Urinary excretion of desmosine (elastin cross-links) in subjects with PiZZ alpha-1-antitrypsin deficiency, a phenotype associated with hereditary predisposition to pulmonary emphysema.
Urinary excretion of desmosine (elastin cross-links) in subjects with PiZZ alpha-1-antitrypsin deficiency, a phenotype associated with hereditary predisposition to pulmonary emphysema.
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PiZZ α-1-抗胰蛋白酶缺乏症患者体内锁链素（弹性蛋白交联）的尿液排泄，这是一种与肺气肿遗传倾向相关的表型。
DOI：
10.1164/arrd.1985.132.4.821
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发表时间：
1985
期刊：
影响因子：
--
通讯作者：
Janoff,A
中科院分区：
文献类型：
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作者：
Pelham,F;Wewers,M;Crystal,R;Buist,AS;Janoff,A
为了评估纯合子α-1-抗胰蛋白酶（AAT）缺乏者肺弹性蛋白降解加速的概念，我们制备了尿液的酸水解物，并使用锁链素的放射免疫测定法来测量这些人和对照组中这种弹性蛋白特异性交联的尿液浓度。本文比较了17例肺气肿合并AAT基因纯合子缺陷（PiZZ）患者、27例肺间质疾病（结节病16例，特发性肺纤维化5例，其他肺间质疾病6例）和26例健康人的锁链素排泄情况。所有组中均存在吸烟者和非吸烟者。尿锁链素浓度（μg/100 mg肌酐）在PiZZ患者中为2.35 ± 0.93，在间质性肺病患者中为2.49 ± 1.01，在健康对照受试者中为2.05 ± 0.54（p > 0.1，所有比较）。由于异常肺弹性蛋白溶解可能在AAT缺乏者出现肺气肿症状之前就已基本完成，我们还检测了6例无症状的纯合子AAT缺乏症（PiZZ）成人和5例PiZZ儿童。与年龄匹配的对照组受试者相比，两组受试者的尿锁链素（µg/100 mg肌酐）均未显著升高，尽管儿童（PiZZ和年龄匹配的对照组）的排泄量高于成人（6名无症状PiZZ成人，2.60 ± 0.91; 5名PiZZ儿童，3.27 ± 0.62; 10名对照组儿童，3.61 ± 0.62）。这些数据表明，病理性肺弹性蛋白溶解在PiZZ主题可能构成太小的一部分全身弹性蛋白营业额检测到这种方法。或者，肺弹性蛋白降解可能间歇性发生，而不是连续发生，因此当这些患者临床稳定时无法检测到。
To evaluate the concept that lung elastin degradation is accelerated in homozygous alpha-1-antitrypsin (AAT) deficient persons, we prepared acid hydrolysates of urine and used a radioimmunoassay for desmosine to measure urine concentrations of this elastin-specific cross-link in such persons and in control subjects. Excretion of desmosine in 17 homozygous AAT-deficient (PiZZ) patients with emphysema was compared with that in 27 patients with interstitial lung diseases (16 sarcoid, 5 idiopathic pulmonary fibrosis, 6 other interstitial lung diseases) and 26 healthy subjects. Both smokers and nonsmokers were present in all groups. Urinary desmosine concentration (µg/100 mg creatinine) was 2.35 ± 0.93 in the PiZZ patients, 2.49 ± 1.01 in those with interstitial lung disease, and 2.05 ± 0.54 in the healthy control subjects (p > 0.1, all comparisons). Because abnormal pulmonary elastolysis may be largely completed before symptoms of emphysema develop in AAT-deficient persons, we also tested 6 asymptomatic adults with homozygous AAT deficiency (PiZZ) and 5 PiZZ children. Urine desmosine (µg/100 mg creatinine) was not significantly elevated in either group compared with that in the age-matched control subjects, although children (PiZZ and age-matched controls) showed higher excretions than did adults (6 asymptomatic PiZZ adults, 2.60 ± 0.91; 5 PiZZ children, 3.27 ± 0.62; 10 control children, 3.61 ± 0.62). These data suggest that pathologic lung elastolysis in the PiZZ subject may constitute too small a fraction of total-body elastin turnover to be detected by this method. Alternatively, it is possible that lung elastin degradation may occur episodically rather than continuously and thus not be detectable when these patients are clinically stable.