Congenital erythropoietic porphyria affecting two brothers

被引：0
作者：
Saval, AH
Tirado, AM
机构：
[1] Hosp Univ Virgen Macarena, Dept Dermatol, Seville 41009, Spain
[2] Hosp Infanta Elena, Dept Paediatry, Huelva, Spain
来源：
BRITISH JOURNAL OF DERMATOLOGY | 1999年 / 141卷 / 03期
关键词：
congenital erythropoietic porphyia; Gunther's disease; mutation detection; uroporphyrinogen III cosynthase;
D O I：
暂无
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
We report two brothers, aged 5 and 2 years, with typical features of congenital erythropoietic porphyria. The elder did not receive medical attention until the age of 2 years, even though his urine had been red almost from birth, and despite severe scarring of the hands and face. The younger brother suffered haemolysis at birth. The uroporphyrinogen III cosynthase (URO IIIS) enzyme activity of red blood cells was 2% and 1.2% in the brothers, and genetic studies showed two different mutations of the URO IIIS gene, C73R and P248Q. The latter is a recently described mutation.
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页码：547 / 550
页数：4
相关论文
共 24 条
[1]   REGIONAL ASSIGNMENT OF THE HUMAN UROPORPHYRINOGEN-III SYNTHASE (UROS) GENE TO CHROMOSOME 10Q25.2-]Q26.3 [J].
ASTRIN, KH ;
WARNER, CA ;
YOO, HW ;
GOODFELLOW, PJ ;
TSAI, SF ;
DESNICK, RJ .
HUMAN GENETICS, 1991, 87 (01) :18-22
[2]  
BOLGERT M, 1952, Bull Soc Fr Dermatol Syphiligr, V59, P233
[3]  
BOUDGHENESTAMBOULI O, 1992, ANN DERMATOL VENER, V119, P365
[4]   HETEROGENEITY OF MUTATIONS IN THE UROPORPHYRINOGEN-III SYNTHASE GENE IN CONGENITAL ERYTHROPOIETIC PORPHYRIA [J].
BOULECHFAR, S ;
DASILVA, V ;
DEYBACH, JC ;
NORDMANN, Y ;
GRANDCHAMP, B ;
DEVERNEUIL, H .
HUMAN GENETICS, 1992, 88 (03) :320-324
[5]  
DAROCHA T, 1971, S AFR MED J, V7, P231
[6]   FATAL CASE OF CONGENITAL ERYTHROPOIETIC PORPHYRIA IN A NEONATE WITH ACUTE HEMOLYSIS AND HEPATIC-FAILURE [J].
DEVERNEUIL, H ;
MOREAUGAUDRY, F ;
GED, C ;
BENSIDHOUM, M ;
HOMBRADOS, I ;
TRICOIRE, J ;
ROLLAND, M .
ARCHIVES DE PEDIATRIE, 1995, 2 (08) :755-761
[7]   A model of congenital erythropoietic porphyria for gene transfer in hematopoietic cells [J].
deVerneuil, H ;
MoreauGaudry, F ;
Ged, C .
TRANSFUSION CLINIQUE ET BIOLOGIQUE, 1997, 4 (03) :263-266
[8]  
DEYBACH JC, 1990, BLOOD, V75, P1763
[9]  
Fontanellas A, 1996, EUR J HUM GENET, V4, P274
[10]   Congenital erythropoietic porphyria [J].
Fritsch, C ;
Bolsen, K ;
Ruzicka, T ;
Goerz, G .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1997, 36 (04) :594-610
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