莱施-奈恩综合征的一例尸检病例：肝脏中次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HGPRT）活性正常及各组织中的黄嘌呤结石
An autopsy case of the Lesch-Nyhan syndrome: normal HGPRT activity in liver and xanthine calculi in various tissues.
作者信息
Mizuno T, Endoh H, Konishi Y, Miyachi Y, Akoaka I
出版信息
Neuropadiatrie. 1976 Aug;7(3):351-5. doi: 10.1055/s-0028-1091635.
PMID:989165
Abstract
An autopsied case of the Lesch-Nyhan syndrome did not indicate the specific pathological features except delayed physical development. 2. Xanthine calculi caused by allopurinol administration scattered in the kidneys, brain, thymus, and thyroid glands, but its excretion into urine was not observed during his life. 3. Activities of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in various tissues indicate complete deficiency, but HGPRT in liver was normal.
摘要
- 一例莱施-奈恩综合征尸检病例除身体发育迟缓外未显示出特定病理特征。2. 因使用别嘌呤醇导致的黄嘌呤结石散在于肾脏、脑、胸腺和甲状腺中，但生前未观察到其经尿液排出。3. 各种组织中的次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HGPRT）活性显示完全缺乏，但肝脏中的HGPRT正常。
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