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Medicine General 0271962f

All of the following type of renal stones are seen in females, EXCEPT:

A
Stones associated with Idiopathic hypercalciuria
B
Renal stones in Distal renal tubular acidosis
C
Renal stones in Primary hyperoxaluria
D
Renal stones in Lesch-Nyhan syndrome
High-Yield Explanation
The HP gene is located on the X chromosome. Affected males are hemizygous for the mutant gene; carrier females are asymptomatic. A complete deficiency of HP, the Lesch-Nyhan syndrome, is characterized by hyperuricemia, self-mutilative behavior, choreoathetosis, spasticity, and mental retardation. A paial deficiency of HP, the Kelley-Seegmiller syndrome, is associated with hyperuricemia but no central nervous system manifestations. In both disorders, the hyperuricemia results from urate overproduction and can cause uric acid crystalluria, nephrolithiasis, obstructive uropathy, and gouty ahritis. Early diagnosis and appropriate therapy with allopurinol is needed. Ref: Harrisons Principles of Medicine, 18th Edition, Page 3185 See the Table 287-1 in 18th edition Harrison, Page 2383

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