Gucev, Zoran and Slavevska, Nevenka and Tasic, Velibor and Laban, Nevenka and Pop-Jordanova, Nada and Danilovski, Dragan and Woolf, Jacqueline and Cole, Duncan (2011) Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met). Indian J Hum Genet, 17 (2). pp. 104-107.
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Abstract
Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 14-year-old girl with red urine since infancy, progressive blistering and scarring of the skin, and moderate hemolytic anemia. After years of skin damage, her face is mutilated; she has a bald patch on the scalp, hypertrichosis of the neck, areas of skin darkening, and limited joint movements of the hands. Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. Sequencing of the UROS gene identified two mutations causing CEP (Cys73Arg, Thr228Met). The patient lesions are progressing. Bone marrow transplantation and/or gene therapy are proposed as the next steps in her treatment. In brief, we describe a CEP with confirmed two pathogenic mutations, severe phenotype and discuss the various treatment options available.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Congenital erythropoietic porphyria, mutation of the uroporphyrinogen III synthase gene, severe phenotypes, treatment |
| Subjects: | Medical and Health Sciences > Other medical sciences |
| Divisions: | Faculty of Medical Science |
| Depositing User: | Biljana Kosturanova |
| Date Deposited: | 15 Oct 2015 10:52 |
| Last Modified: | 15 Oct 2015 10:52 |
| URI: | https://eprints.ugd.edu.mk/id/eprint/13991 |
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