Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease
Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease
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DOI：
10.1016/j.jpeds.2006.08.016
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发表时间：
2006-11-01
影响因子：
5.1
通讯作者：
Saudubray, Jean-Marie
中科院分区：
文献类型：
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作者：
Valayannopoulos, Vassili;Verhoeven, Nanda M.;Saudubray, Jean-Marie
转醛醇酶（TALDO）缺乏症是一种新认识的代谢性疾病，迄今为止已报道 2 例肝功能衰竭和肝硬化患者患有该病。我们报告了由同一近亲父母所生的 4 名婴儿的新同胞关系；所有这些都在出生时或产前出现畸形特征、皮肤松弛和多毛症、肝肿大、脾肿大、肝功能衰竭、溶血性贫血、血小板减少和泌尿生殖畸形。临床过程各不相同：第一个孩子在 4 个月大时死于肝衰竭；第一个孩子在 4 个月大时死于肝衰竭；第二次妊娠在妊娠 28 周时因胎儿水肿伴羊水过少而被终止妊娠。第三个孩子 7 岁时状况良好，但患有肝纤维化和轻度肾衰竭。老四现21个月大，肝脾肿大，轻度贫血，血小板减少。多元醇的尿液评估显示赤藓糖醇、阿拉伯糖醇和核糖醇升高，与 TALDO 缺乏一致。患者组织中未检测到TALDO活性，4例患者中发现TALDO1基因突变。
Transaldolase (TALDO) deficiency is a newly recognized metabolic disease, which has been reported so far in 2 patients presenting with liver failure and cirrhosis. We report a new sibship of 4 infants born to the same consanguineous parents; all presented at birth or in the antenatal period with dysmorphic features, cutis laxa and hypertrichosis, hepatomegaly, splenomegaly, liver failure, hemolytic anemia, thrombocytopenia, and genitourinary malformations. The clinical courses were variable: the first child died of liver failure at 4 months of age; the second pregnancy was medically terminated at 28 weeks gestation because of hydrops fetalis with oligohydramnios. The third child is doing well at age 7 with liver fibrosis and mild kidney failure. The fourth child is now 21 months old and has hepatosplenomegaly, mild anemia, and thrombocytopenia. Urine assessment of polyols showed elevations of erythritol, arabitol, and ribitol consistent with TALDO deficiency. TALDO activity was undetectable in the patients' tissues, and mutation in the TALDO1 gene was found in the 4 patients.