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A 35 year old man comes to physician with progressively worsening chronic kidney disease. He describes pain and tingling of his hands and feet that began during his early adolescence. His BP is 150/90 and rest of vitals are normal. Physical exam shows multiple dark red macules of variable size over his lower abdo, buttocks and upper thighs. Remainder of hsi physical exam shows no abnormalities. Labs show BN of 30, Serum creatinine of 3.0 and urinalysis with 2+ protein and trace blood. Urinary oval fat bodies with a maltese cross configuration are seen with polarizing microscopy. These fat bodies contain globotriaosylceramide. 1. What is your diagnosis and why? 2. What hereditary enzyme deficiency is responsible for this disease?

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The General Principles section of the USMLE covers these topics:
Biochemistry
Genetics
Microbiology
Pathology
Pharmacology


1. A 35 year old man comes to physician with progressively worsening chronic kidney disease. He describes pain and tingling of his hands and feet that began during his early adolescence. His BP is 150/90 and rest of vitals are normal. Physical exam shows multiple dark red macules of variable size over his lower abdo, buttocks and upper thighs. Remainder of hsi physical exam shows no abnormalities. Labs show BN of 30, Serum creatinine of 3.0 and urinalysis with 2+ protein and trace blood. Urinary oval fat bodies with a maltese cross configuration are seen with polarizing microscopy. These fat bodies contain globotriaosylceramide. 1. What is your diagnosis and why? 2. What hereditary enzyme deficiency is responsible for this disease?





 
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