Division of Pediatric Nephrology, Department of Pediatrics, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany.
Northwestern University, Chicago, IL, USA.
Pediatr Nephrol. 2017 Dec;32(12):2263-2271. doi: 10.1007/s00467-017-3731-3. Epub 2017 Jul 15.
There 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 (U) excretion as a diagnostic marker and its correlation to progression of the clinical course of PHIII.
U 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.
Mean U 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 m/24 h, respectively; p<0.01).
Significantly elevated U 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, U 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.
目前有三种不同的常染色体隐性遗传原发性高草酸尿症（PH：PHI、PHII 和 PHIII），均表现为内源性草酸过度产生。仅通过临床特征难以区分 PH 类型。除了所有高草酸尿症亚型的普遍一般特征外，还可以检测到特定的尿代谢物：PHI 中的甘醇酸、PHII 中的 L-甘油酸和 PHIII 中的羟基-氧代-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反复发生尿路结石，随后许多（但不是所有）患者出现临床缓解。我们检查了尿 HOG（U）排泄作为诊断标志物及其与 PHIII 临床病程进展的相关性。
通过离子色谱/质谱（IC/MS）联合分析 30 例 PHIII 和 68 例 PHI/II 患者以及 79 例非 PH 高草酸尿症患者的尿样中的 U。
PHIII 患者的 U 排泄平均值明显高于 PHI/II 患者和非 PH 患者（分别为 51.6、6.61 和 8.36 μmol/1.73 m/24 h；p<0.01）。
仅在 PHIII 患者中观察到 U 排泄显著升高，并且与新诊断患者的羟基-氧代-戊二酸醛缩酶（HOGA1）突变分析结果完全一致。然而，U 排泄与随访中的临床病程无关，也不能用于区分活动结石形成者和临床无事件随访者。
