What are the signs and symptoms of Alport syndrome, and how is it diagnosed?

[Anonymous]

What are the signs and symptoms of Alport syndrome, and how is it diagnosed?

[Genetic Counselor]

Alport syndrome mainly affects three organs – the kidneys, the ears, and the eyes – though not everyone develops problems in all three, and the pattern depends heavily on which gene is involved and how it is inherited.

• Kidneys. The earliest and most consistent sign is blood in the urine that is too small in amount to see with the naked eye, called microscopic hematuria, often found first on a routine urine test. Over time, protein can also appear in the urine, a sign called proteinuria, which usually signals that scarring is progressing. Without treatment, kidney function can decline steadily, eventually reaching kidney failure, also called end-stage kidney disease, at an age that varies widely depending on the specific gene and variant involved.
• Hearing. Many individuals develop a gradual, permanent hearing loss that originates in the inner ear, called sensorineural hearing loss. It typically begins with high-pitched sounds in later childhood or the teenage years and slowly progresses, and it does not respond to medication, though hearing aids and other devices help significantly.
• Eyes. Some individuals develop a cone-shaped bulging of the lens called anterior lenticonus, which can blur vision and is considered a strong clue toward the diagnosis when present. Others develop small pale or yellow specks scattered around the central part of the retina, called dot-and-fleck retinopathy, which usually does not affect vision at all. A rarer finding involves changes to the clear front surface of the eye, the cornea.

Doctors typically suspect Alport syndrome when persistent microscopic blood in the urine is found together with a family history of kidney disease, hearing loss at a young age, or the characteristic eye findings. Confirming the diagnosis today relies mainly on genetic testing that reads all three relevant genes at once, since this can identify the exact variant, clarify the inheritance pattern for the family, and often avoid the need for more invasive testing. When genetic testing is inconclusive, a kidney biopsy can support the diagnosis: a small tissue sample is examined under a specialized microscope, and specific staining techniques can show whether the normal collagen network is missing from the basement membrane.

[Author]

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