Question

A 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?
(A) Spectrin
(B) α1-Antitrypsin
(C) Collagen
(D) Fibrillin
(E) β-Myosin heavy chain

Answer 1

The 28-year-old man likely has Alport syndrome, which is indicated by hematuria, proteinuria, sensorineural hearing loss, and misshapen lenses, and involves a genetic mutation in Collagen (option C).

Step-by-step explanation:

The patient described in the question is presenting with a constellation of symptoms that include hematuria (blood in urine), proteinuria (protein in urine), sensorineural hearing loss, and anterior lenticonus of the lenses, all of which are suggestive of Alport syndrome, a genetic disorder affecting collagen synthesis. Specifically, the protein mutation associated with this condition is in Collagen (option C). Alport syndrome is an inherited form of nephritis accompanied by hearing loss and eye anomalies, and it often leads to progressive renal failure.

This syndrome is typically caused by mutations in the genes encoding the alpha chains of type IV collagen, which is a crucial component of the glomerular basement membrane in the kidneys, as well as structures within the ear and eye. Since Alport syndrome can lead to kidney failure, managing blood pressure and proteinuria is important to slow the progression of the disease.