Alport Syndrome

Alport syndrome is a hereditary disease that affects the kidneys’ ability to filter blood. Due to a genetic defect in the production of type IV collagen, the filtering structure of the kidneys becomes damaged over time. It most commonly presents with blood and protein leakage in the urine; in later stages, hearing and vision problems may develop. With early diagnosis and appropriate treatment, the progression to kidney failure can be slowed down.

Key Takeaways

• Alport syndrome is a genetic disorder that progressively impairs the kidneys’ ability to filter blood. The most common sign is the presence of blood in the urine.
• As the disease advances, protein in the urine, high blood pressure, hearing loss, and eye problems may occur.
• There is no definitive cure; however, with early diagnosis, regular follow-up, and appropriate medication, kidney damage can be slowed down.

What is Alport Syndrome?

Alport syndrome is a genetic collagen disorder that affects the filtering units in the kidneys known as glomeruli. A defect in the structure of type IV collagen reduces the kidneys’ filtration capacity and may lead to permanent damage over time. The disease can affect not only the kidneys but also the inner ear and ocular tissues. For this reason, nephrological as well as auditory and visual symptoms may be observed together.

What are the different types?

Alport syndrome is classified into different types according to its mode of inheritance. The type of the disease depends on the pattern of genetic transmission and the affected collagen gene. The most common form shows X-linked inheritance and tends to follow a more severe course in males. More rarely, autosomal recessive and autosomal dominant forms are observed.

Types of Alport syndrome:

• X-linked Alport syndrome (XLAS) – The most common form
• Autosomal recessive Alport syndrome (ARAS)
• Autosomal dominant Alport syndrome (ADAS)

What are the First Signs of Alport Syndrome?

The first sign of Alport syndrome is most often the presence of microscopic blood in the urine (hematuria). This condition is usually detected during childhood. As the disease progresses, protein leakage in the urine and high blood pressure may develop. In some individuals, early-onset hearing loss may also occur.

Early signs include:

• Blood in the urine (hematuria)
• Protein in the urine (proteinuria)
• High blood pressure
• Early-onset hearing loss

Alport Syndrome Causes

Alport syndrome is caused by mutations in the genes that encode type IV collagen. These genes are known as COL4A3, COL4A4, and COL4A5. A defect in the collagen structure reduces the durability of the kidney filtration barrier. As a result, progressive kidney damage develops over time.

Main causes:

• COL4A3 gene mutation
• COL4A4 gene mutation
• COL4A5 gene mutation
• Family history (hereditary transmission)

How to lower your risk?

Since Alport syndrome is a genetic disorder, it cannot be completely prevented. However, early diagnosis and regular follow-up can help slow the progression of kidney damage. Maintaining blood pressure under control and attending regular nephrology check-ups are essential. Genetic counseling is recommended for individuals with a family history of the condition.

How Doctors Diagnose Alport Syndrome

The diagnosis of Alport syndrome is made based on clinical findings, family history, and laboratory tests. The presence of blood and protein in urine tests provides important clues. For a definitive diagnosis, genetic testing and, in some cases, a kidney biopsy may be performed. Hearing and eye examinations are also part of the evaluation process.

Diagnostic methods:

• Urinalysis (hematuria and proteinuria)
• Blood tests (kidney function tests)
• Genetic testing
• Kidney biopsy
• Hearing test (audiometry)
• Eye examination

How is Alport Syndrome Treated?

There is no definitive cure for Alport syndrome; however, the progression of the disease can be managed. The primary goal of treatment is to slow kidney damage and prevent complications. ACE inhibitors and angiotensin receptor blockers (ARBs) are frequently used to reduce protein leakage. In advanced stages, dialysis or kidney transplantation may be required.

Treatment options:

• ACE inhibitors
• Angiotensin receptor blockers (ARBs)
• Blood pressure control
• Dialysis
• Kidney transplantation

Which medical department should be consulted for alport syndrome?

In cases of suspected Alport syndrome, the Nephrology (Kidney Diseases) department should be consulted first. If hearing or vision complaints are present, specialists in Otorhinolaryngology (ENT) and Ophthalmology are also included in the evaluation process.