Nephrological abnormalities in patients with transaldolase deficiency
Nephrological abnormalities in patients with transaldolase deficiency
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DOI：
10.1093/ndt/gfs061
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发表时间：
2012-08-01
影响因子：
6.1
通讯作者：
Bokenkamp, Arend
中科院分区：
文献类型：
--
作者：
Loeffen, Yvette G. T.;Biebuyck, Nathalie;Bokenkamp, Arend
背景。转醛醇酶缺乏症 (OMIM 606003) 是一种多系统疾病，于 2001 年首次被描述。转醛醇酶是戊糖磷酸途径可逆部分的酶。受影响的患者体液中多元醇浓度异常，主要是尿液中。临床表现多种多样。主要症状是凝血障碍、血小板减少、肝脾肿大、肝纤维化和畸形特征。我们研究的目的是尝试表征转醛醇酶缺乏症患者的肾脏表型。方法。通过回顾性图表分析收集了目前已知的所有九名转醛醇酶缺乏症患者的临床和实验室数据。结果。九名患者中有七名出现肾病异常。最常见的发现是低分子量（LMW）蛋白尿和高钙尿。两名年龄最大的患者患有中度慢性肾衰竭。两名患者出现全身性氨基酸尿，两名患者出现肾磷酸盐消耗，三名患者出现高氯性代谢性酸中毒。三名患者存在解剖异常。结论。大多数转醛醇酶缺乏症患者存在肾小管功能障碍，并可能导致慢性肾功能衰竭。不明原因的肝功能障碍与 LMW 蛋白尿的结合应提示通过测量尿多元醇来代谢筛查转醛酶缺乏症。对于转醛酶缺乏的患者，必须监测肾功能。
Background. Transaldolase deficiency (OMIM 606003) is a multisystem disorder first described in 2001. Transaldolase is an enzyme of the reversible part of the pentose phosphate pathway. Affected patients have abnormal polyol concentrations in body fluids, mostly in urine. The clinical presentation is variable. The leading symptoms are coagulopathy, thrombocytopenia, hepatosplenomegaly, hepatic fibrosis and dysmorphic features. The objective of our study was to attempt to characterize the renal phenotype of patients with transaldolase deficiency.Methods. Clinical and laboratory data of all nine patients with transaldolase deficiency presently known were gathered by retrospective chart analysis.Results. Nephrological abnormalities were present in seven of the nine patients. The most common findings were low molecular weight (LMW) proteinuria and hypercalciuria. The two oldest patients had moderate chronic kidney failure. In two patients, generalized aminoaciduria was found, two patients had renal phosphate wasting and three patients had hyperchloremic metabolic acidosis. Three patients had anatomical abnormalities.Conclusions. Renal tubular dysfunction is present in the majority of patients with transaldolase deficiency and may lead to chronic renal failure. The combination of unexplained liver dysfunction with LMW proteinuria should prompt metabolic screening for transaldolase deficiency by measuring urinary polyols. In patients with transaldolase deficiency, monitoring of kidney function is mandatory.