The presence of lysine, arginine, ornithine, and cysteine in the urine along with an autosomal recessive inheritance pattern and treatment involving urinary alkalinization and penicillamine strongly suggests Cystinuria.
Therefore, the answer is A. Cystine stones.
Cystinuria is a genetic disorder characterized by impaired reabsorption of cystine, ornithine, lysine, and arginine (COLA) in the renal tubules. This leads to the accumulation of cystine in the urine, which can form stones in the urinary tract. These cystine stones are often radiopaque and can be quite large, causing significant pain and potential obstruction. Treatment includes measures to increase urine pH (urinary alkalinization) and the use of medications like penicillamine to chelate and reduce cystine excretion.
B. Calcium Oxalate Stones: Calcium oxalate stones are one of the most common types of kidney stones. They are not associated with the presence of lysine, arginine, ornithine, and cysteine in the urine. These stones may form due to factors such as high dietary intake of oxalate or certain medical conditions, but they are not related to cystinuria.
C. Uric Acid Stones: Uric acid stones result from the precipitation of uric acid in the urine. They are associated with conditions like gout and are not related to the presence of lysine, arginine, ornithine, and cysteine in the urine, which are indicative of cystinuria.
D. Triple Phosphate (Struvite) Stones: Triple phosphate stones are composed of magnesium ammonium phosphate and are often associated with urinary tract infections. They are not related to the amino acids mentioned in the question.
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