Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III
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尿羟基氧化戊二酸的系统评估用于原发性高草酸尿症 III 型的诊断和随访
DOI：
10.1007/s00467-017-3731-3
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发表时间：
2017
影响因子：
3
通讯作者：
B. Hoppe
中科院分区：
文献类型：
--
作者：
A. Ventzke;M. Feldkötter;A. Wei;J. Becker;B. Beck;B. Hoppe
目前有三种不同的常染色体隐性遗传型原发性高草酸血症（PH: PHI， PHII和PHIII），均以内源性草酸过量为特征。仅凭临床特征很难区分PH类型。除了所有高草酸尿亚型的普遍特征外，还可以检测到特定的尿液代谢物：PHI中的乙醇酸，PHII中的l -甘油酸和PHIII中的羟基-氧-戊二酸（HOG）。PHIII被认为是最良性的形式，其特征是在生命早期严重复发性尿石症，随后在许多患者中出现临床缓解，但不是所有患者。我们检查了尿HOG （UHOG）排泄作为诊断标志物及其与PHIII临床病程进展的关系。方法采用离子色谱/质谱联用（IC/MS）对30例PHIII、68例PHI/II患者和79例非ph型高盐尿患者的尿液样本进行suhog分析。结果PHIII患者UHOG平均排泄量显著高于PHI/II患者和非ph患者（分别为51.6 μmol/1.73 m2/24 h, 6.61 μmol/1.73 m2/24 h, p<0.01）。结论UHOG排泄明显升高仅见于PHIII患者，与新诊断患者的羟基-氧-戊二酸醛缩酶（HOGA1）突变分析结果100%一致。然而，UHOG排泄与随访的临床病程无关，不能用于区分活动性结石患者和临床无事件随访的患者。
BackgroundThere are currently three distinct autosomal recessive inherited types of primary hyperoxaluria (PH: PHI, PHII, and PHIII), all characterized by the endogenous overproduction of oxalate. The PH type is difficult to differentiate by clinical features alone. In addition to universal general characteristics to all hyperoxaluria subtypes, specific urinary metabolites can be detected: glycolate in PHI, L-glyceric acid in PHII, and hydroxy-oxo-glutarate (HOG) in PHIII. PHIII is considered to be the most benign form and is characterized by severe recurrent urolithiasis in early life, followed by clinical remission in many, but not all patients. We examined urinary HOG (UHOG) excretion as a diagnostic marker and its correlation to progression of the clinical course of PHIII.MethodsUHOG was analyzed by combined ion chromatography/mass spectrometry (IC/MS) in urine samples from 30 PHIII and 68 PHI/II patients and 79 non-PH hyperoxaluria patients.ResultsMean UHOG excretion was significantly higher in patients with PHIII than in those with PHI/II and in non-PH patients(51.6 vs. 6.61 vs. 8.36 μmol/1.73 m2/24 h, respectively; p<0.01).ConclusionsSignificantly elevated UHOG excretion was exclusively seen in PHIII patients and showed a 100 % consensus with the results of hydroxy-oxo-glutarate aldolase (HOGA1) mutational analysis in newly diagnosed patients. However, UHOG excretion did not correlate with clinical course on follow-up and could not be used to discriminate between active stone formers and patients with a clinically uneventful follow-up.
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DOI：
10.2215/cjn.02810315
发表时间：
2016-01-01
影响因子：
9.8
作者：
Zhao, Fang;Bergstralh, Eric.;Milliner, Dawn S.
通讯作者：
Milliner, Dawn S.
影响因子：
19.6
作者：
Hoppe B;Beck BB;Milliner DS
通讯作者：
Milliner DS
DOI：
10.2215/cjn.02760311
发表时间：
2011-09-01
影响因子：
9.8
作者：
Monico, Carla G.;Rossetti, Sandro;Milliner, Dawn S.
通讯作者：
Milliner, Dawn S.
DOI：
10.1016/j.bbadis.2012.06.014
发表时间：
2012-10
影响因子：
6.2
作者：
Riedel, Travis J.;Knight, John;Murray, Michael S.;Milliner, Dawn S.;Holmes, Ross P.;Lowther, W. Todd
通讯作者：
Lowther, W. Todd
影响因子：
19.6
作者：
Knight, J.;Jiang, J.;Holmes, R. P.
通讯作者：
Holmes, R. P.