Primary Prevention: To prevent the transmission of Alport syndrome, genetic counselling and diagnostic testing are recommended before conception and during pregnancy. Secondary Prevention: Regular check-ups are crucial, including ongoing blood and urine tests, as well as ENT, audiometric, and ophthalmic evaluations.

Alport Syndrome

Q: Management strategies

For children diagnosed with Alport syndrome, early intervention is key. A carefully managed diet low in protein and minerals can help delay the onset of chronic renal failure. In more severe cases, where the disease leads to advanced nephritis, long-term dialysis treatment may become necessary, and eventually, a kidney transplant might be required. Overall, while there is no specific treatment to cure Alport syndrome, these strategies aim to manage symptoms, slow disease progression, and improve the quality of life for affected individuals.

Understanding Alport Syndrome and its Impact on Hearing

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What is Alport Syndrome or Hereditary Nephritis?

Alport syndrome, often referred to as hereditary nephritis, is a rare genetic condition present from birth. This syndrome causes progressive sensorineural hearing loss by school age and also affects kidney function and vision. It results from abnormalities in collagen production—a vital protein that supports the structure of connective tissues and the basement membranes in the kidneys, eyes, and ears. Early diagnosis is crucial for addressing the impacts on hearing, sight, and renal health.

What causes Alport syndrome?

Alport syndrome, first identified in 1927 by Dr. Arthur Cecil Alport, is an X-linked genetic disorder that affects collagen production. This causes problems in the kidneys, ears, and eyes. Males usually experience severe symptoms, such as significant kidney disease and hearing loss, while females often have milder issues like hearing loss and blood in the urine, but without major kidney problems. The condition can vary greatly in how it affects each person, even within the same family, and can impact both children and adults differently.

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What are the different types of Alport syndrome?

X-linked Alport Syndrome: This is the most common form of Alport syndrome, caused by mutations in the COL4A5 gene. It primarily affects males, though females can also be carriers and show symptoms.
Autosomal Recessive Alport Syndrome: This type results from mutations in the COL4A3 or COL4A4 genes. It generally leads to more severe symptoms and affects both males and females equally.
Autosomal Dominant Alport Syndrome: This rarer form is linked to mutations in the COL4A3 or COL4A4 genes as well, but it usually presents with milder symptoms. It can be inherited from just one affected parent.

Why is genetic counselling important?

Genetic counselling plays a crucial role for individuals and families dealing with Alport syndrome. It offers essential support in several key areas:

Understanding Genetic Risks: Genetic counselling helps identify carriers of Alport syndrome and explores the potential implications for family planning. This guidance is vital for making informed decisions about future pregnancies and managing genetic risks.
Predictive Testing: Counsellors provide access to tests that can determine whether someone is at risk of developing Alport syndrome or passing it on to their children. This early information enables proactive management and preparation for possible outcomes.

What are the symptoms of Alport syndrome?

Alport syndrome arises from faulty collagen synthesis, leading to a range of characteristic symptoms:

Kidney dysfunction: One of the primary effects of Alport syndrome is renal fibrosis, which causes chronic renal failure. This manifests as blood in the urine (haematuria) and protein loss (proteinuria), collectively referred to as hereditary progressive heterogeneous nephropathy.
Hearing loss: The syndrome frequently leads to progressive sensorineural hearing loss, especially in the frequency range between 2000 and 8000 Hz. This hearing impairment typically develops gradually and often becomes noticeable by early adulthood, though it may not be present in early childhood.
Vision problems: Eye symptoms are also common and can include retinal lesions and intraocular hypertension, which may lead to visual disturbances and cataracts.

How Alport Syndrome affects hearing

Alport syndrome often leads to significant hearing loss that may require the use of hearing aids. Patients typically experience bilateral, progressive sensorineural deafness, which initially affects high-frequency sounds and gradually extends to middle and low frequencies. This hearing loss progresses unpredictably, impacting the ability to understand speech, particularly in noisy settings.

In addition to auditory issues, patients may experience visual problems such as lenticonus or retinopathy. These combined sensory impairments can interfere with social interactions and job performance, potentially causing communication challenges, social isolation, and depression. Although Alport syndrome primarily affects hearing, its impact on vision is generally less pronounced. Customised hearing aids are essential for improving quality of life and maintaining social and professional engagement.

How is Alport Syndrome treated?

Currently, there is no cure for Alport syndrome. Treatment focuses on managing symptoms and slowing the progression of the disease. This involves regular monitoring through blood and urine tests, audiometric examinations by an ENT specialist, and periodic eye exams.

Preventive measures

Primary Prevention: To prevent the transmission of Alport syndrome, genetic counselling and diagnostic testing are recommended before conception and during pregnancy.
Secondary Prevention: Regular check-ups are crucial, including ongoing blood and urine tests, as well as ENT, audiometric, and ophthalmic evaluations.

Management strategies

For children diagnosed with Alport syndrome, early intervention is key. A carefully managed diet low in protein and minerals can help delay the onset of chronic renal failure. In more severe cases, where the disease leads to advanced nephritis, long-term dialysis treatment may become necessary, and eventually, a kidney transplant might be required.

Overall, while there is no specific treatment to cure Alport syndrome, these strategies aim to manage symptoms, slow disease progression, and improve the quality of life for affected individuals.

The role of hearing aids in managing hearing loss

Hearing aids are crucial tools for individuals with Alport syndrome who experience hearing loss. These devices amplify sound, making it easier to hear and understand speech and other important sounds. Modern hearing aids come in various styles and sizes, from discreet in-the-ear models to more powerful behind-the-ear options. They are equipped with advanced technology that can be customised to meet specific hearing needs, such as adjusting for different environments and reducing background noise. For individuals with Alport syndrome, hearing aids not only improve communication and quality of life but also help manage the progressive nature of hearing loss associated with the condition. Regular consultations with an audiologist ensure that hearing aids are properly fitted and adjusted, providing ongoing support as hearing needs change over time.

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