Renal sonography in long standing Lesch-Nyhan syndrome.

Abstract:

:The Lesch-Nyhan syndrome is an x-linked defect of purine metabolism resulting in its classical form in major neurodevelopmental abnormality, hyperuricaemia, and hyperuricosuria. Uric acid calculi and crystalluria are common. Allopurinol is the main method of reducing serum and urinary uric acid levels, but results in xanthinuria and oxypurinoluria, both of which may cause crystal nephropathy and calculi. The variable ultrasonic appearances of multiple calculi and increased medullary echogenicity in four cases of long-standing treated disease and the nature of the renal disorder, which is at least partially iatrogenic, are described.

journal_name

Clin Radiol

journal_title

Clinical radiology

authors

Kenney IJ

doi

10.1016/s0009-9260(05)80352-6

subject

Has Abstract

pub_date

1991-01-01 00:00:00

pages

39-41

issue

1

eissn

0009-9260

issn

1365-229X

journal_volume

43

pub_type

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