Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging
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DOI：
10.1023/b:boli.0000016621.29854.d6
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发表时间：
2004-01-01
影响因子：
4.2
通讯作者：
Saheki, T
中科院分区：
文献类型：
--
作者：
Nishimura, Y;Tajima, G;Saheki, T
本文对100例用Paigen法筛查的新生儿高半乳糖血症的病因进行讨论。高半乳糖血症94例为短暂性，6例为持续性。55例暂时性病例的病因不明，19例静脉导管延迟闭合，16例杂合性udp -半乳糖4- epimase （GALE）缺乏，6例杂合性半乳糖-1-磷酸尿苷转移酶（GALT）缺乏。持续病例的病因为肝血管内皮瘤伴门静脉分流2例，静脉导管未闭伴肝内门静脉发育不全、柠檬黄素缺乏、纯合子GALE缺乏和杂合子GALE缺乏各1例。门静脉系统的异常在初次会诊时通过超声检查确定，总胆汁酸和甲胎蛋白浓度的测定有助于鉴别诊断。高半乳糖血症的病因多种多样，但主要原因是门静脉分流。对高半乳糖血症患者的评估不应局限于酶分析，还应包括肝脏影像学检查，尤其是超声检查。此外，测定总胆汁酸和甲胎蛋白有助于确定婴儿高半乳糖血症的病因。
The aetiology of hypergalactosaemia in 100 neonates detected by screening using the Paigen method is discussed. Hypergalactosaemia was transient in 94 cases and persistent in 6. The aetiology among transient cases was unknown in 55, delayed closure of the ductus venosus in 19, heterozygous UDP-galactose 4-epimerase (GALE) deficiency in 16, and heterozygous galactose-1-phosphate uridyltransferase (GALT) deficiency in 6. The aetiology among persistent cases was hepatic haemangioendothelioma with portovenous shunting in 2, and patent ductus venosus with hypoplasia of the intrahepatic portal vein, citrin deficiency, homozygous GALE deficiency, and heterozygous GALE deficiency in one patient each. The abnormalities of the portal system were identified ultrasonographically at the initial consultation and measurements of the total bile acid and alpha-fetoprotein concentrations were helpful in resolving the differential diagnosis. The causes of hypergalactosaemia varied, but a major cause was portosystemic shunt. Evaluation of patients with hypergalactosaemia should not be limited to enzymatic analysis, but should also include hepatic imaging, especially ultrasonography. Additionally, determination of total bile acids and alpha-fetoprotein is helpful in identifying the aetiology of hypergalactosaemia in infants.