Скачать с ютуб Lesch-Nyhan syndrome - Usmle step 1 Biochemistry Case Based discussion в хорошем качестве

Lesch-Nyhan syndrome - Usmle step 1 Biochemistry Case Based discussion

📌 𝐅𝐨𝐥𝐥𝐨𝐰 𝐨𝐧 𝐈𝐧𝐬𝐭𝐚𝐠𝐫𝐚𝐦:-   / drgbhanuprakash   📌𝗝𝗼𝗶𝗻 𝗢𝘂𝗿 𝗧𝗲𝗹𝗲𝗴𝗿𝗮𝗺 𝗖𝗵𝗮𝗻𝗻𝗲𝗹 𝗛𝗲𝗿𝗲:- https://t.me/bhanuprakashdr 📌𝗦𝘂𝗯𝘀𝗰𝗿𝗶𝗯𝗲 𝗧𝗼 𝗠𝘆 𝗠𝗮𝗶𝗹𝗶𝗻𝗴 𝗟𝗶𝘀𝘁:- https://linktr.ee/DrGBhanuprakash Lesch-Nyhan syndrome, also known as juvenile gout, is a rare X-linked disorder of purine metabolism that affects multiple organ systems. The defective enzyme is hypoxanthine-guanine phosphoribosyltransferase HGPRT. Patients develop primary hyperuricemia from oversynthesis of uric acid. Males are more commonly affected than females. Phenotype is largely dependent on degree of enzyme deficiency; those most affected have the classic triad of dystonia, spasticity, and self-injurious behavior. Self-mutilating behavior, particularly biting, is distinctive; fingers and lips are common targets. Renal complications develop first, within the first several months of life. Cutaneous findings can mimic gout, with painful inflammation of joints and multiple tophi. Poor muscle control and developmental delay can be noticed in the first year of life. During the second year, self-mutilating behavior including lip and finger biting can be noticed. Look For General – poor weight gain, small stature Renal – nephrolithiasis, crystalluria Neurologic – dysarthria, intellectual handicap, dystonia, spasticity, self-injurious behavior Cutaneous – painful joints; soft compressible nodules located near joints, including great toe and interphalangeal joints of the hand; self-mutilation, especially biting Special Considerations in Infants: Orange to yellow accumulations of crystalline material in diapers in the first few months of life. Diagnostic Pearls ---------------------------- Most patients affected with Lesch-Nyhan have self-injurious behavior, which, in combination with common neurologic symptoms and hyperuricemia, leaves few other diagnostic possibilities.