Case Report on the Late Diagnosis of a Type of Lesch-Nyhan Disease

Abstract

A 30-year-old man was recommended for hyperuricaemia analysis and therapy. Recurrent nephrolithiasis and chronic gout were among the past medical conditions, and they did not respond well to treatment. The enzyme hypoxanthine-guanine phosphoribosyl transferase (HGPRT) was investigated for its activity and it was discovered to be inadequate, supporting the Lesch-Nyhan disease diagnosis with allopurinol, hyperuricemia was addressed. To prevent dehydration and achieve a minimum daily urine output of 2 L, the patient was given instructions to prevent nephrolithiasis. Potassium citrate was first used to alkalize the urine. For genetic counseling, the patient was recommended. The case presents information on the pathogenesis, clinical symptoms, genetics, diagnosis, and treatment of HGPRT deficiency.