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遗传性代谢疾病、肝脏疾病、肿瘤、囊性纤维化和乳糜泻患儿继发性胱硫醚尿症的发生情况。

Occurrence of secondary cystathioninuria in children with inherited metabolic disorders, liver diseases, neoplasms, cystic fibrosis and celiac disease.

作者信息

Endres W, Wuttge B

出版信息

Eur J Pediatr. 1978 Aug 17;129(1):29-35. doi: 10.1007/BF00441371.

DOI:10.1007/BF00441371
PMID:210019
Abstract

Secondary cystathioninuria was found in two of 46 children suffering from tumors, leukemia, liver disease, inherited metabolic disorders, cystic fibrosis and celiac disease. Of these two patients, one had congenital biliary atresia and the other cytomegalovirus infection. Seven further children had only moderately elevated excretion of cystathionine. It is suggested that secondary cystathioninuria is uncommon in the disease investigated.

摘要

在46名患有肿瘤、白血病、肝病、遗传性代谢紊乱、囊性纤维化和乳糜泻的儿童中，发现2例继发性胱硫醚尿症。这两名患者中，一名患有先天性胆道闭锁，另一名患有巨细胞病毒感染。另外7名儿童的胱硫醚排泄量仅略有升高。提示继发性胱硫醚尿症在所研究的疾病中并不常见。

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Occurrence of secondary cystathioninuria in children with inherited metabolic disorders, liver diseases, neoplasms, cystic fibrosis and celiac disease.遗传性代谢疾病、肝脏疾病、肿瘤、囊性纤维化和乳糜泻患儿继发性胱硫醚尿症的发生情况。
Eur J Pediatr. 1978 Aug 17;129(1):29-35. doi: 10.1007/BF00441371.
2
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3
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引用本文的文献

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Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).胱硫醚γ-裂合酶（CTH）的多个突变揭示了胱硫醚尿症（MIM 219500）的基因组基础。
Hum Genet. 2003 Apr;112(4):404-8. doi: 10.1007/s00439-003-0906-8. Epub 2003 Feb 6.

本文引用的文献

1
CYSTATHIONINURIA AND VANIL-LACTIC-ACIDURIA IN NEUROBLASTOMA AND ARGENTAFFINOMA.神经母细胞瘤和嗜银细胞瘤中的胱硫醚尿症和香草乳酸尿症。
Lancet. 1963 Dec 14;2(7320):1281-2. doi: 10.1016/s0140-6736(63)90932-2.
2
The vitamin B6 deficiency syndrome in human infancy: biochemical and clinical observations.人类婴儿期维生素B6缺乏综合征：生化与临床观察
Pediatrics. 1963 Feb;31:240-50.
3
Cystathioninuria in galactosemia and certain types of liver disease.半乳糖血症和某些类型肝病中的胱硫醚尿症。
Pediatrics. 1967 Nov;40(5):828-33.
4
Cystathioninuria in children with neuroblastoma with and without metastasis.有或无转移的神经母细胞瘤患儿的胱硫醚尿症
Acta Paediatr Scand. 1970 Jan;59(1):80-2. doi: 10.1111/j.1651-2227.1970.tb15518.x.
5
Secondary cystathioninuria.继发性胱硫醚尿症
Acta Paediatr Scand. 1969 Mar;58(2):173-7. doi: 10.1111/j.1651-2227.1969.tb04703.x.
6
Cystathioninuria in patients with neuroblastoma or ganglioneuroblastoma. Its correlation to vanilmandelic acid excretion and its value in diagnosis and therapy.神经母细胞瘤或神经节神经母细胞瘤患者的胱硫醚尿症。其与香草扁桃酸排泄的相关性及其在诊断和治疗中的价值。
Cancer. 1968 Oct;22(4):856-60. doi: 10.1002/1097-0142(196810)22:4<856::aid-cncr2820220424>3.0.co;2-1.
7
[Secondary cystathioninuria].继发性胱硫醚尿症
Z Kinderheilkd. 1971;110(1):46-58.
8
Cystathioninuria in hepatoblastoma.肝母细胞瘤中的胱硫醚尿症。
Clin Chim Acta. 1968 Nov;22(3):373-8. doi: 10.1016/0009-8981(68)90038-7.
9
Cystathioninuria.胱硫醚尿症
Am J Dis Child. 1967 Jan;113(1):119-28. doi: 10.1001/archpedi.1967.02090160169027.
10
Cystathioninuria in hepatoblastoma.肝母细胞瘤中的胱硫醚尿症
Scand J Clin Lab Invest. 1965;17(5):513-4.