医学
泌尿系统
托吡酯
内科学
内分泌学
甲状旁腺激素
甲状旁腺功能亢进
骨量减少
肾功能
成纤维细胞生长因子23
骨质疏松症
儿科
生理学
生物信息学
骨矿物
钙
精神科
生物
癫痫
作者
Hithem Fargaly,Shobi Mathew,Noreen F. Rossi
出处
期刊:Case Reports
[BMJ]
日期:2022-03-01
卷期号:15 (3): e246252-e246252
标识
DOI:10.1136/bcr-2021-246252
摘要
Isolated hyperglycinuria is a rare disorder that is associated with osteoporosis and renal calculi. We report findings in a middle-aged, black woman who presented for renal function evaluation with a history of transient hypobicarbonataemia associated with topiramate therapy. She displayed the full triad of high urinary glycine, early-onset osteopenia despite normal reproductive hormones, and renal calculus with high urinary oxalate, phosphate and uric acid. Parathyroid hormone and fibroblast growth factor 23 were both normal. Formal genetic testing did not reveal mutations in SLC6A20, SLC6A18, SLC6A19, SLC36A2, the known genes associated with glycinuria; however, black individuals are poorly represented in the genetic databases. It may well be that otherwise unidentified mutations may be present or that topiramate may result in a lingering proximal tubule defect even after cessation of the drug.
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