BONE-MARROW TRANSPLANTATION FOR CONGENITAL ERYTHROPOIETIC PORPHYRIA

被引：73

作者：

KAUFFMAN, L

EVANS, DIK

STEVENS, RF

WEINKOVE, C

机构：

[1] ROYAL MANCHESTER CHILDRENS HOSP,DEPT HAEMATOL,MANCHESTER M27 1HA,LANCS,ENGLAND

[2] ROYAL MANCHESTER CHILDRENS HOSP,BONE MARROW TRANSPLANT UNIT,MANCHESTER M27 1HA,LANCS,ENGLAND

[3] HOPE HOSP,DEPT MED CLIN BIOCHEM,SALFORD M6 8HD,LANCS,ENGLAND

来源：

LANCET | 1991年 / 337卷 / 8756期

关键词：

D O I：

10.1016/0140-6736(91)93198-I

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Congenital erythropoietic porphyria, a disorder of haem synthesis, is caused by uroporphyrinogen III synthase deficiency in bone-marrow normoblasts. Uroporphyrins and coproporphyrins accumulate and cause oxidative damage to cells exposed to sunlight. Uroporphyrin overproduction was greatly reduced and skin changes reversed in a girl who received a bone-marrow graft from an HLA-identical sibling at 10 years of age. The patient died 11 months after transplantation because of severe progressive pneumonitis and encephalopathy associated with cytomegalovirus infection, but the encouraging response up to 8 months after engraftment indicates a possible benefit of bone-marrow transplantation in the treatment of this rare but usually fatal inherited disease.

引用

页码：1510 / 1511

页数：2

共 6 条

[1]

BARRANGER JA, 1984, NEW ENGL J MED, V331, P1629

[2]

DEYBACH JC, 1990, BLOOD, V75, P1763

[3]

LIM CK, 1984, CLIN CHIM ACTA, V139, P35

[4] HEMATIN THERAPY IN LATE ONSET CONGENITAL ERYTHROPOIETIC PORPHYRIA [J].