Saigal Renu, Chakraborty A, Yadav R N, Prashant R K
Department of Medicine, SMS Medical College, Jaipur.
J Assoc Physicians India. 2006 Jan;54:49-52.
Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We report a case of partial HPRT deficiency presenting as chronic tophaceous gout, mental retardation, nephrolithiasis and family history suggestive of X-linked inheritance, for its rarity.
次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）缺乏是一种嘌呤代谢的X连锁缺陷。临床表现通常与酶缺乏程度有关；完全性HPRT缺乏（莱施 - 奈恩综合征）表现为严重的神经或肾脏症状，或部分性HPRT缺乏（凯利 - 西格米勒综合征）表现为痛风 - 尿石症综合征。我们报告一例以慢性痛风石性痛风、智力发育迟缓、肾结石以及提示X连锁遗传的家族史为表现的部分性HPRT缺乏病例，因其罕见性。
