Question
A 24-year-old Caucasian male is being evaluated for skin lesions on his lower abdomen. A sample of his fibroblasts is obtained and cultured as part of the investigative work-up. The cultured fibroblasts fail to metabolize ceramide trihexoside. This patient is at greatest risk for developing which of the following:
| A. |
Renal failure
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| B. |
Hepatic Cirrhosis
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| C. |
Acute leukemia
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| D. |
Pulmonary emphysema
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Show Answer
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Correct Answer � A
Explanation
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|
Ans. A. Renal Failure
Explanation: This patient has Fabry disease (angiokeratoma corporis diffusum), which results from an inherited deficiency of alpha-galactosidase A. In patients with Fabry disease, the globoside ceramide trihexoside accumulates in tissues. The earliest disease manifestations are hypohidrosis, acroparesthesia and angiokeratomas. Acroparesthesia is episodic, often debilitating, burning neuropathic pain in the extremities. Angiokeratomas are punctuate, dark red, non-blanching macules and papules that classically occur between the umbilicus and the knees. Without enzyme replacement therapy, progressive renal insufficiency leading to renal failure and death may occur.
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