28-year-old man presents to the ER with a large amount of blood and protein in his urine. He has had a sensorineural hearing loss since his teen years and has misshaped lenses (anterior lenticonus). The physician is suspicious of a genetic disorder that may lead to eventual kidney failure. If this is the case, the patient most likely has a mutation in which one of the following proteins?
Question
28-year-old man presents to the ER with a large amount of blood and protein in his urine. He has had a sensorineural hearing loss since his teen years and has misshaped lenses (anterior lenticonus). The physician is suspicious of a genetic disorder that may lead to eventual kidney failure. If this is the case, the patient most likely has a mutation in which one of the following proteins?
Solution
The patient's symptoms suggest a diagnosis of Alport Syndrome, a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. This condition is caused by mutations in the genes that provide instructions for making a group of proteins known as type IV collagen. This protein plays a crucial role in the structure and function of glomeruli, which are tiny clusters of looping blood vessels in the kidneys.
Therefore, the patient most likely has a mutation in one of the following proteins: COL4A3, COL4A4, or COL4A5, which are all type IV collagen proteins. These proteins are essential for the normal structure of tissues in the kidney, inner ear, and eye, and for the normal function of these tissues. Mutations in these genes interfere with the production or assembly of the type IV collagen network, which leads to the signs and symptoms of Alport syndrome.
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