What is the history of Alport Syndrome?

When was Alport Syndrome discovered? What is the story of this discovery? Was it coincidence or not?

History of Alport Syndrome

Alport Syndrome is a genetic disorder that primarily affects the kidneys and can also involve the ears and eyes. It was first described by Dr. Cecil Alport, a British physician, in 1927. Dr. Alport noticed a pattern of progressive kidney disease in several generations of a family he was treating, and he published his findings in the British Medical Journal.

The discovery of Alport Syndrome:

Dr. Alport's initial observations led to the recognition of a distinct hereditary form of kidney disease, which later became known as Alport Syndrome. He noted that affected individuals experienced blood in their urine (hematuria) and often developed hearing loss. Dr. Alport also recognized that the disease predominantly affected males and was passed down through generations in an X-linked pattern.

Further research and understanding:

Over the years, researchers expanded their knowledge of Alport Syndrome. In the 1950s, electron microscopy allowed scientists to identify characteristic changes in the basement membrane of the kidney, which is a key feature of the disease. This breakthrough helped establish a definitive diagnosis for Alport Syndrome.

In the 1980s, researchers discovered that Alport Syndrome could also be inherited in an autosomal recessive pattern, meaning it could affect both males and females equally. This finding broadened the understanding of the disease and explained cases where females were affected.

Genetic discoveries:

In the 1990s, genetic studies led to the identification of the genes responsible for Alport Syndrome. Mutations in the COL4A3, COL4A4, and COL4A5 genes were found to be associated with the disease. These genes provide instructions for producing collagen, a protein that is essential for the structure and function of the basement membrane in the kidneys, ears, and eyes.

Advancements in diagnosis and treatment:

With the identification of the causative genes, genetic testing became available for diagnosing Alport Syndrome. This allowed for earlier and more accurate diagnosis, enabling individuals to receive appropriate medical management and counseling.

Although there is currently no cure for Alport Syndrome, advancements in treatment have improved the quality of life for affected individuals. Medications, such as angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), can help manage high blood pressure and slow the progression of kidney disease. In some cases, kidney transplantation may be necessary.

Research and ongoing studies:

Scientists continue to investigate Alport Syndrome to gain a deeper understanding of its underlying mechanisms and develop potential therapies. Animal models have been created to study the disease and test new treatments. Researchers are exploring gene therapy approaches, stem cell transplantation, and other innovative strategies to address the genetic defects and potentially halt or reverse the progression of Alport Syndrome.

Support and advocacy:

Various organizations and support groups have been established to provide resources, support, and advocacy for individuals and families affected by Alport Syndrome. These groups play a crucial role in raising awareness, funding research, and connecting individuals with medical professionals and researchers.

In conclusion, Alport Syndrome was first described by Dr. Cecil Alport in 1927. Since then, significant progress has been made in understanding the genetic basis of the disease, improving diagnosis and treatment options, and advancing research efforts. While there is still much to learn, ongoing studies and the dedication of scientists, clinicians, and support organizations offer hope for better outcomes and potential future therapies for individuals with Alport Syndrome.

2 answers
Alport syndrome is named after British doctor A. Cecil Alport, who in 1927 described three generations of a family with combinations of progressive hereditary nephritis and deafness. Dr. Alport also observed that blood in the urine (hematuria) was the most common symptom and that males were affected more severely than females. Subsequently, many more families were described and the disease was named Alport syndrome in 1961.

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My name is Sarah I'm from East Yorkshire, England. I was diagnosed at the age of 2. I have been under the watch of hospitals my whole life. In 2010 I was told my kidney was failing a year later I was on Pd dialysis. During this time my brother also w...
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My son was diagnosed with Alports after he contracted meningococcal septicemia at the age of 2, it wasn't for another 2 years at the age of 4 that they discovered what it was he was suffering from. Genetics revealed that both me an my son's father(se...
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In 2012 our youngest daughter, born in 2010, got hospitalized due to pneumonia. During basic testings they discovered protein and microscopic hematuria in her urine samples, and since they couldn't find any reason to why they sent her for a genetic s...
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My dad, Lee Spracklen, knew the minute I was born a girl that I had Alport Syndrome.  My dad had it and our family has X linked Alports.  Which meant he gave me his bad X. My dad had issues with his kidneys as a young boy. And had a kidney transpla...
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Born with Alports. Has been medicated since he was 2 months. Could not tell anything was wrong at all. In the last few years he has lost a bit of hearing and had to get glasses. Now he is 18 and we are in the first steps of starting the transplant. ...

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