AI Article Synopsis
- Congenital erythropoietic porphyria (CEP) is a rare genetic condition caused by a deficiency in the enzyme uroporphyrinogen III synthase (UROS), leading to harmful porphyrin accumulation in various body tissues.
- This accumulation results in severe symptoms like photosensitivity, hemolysis, and potential long-term physical deformities.
- A young girl was diagnosed with CEP through early genetic testing and successfully treated with hematopoietic stem cell transplantation at just 3 months old, marking the earliest known intervention for this condition.
Article Abstract
Congenital erythropoietic porphyria (CEP), a rare form of porphyria, is caused by a defect in the heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase (UROS). Uroporphyrinogen III synthase deficiency leads to an accumulation of nonphysiological porphyrins in bone marrow, red blood cells, skin, bones, teeth, and spleen. Consequently, the exposure to sunlight causes severe photosensitivity, long-term intravascular hemolysis, and eventually, irreversible mutilating deformities. Several supportive therapies such as strict sun avoidance, physical sunblocks, red blood cells transfusions, hydroxyurea, and splenectomy are commonly used in the management of CEP. Currently, the only available curative treatment of CEP is hematopoietic stem cell transplantation (HSCT). In this article, we present a young girl in which precocious genetic testing enabled early diagnosis and allowed curative treatment with HSCT for CEP at the age of 3 months of age, that is, the youngest reported case thus far.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10170564 | PMC |
| http://dx.doi.org/10.1177/00099228221128661 | DOI Listing |
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