Lesch-Nyhan syndrome presenting as acute renal failure secondary to obstructive uropathy.
Lesch-Nyhan syndrome is a rare genetic disorder characterized by mental retardation, self-mutilation, choreoathetosis, and hyperuricemia. The disease is caused by a mutation in the hypoxanthine-guanine phosphoribosyltransferase gene and is transmitted as a sex-linked recessive disorder. Since hyperuricemia is the primary metabolic problem caused by a hypoxanthine-guanine phosphoribosyltransferase mutation, urologic evaluation and treatment is often necessary for children with this disease. We report a 3-year-old boy who presented with anuric renal failure secondary to bilateral obstructing uric acid calculi. The evaluation of T lymphocytes revealed a hypoxanthine-guanine phosphoribosyltransferase mutation consistent with Lesch-Nyhan syndrome. The diagnosis and urologic management of this disorder is discussed.
Ankem
M
M
Division of Urology, Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
Glazier
D B
DB
Barone
J G
JG
D058186:Acute Kidney Injury / Q000175:diagnosis*; D001002:Anuria / Q000175:diagnosis* / Q000209:etiology; D002675:Child, Preschool; D006801:Humans; D007669:Kidney Calculi / Q000150:complications / Q000175:diagnosis*; D007926:Lesch-Nyhan Syndrome / Q000097:blood / Q000175:diagnosis*; D008297:Male; D014527:Uric Acid / Q000097:blood
D014527:Uric Acid