the most common autoimmune kidney diseases below.

Lupus Nephritis

Lupus nephritis is a kidney disease caused by systemic lupus erythematosus (SLE). Although SLE can damage other organs, kidney damage is common. About 1 in 3 people diagnosed with SLE have lupus nephritis. However, the longer you have SLE, the more likely you are to develop kidney problems. About half of people with SLE will eventually develop lupus nephritis.

SLE is most commonly diagnosed in women between the ages of 15 and 44, according to Cleveland Clinic. However, men and children with SLE are more likely to develop lupus nephritis, according to the National Institute of Diabetes and Digestive and Kidney Diseases.

Complement 3 Glomerulopathy and Immune Complex Membranoproliferative Glomerulonephritis

Complement 3 glomerulopathy (C3G) and immune complex membranoproliferative glomerulonephritis (IC-MPGN) are rare kidney diseases that occur when the complement system (a part of the immune system) is overactive or doesn’t work the way it should. C3G is very rare, affecting 2 to 3 people out of every 1 million people. In C3G, extra complement protein 3 gets deposited in the kidneys, while in IC-MPGN, certain immunoglobulins or antibodies and some complement proteins like C3 form immune complexes that get stuck in the kidney tissues.

In C3G and IC-MPGN, complement proteins and immune complexes damage the glomeruli (the filtering unit of the kidney). These conditions are caused by both genetic changes and immune system changes. Most people are diagnosed with C3G as children or young adults. IC-MPGN mostly develops along with other diseases or infections. Up to 35 percent of people progress to kidney failure within 10 years of being diagnosed with C3G or IC-MPGN.

IgA Nephropathy

IgA nephropathy is an autoimmune condition where an immune protein called IgA builds up in the kidney and damages the glomeruli. In the U.S., about 1 in every 10 kidney biopsies has evidence of IgA nephropathy. It’s most commonly diagnosed in people between the ages of 10 and 40.

People with IgA nephropathy can have serious complications, including high blood pressure, chronic kidney disease, and nephrotic syndrome. About 20 percent of people develop kidney failure within 10 years of their IgA diagnosis.

Goodpasture Syndrome

Goodpasture syndrome is an autoimmune condition where abnormal antibodies (immune proteins) attack collagen in the kidneys and lungs. Fewer than 2 people in every 1 million are diagnosed with this condition each year. People of all ages develop Goodpasture syndrome, but it’s most commonly diagnosed in teens and young adults, and in people older than 60.

Without treatment, Goodpasture syndrome can cause life-threatening kidney failure and bleeding into the lungs. However, early treatment can help prevent these complications. Goodpasture syndrome rarely comes back after treatment.

Other Types of Autoimmune Kidney Diseases

Several other types of autoimmune disease can cause inflammation in blood vessels around the body, also called vasculitis. When vasculitis affects blood vessels in the kidneys, it’s called renal vasculitis. Some of the types of vasculitis associated with kidney disease include:

• Anti-neutrophil cytoplasmic autoantibody-associated vasculitis, including granulomatosis with polyangiitis and microscopic polyangiitis
• Henoch–Schönlein purpura
• Polyarteritis nodosa

Talk With Others Who Understand

On MyKidneyDiseaseTeam, people with kidney disease and their loved ones come together to ask questions, give advice, and share their stories with others who understand life with kidney disease.

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