Bertorini T E, Palmieri G M, Airozo D, Edwards N L, Fox I H
Pediatr Res. 1981 Dec;15(12):1478-82. doi: 10.1203/00006450-198112000-00004.
To investigate a possible disorder of adenine nucleotide turnover in Duchenne muscular dystrophy, we evaluated 15 patients with mild Duchenne muscular dystrophy, eight patients with severe muscular dystrophy, seven patients with other neuromuscular disorders, and eight patients with hypogammaglobulinemia but no muscle disease. The serum urate concentration was similar in all four groups. Base line urinary purine excretion was elevated in all patients with neuromuscular disease with values of 1.72 +/- 0.15, 2.37 +/- 0.22, 2.49 +/- 0.35, and 2.60 +/- 0.48 mumoles/100 ml glomerular filtration for control subjects, mild Duchenne muscular dystrophy, severe disease, and other neuromuscular diseases, respectively. Adenine nucleotide pool turnover was measured by labeling with [8-14C]adenine and then 5 days later administering intravenous fructose. Five-day cumulative mean radioactivity excretion was elevated in mild and severe Duchenne muscular dystrophy with excretion values of 11.4 +/- 0.7 and 11.5 +/- 1.1% of administered radioactivity, respectively, as compared to 9.0 +/- 0.9% of administered radioactivity for control subjects. After intravenous fructose infusion, patients with Duchenne muscular dystrophy had a less than normal rise in serum urate concentration, a normal increase of urinary urinary purine excretion, and a greater than normal elevation of urinary radioactivity excretion and urinary purine specific activity. Patients with other neuromuscular diseases had virtually no rise in plasma urate concentration, less than normal increase in urinary total purine excretion, and a greater than normal increase of urinary radioactivity excretion and urinary specific activity. These observations suggest that there is an increased rate of adenine nucleotide turnover in Duchenne muscular dystrophy. In patients with other neuromuscular disease an increased rate of adenine nucleotide turnover resembled the abnormality expected from a diminished adenine nucleotide pool.
为了研究杜兴氏肌营养不良症中腺嘌呤核苷酸周转可能存在的紊乱情况，我们评估了15例轻度杜兴氏肌营养不良症患者、8例重度肌营养不良症患者、7例患有其他神经肌肉疾病的患者以及8例患有低丙种球蛋白血症但无肌肉疾病的患者。四组患者的血清尿酸盐浓度相似。所有神经肌肉疾病患者的基线尿嘌呤排泄均升高，对照组、轻度杜兴氏肌营养不良症患者、重度疾病患者和其他神经肌肉疾病患者的尿嘌呤排泄值分别为1.72±0.15、2.37±0.22、2.49±0.35和2.60±0.48微摩尔/100毫升肾小球滤过率。通过用[8-14C]腺嘌呤标记，然后在5天后静脉注射果糖来测量腺嘌呤核苷酸池的周转。与对照组给予放射性的9.0±0.9%相比，轻度和重度杜兴氏肌营养不良症患者的5天累积平均放射性排泄升高，排泄值分别为给予放射性的11.4±0.7%和11.5±1.1%。静脉注射果糖后，杜兴氏肌营养不良症患者的血清尿酸盐浓度升高低于正常水平，尿嘌呤排泄正常增加，尿放射性排泄和尿嘌呤比活性升高高于正常水平。患有其他神经肌肉疾病的患者血浆尿酸盐浓度几乎没有升高，尿总嘌呤排泄增加低于正常水平，尿放射性排泄和尿比活性增加高于正常水平。这些观察结果表明，杜兴氏肌营养不良症中腺嘌呤核苷酸周转速率增加。在患有其他神经肌肉疾病的患者中，腺嘌呤核苷酸周转速率增加类似于腺嘌呤核苷酸池减少所预期的异常情况。
