Erythropoietic porphyria (EP) is a rare inborn error of porphyrin-heme synthesis inherited that is as an autosomal recessive trait. Congenital erythropoietic porphyria (CEP; OMIM #, also called Günther disease) is a rare, autosomal recessive porphyria. It results from. Gunther disease, also known as congenital erythropoietic porphyria (CEP), uroporphyrinogen III synthase deficiency and UROS deficiency, is a congenital form.
|Published (Last):||14 November 2012|
|PDF File Size:||18.33 Mb|
|ePub File Size:||11.3 Mb|
|Price:||Free* [*Free Regsitration Required]|
Years Published,, Of note, although some of the first individuals with CEP to successfully undergo BMT in childhood should be in their 20s now [ Thomas et alZix-Kieffer et al ], no erythropoieyic information is available and the long-term outcome in individuals with CEP post-BMT is unknown.
Secondary splenomegaly may develop as a consequence of hemolytic anemia. Secondary infections with scarring and bone resorption photomutilation may lead to deformity and disfigurement of fingers, toes, and facial features including the nose, ears, and eyelids.
Heterozygotes carriers are asymptomatic. Sun protection using protective clothing including long sleeves, gloves, and wide-brimmed hats.
The authors pointed out that the usefulness of charcoal therapy in photocutaneous porphyrias other than this form and in reversing the congenitak lesion in patients with protoporphyric liver disease remains to be explored. Individuals with CEP will benefit from window tinting or using vinyls congenitxl films cobgenital cover the windows in their car or house.
What other treatments are available for CEP? Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified.
congeenital Pathogenic variants in this gene are also observed in:. These infected lesions can lead to scarring, bone loss, and deformities. Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and congeniatl lymphoblasts: Offspring of a proband. Genotype-Phenotype Correlations The genotype-phenotype correlations that have been established in CEP are largely determined by the amount of residual enzyme activity encoded by the specific mutated alleles.
Uroporphyrinogen III cosynthetase is expressed in cultured amniotic cells so that prenatal diagnosis is possible Deybach et al. Bisphosphonates can be considered in individuals with osteoporosis [ Katugampola et al a ].
Congenital erythropoietic porphyria (CEP)
As it is so rare, the exact number of people affected by CEP is not clear. We need long-term secure funding to provide you the information that you need at your fingertips. Accessed May 25, Bone involvement is constant, with rarefaction of bony architecture and a risk of multiple fractures. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. One patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene In a patient with Gunther disease, Deybach et al.
Comparisons may be useful for a differential diagnosis:.
Gunther disease – Wikipedia
The acute porphyrias are characterized by the acute-onset of erythrooietic attacks especially abdominal pain, hypertension, etc. Most give details about all the forms of porphyria. The anemia can be severe and such patients require periodic transformations to maintain sufficient red blood cells.
Cabrol pogphyria December Usually manifests in adulthood Distinct biochemical porphyrin profile. During the next 2 years transfusions were required because of hemolysis. The principle signs include cutaneous lesions that are bullous and rapidly erosive on the surface of skin exposed to the sun and light hands, face, feet.
Pages with DOIs inactive since Infobox medical condition new Articles to be expanded from February All articles to be expanded Articles with empty sections from February All articles with empty sections Articles using small message boxes. Ocular problems also can occur including corneal scarring, eye inflammation, and infections.
Adult-Onset Form Deybach et al. Bullae and vesicles are filled with serous fluid and are prone to rupture. Since its description at the end of the 19th century, erytbropoietic cases have been reported in the literature.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. In the patient reported by Murphy et al.
D ICD – Urine and erythrocyte porphyrins can be determined periodically after bone marrow transplant as a monitor of engraftment. Iron deficiency induced by treatment lorphyria deferasirox improved photosensitivity and hemolysis in one patient [ Egan at al ]. Pink to dark red discoloration of the urine pink or dark red urine-stained diapers are often the first sign in infants.
National Center for Biotechnology InformationU. The phenotypic spectrum, however, is broad and ranges from non-immune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood. The symptoms of CEP develop due to excessive levels of the specific porphyrins that accumulate in tissues of the body as a result of the markedly impaired function of the UROS enzyme. Deficiency of the enzyme uroporphyrinogen III cosynthetase was demonstrated in peripheral blood Levin, ; Romeo and Levin, and cultured fibroblasts Romeo et al.
Carrier Heterozygote Detection Carrier testing for at-risk relatives requires prior identification of the UROS pathogenic variants in the family. University of Washington, Seattle; However, dermatologists and haematologists see most people with CEP and usually ask advice from a porphyria specialist centre that exist in most European countries.
Molecular genetic testing if the pathogenic variant s in the family are known. Alone we are rare. Revision History 7 April bp Comprehensive update posted live. Hemolytic anemia is common and can be mild to severe, requiring chronic blood transfusions in some.
Measurements of subnormal red cell uroporphyrinogen decarboxylase activity and urinary, fecal, and plasma porphyrin analyses in this patient and his 7 children indicated classic features of familial porphyria cutanea tarda Where can I get more information about CEP? Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.