Blood, Vol. 92 No. 11 (December 1), 1998:
pp. 4053-4058
Congenital Erythropoietic Porphyria Successfully Treated by
Allogeneic Bone Marrow Transplantation
I. Tezcan,
W. Xu,
A. Gurgey,
M. Tuncer,
M. Cetin,
C. Öner,
S. Yetgin,
F. Ersoy,
G. Aizencang,
K.H. Astrin, and
R.J. Desnick
From the Department of Pediatric Immunology and Hematology, Hacettepe
University, Ankara, Turkey; and the Department of Human Genetics, Mount
Sinai School of Medicine, New York, NY.
The long-term biochemical and clinical effectiveness of
allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent 18-month-old female with congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of
heme biosynthesis resulting from mutations in the uroporphyrinogen III
synthase (URO-synthase) gene. Three years post-BMT, the recipient had
normal hemoglobin, markedly reduced urinary porphyrin excretion, and no
cutaneous lesions with unlimited exposure to sunlight. The patient was
homoallelic for a novel URO-synthase missense mutation, G188R, that
expressed less than 5% of mean normal activity in Escherichia
coli, consistent with her transfusion dependency. Because the
clinical severity of CEP is highly variable, ranging from nonimmune
hydrops fetalis to milder, later onset forms with only cutaneous
lesions, the importance of genotyping newly diagnosed infants to select
severely affected patients for BMT is emphasized. In addition, the
long-term effectiveness of BMT in this patient provides the rationale
for future hematopoietic stem cell gene therapy in severely affected
patients with CEP.
