PURINE METABOLISM IN LESCH-NYHAN SYNDROME VERSUS KELLEY-SEEGMILLER SYNDROME
PURINE METABOLISM IN LESCH-NYHAN SYNDROME VERSUS KELLEY-SEEGMILLER SYNDROME
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DOI：
10.1007/bf00735419
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发表时间：
1994-01-01
影响因子：
4.2
通讯作者：
PUIG, JG
中科院分区：
文献类型：
--
作者：
MATEOS, FA;PUIG, JG
结果Lesch-Nyhan综合征患者红细胞HPRT活性范围为0.14 ~ 0.01nmol/h/mg Hb（正常HPRT活性为87.0 ± 16.5nmol/h/mg Hb）。在Kelley-Seegmiller综合征患者中，HPRT活性范围为0.28至小于0.01 nmol/h/mg Hb。相反，发现所有患者的红细胞APRT活性均升高（范围为45-141 nmol/mg Hb;正常APRT活性为28.1 ± 6.9 nmol/h/mg Hb），Lesch-Nyhan综合征患者与Kelley-Seegmiller综合征患者之间无显著差异。与正常受试者和原发性痛风患者相比，Lesch-Nyhan综合征和Kelley-Seegmiller综合征患者的血浆次黄嘌呤、黄嘌呤和尿酸浓度显著升高（表1）。两个HPRT缺陷组的血浆嘌呤水平也相似地升高。与对照值和原发性痛风患者相比，HPRT缺乏症患者的平均尿次黄嘌呤、黄嘌呤和尿酸浓度增加4倍至10倍（p< 0.01）。尿嘌呤在Lesch-Nyhan综合征和Kelley-Seegmiller综合征患者中升高相似。次黄嘌呤和尿酸的肾排泄量与年龄呈负相关（r= 0.569和r= 0.610; p< 0.01）。[8- 14 C]腺嘌呤输注后的尿放射性在酶缺乏患者中为给药剂量的18.9 ± 4.6%，在10例患者中为5.0 ± 1.3%。
RESULTS Erythrocyte HPRT activity ranged from 0.14 to less than 0.01 nmol/h per mg Hb (normal HPRT activity, 87.0+ 16.5 nmol/h per mg Hb) in patients with Lesch-Nyhan syndrome. In patients with Kelley-Seegmiller syndrome, HPRT activity ranged from 0.28 to less than 0.01 nmol/h per mg Hb. In contrast, erythrocyte APRT activity was found to be increased in all patients (range 45-141 nmol/per mg Hb; normal APRT activity, 28.1+ 6.9 nmol/h per mg Hb) with no significant differences between patients with Lesch-Nyhan syndrome and those with Kelley-Seegmiller syndrome. Plasma hypoxanthine, xanthine and uric acid concentrations were markedly elevated in patients with Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome as compared to normal subjects and patients with primary gout (Table 1). Plasma purines were similarly increased in both HPRT-deficient groups. Mean urinary hypoxanthine, xanthine and uric acid concentrations were 4-fold to 10-fold increased in patients with HPRT deficiency with respect to control values and patients with primary gout (p< 0.01). Urinary purines were similarly elevated in patients with Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome. The renal excretion of hypoxanthine and uric acid showed a negative correlation with the age of HPRT-deficient patients (r= 0.569 and r= 0.610, respectively; p< 0.01). Urinary radioactivity following [8-14C] adenine infusion was (mean+ SD) 18.9+ 4.6% of the administered radioactive dose in the enzyme-deficient patients and 5.0 _+ 1.3% in 10