FATAL CASE OF CONGENITAL ERYTHROPOIETIC PORPHYRIA IN A NEONATE WITH ACUTE HEMOLYSIS AND HEPATIC-FAILURE

被引：20

作者：

DEVERNEUIL, H

MOREAUGAUDRY, F

GED, C

BENSIDHOUM, M

HOMBRADOS, I

TRICOIRE, J

ROLLAND, M

机构：

[1] CHR PELLEGRIN,UNITE FONCTIONNELLE BIOL MOLEC HOSP,F-33000 BORDEAUX,FRANCE

[2] HOP PURPAN,SERV MED INFANTILE B,F-31000 TOULOUSE,FRANCE

来源：

ARCHIVES DE PEDIATRIE | 1995年 / 2卷 / 08期

关键词：

PORPHYRIA; MOLECULAR BIOLOGY; HYDRO-LYASES; CHILD;

D O I：

10.1016/0929-693X(96)81246-2

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Background - Congenital erythropoietic porphyria, an autosomal recessive disease, is characterized by deficiency of uroporphyrinogen III synthase. Clinical variability of the disease is related to the different mutations found in the patients. Case report. - A newborn suffered one hour after birth from jaundice and polypnea with acute hemolysis. Severe cutaneous photosensitivity occurred after phototherapy.

引用

页码：755 / 761

页数：7

共 30 条

[1] HUMAN GENE-THERAPY [J].