Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria

被引：15

作者：

Faraci, Maura ^{[1
]}

Morreale, Giuseppe ^{[1
]}

Boeri, Elio ^{[1
]}

Lanino, Edoardo ^{[1
]}

Dallorso, Sandro ^{[1
]}

Dini, Giorgio ^{[1
]}

Scuderi, Francesca ^{[1
]}

Cohen, Amnon ^{[2
]}

Cappelli, Barbara ^{[3
]}

机构：

[1] G Gaslini Inst Children, Dept Hematol & Oncol, Bone Marrow Transplant Unit, Genoa, Italy

[2] San Paolo Hosp, Dept Pediat, Savona, Italy

[3] San Raphael Hosp, Bone Marrow Transplant Unit, Milan, Italy

来源：

PEDIATRIC TRANSPLANTATION | 2008年 / 12卷 / 01期

关键词：

congenital erythropoietic porphyria; hematopoietic stem cell transplantation; age at transplant; follow-up;

D O I：

10.1111/j.1399-3046.2007.00842.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

CEP is a rare inborn error of porphyrin-heme synthesis. Clinical manifestations can range from mild to severe and include erythrodontia, reddish-colored urine, and hemolytic anemia that can be mild or severe and may result in splenomegaly. Completely avoiding exposure to the sun is crucial. Attempts to reduce erythropoiesis and to lower circulating porphyrin levels by means of erythrocyte transfusions have been successful in reducing the expression of the disease. However, the complications of a chronic transfusion regimen are potentially severe. Successful bone marrow transplantation has been reported in CEP. We report a case of successful bone marrow transplantation and prolonged follow-up in an adolescent CEP patient.

引用

页码：117 / 120

页数：4

共 10 条

[1] Congenital erythropoietic porphyria: dilemmas in present day management [J].

Dawe, SA ;

Stephens, AD ;

Peters, TJ ;

du Vivier, A ;

Creamer, JD .

CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2002, 27 (08) :680-683

[2] Congenital erythropoietic porphyria: Advances in pathogenesis and treatment [J].

Dsnick, RJ ;

Astrin, KH .

BRITISH JOURNAL OF HAEMATOLOGY, 2002, 117 (04) :779-795

[3] Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Gunther disease) [J].

Dupuis-Girod, S ;

Akkari, V ;

Ged, C ;

Galambrun, C ;

Kebaïli, K ;

Deybach, JC ;

Claudy, A ;

Geburher, L ;

Philippe, N ;

de Verneuil, H ;

Bertrand, Y .

EUROPEAN JOURNAL OF PEDIATRICS, 2005, 164 (02) :104-107

[4] Testicular function after cytotoxic chemotherapy: Evidence of Leydig cell insufficiency [J].

Howell, SJ ;

Radford, JA ;

Ryder, WDJ ;

Shalet, SM .

JOURNAL OF CLINICAL ONCOLOGY, 1999, 17 (05) :1493-1498

[5] BONE-MARROW TRANSPLANTATION FOR CONGENITAL ERYTHROPOIETIC PORPHYRIA [J].

KAUFFMAN, L ;

EVANS, DIK ;

STEVENS, RF ;

WEINKOVE, C .

LANCET, 1991, 337 (8756) :1510-1511

[6]

Murphy Gillian M, 2003, Dermatol Ther, V16, P57, DOI 10.1046/j.1529-8019.2003.01609.x

[7] Modern diagnosis and management of the porphyrias [J].

Sassa, Shigeru .

BRITISH JOURNAL OF HAEMATOLOGY, 2006, 135 (03) :281-292

[8] Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature [J].

Shaw, PH ;

Mancini, AJ ;

McConnell, JP ;

Brown, D ;

Kletzel, M .

BONE MARROW TRANSPLANTATION, 2001, 27 (01) :101-105

[9] Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma [J].

Taibjee, S. M. ;

Stevenson, O. E. ;

Abdullah, A. ;

Tan, C. Y. ;

Darbyshire, P. ;

Moss, C. ;

Goodyear, H. ;

Heagerty, A. ;

Whatley, S. ;

Badminton, M. N. .

BRITISH JOURNAL OF DERMATOLOGY, 2007, 156 (03) :567-571

[10] Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation [J].

Tezcan, I ;

Xu, W ;

Gurgey, A ;

Tuncer, M ;

Cetin, M ;

Öner, C ;

Yetgin, S ;

Ersoy, F ;

Aizencang, G ;

Astrin, KH ;

Desnick, RJ .

BLOOD, 1998, 92 (11) :4053-4058

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