Abstract
The objective of this study was to review sequential renal sonograms of patients with Lesch-Nyhan syndrome obtained over several years to determine different sonographic patterns, the alterations in the patterns occurring over time and the relationship to management. Additional objectives were to evaluate the size of the kidneys, and to correlate the metabolic constituents of calculi with the therapeutic regimens and with the renal sonographic patterns. Serial sonograms of six patients with Lesch-Nyhan syndrome were reviewed for periods varying between 2 and 7 years with a mean of 4 years. The ages of the patients at the conclusion of the study were between 10 and 22 years. Three patterns of abnormal echogenicity were found; a punctate increase in echogenicity in the renal medullary pyramids, a diffuse increase in medullary pyramid echogenicity, and a pattern of increased echogenicity in the collecting system. These patterns were progressive but did not alternate on sequential scans, regardless of increasing or constant therapy. Analysis of calculi suggested patients were precipitating various metabolites concurrently; the incidence of metabolites appeared to be unrelated to therapy. Those patients with shadowing opacities, whether in the renal medulla or collecting system, were more likely to develop renal colic. Renal dimensions were small with renal function remaining normal.
Published Version
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