ABSTRACT
Deficiency of hypoxanthine-guanine phosphoribosyltransferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard to neurological features depending on the extent of the enzymatic deficiency. Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase, called Lesch-Nyhan syndrome, is presented with hyperuricemia and characteristic neurological manifestation and self-mutilation. Partial hypoxanthine-guanine phosphoribosyltransferase--deficient patients are presented with a various intensities of the aforementioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypoxanthine-guanine phosphoribosyltransferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.
Subject(s)
Humans , Arthritis, Gouty , Hyperuricemia , Hypoxanthine Phosphoribosyltransferase , Lesch-Nyhan Syndrome , Neurologic Manifestations , Uric AcidABSTRACT
Gouty arthritis is a metabolic disorder characterized by hyperuricemia, deposition of monosodium urate crystal in the joints, and recurrent episodes of acute inflammatory arthritis. Depending on the actual causes of hyperuricemia, gout is classified as primary or secondary gout. In myeloproliferative neoplasms, a turnover of nucleic acids is greatly augmented and therefore the blood concentration of uric acid may be markedly increased. But an acute attack of gout is extremely rare in patients with myeloproliferative neoplasms. Essential thrombocythemia, one of the myeloproliferative neoplasms, is characterized by megakaryocytic hyperplasia in bone marrow and marked thrombocytosis. We report a case of secondary gout in a 66-year-old man with essential thrombocythemia.