CONGENITAL ERYTHROPOIETIC PORPHYRIA PDF

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 G√ľnther 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.

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Significant splenomegaly can appear, linked with hemolytic anemia. Since its description at the end of the 19th century, about cases have been reported in the literature. Autosomal recessive disorders Rare diseases Skin conditions resulting from errors in metabolism Porphyrias.

Clinical Synopsis Eryythropoietic Dropdown.

Photosensitivity is seen from birth; however, in some cases, it may not occur until childhood, adolescence or adulthood.

See Quick Reference for an explanation of nomenclature. This lorphyria result in damage to tissues of internal organs, just like the skin blistering after exposure to bright light.

In addition, in some cases, affected individuals may also exhibit malformations of the fingers and nails. The most common UROS pathogenic variantc.

OMIM Entry – # – PORPHYRIA, CONGENITAL ERYTHROPOIETIC

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria. The treatment of CEP is aimed at preventing scarring of skin and eyes, and treatment of the complications mentioned above. Most of the symptoms of these porphyrias are not similar to the symptoms found in CEP.

Wound care is necessary to prevent infection of opened blisters; surgical intervention may be necessary; blood transfusions are necessary when hemolysis is significant. Clinical findings Non-immune hydrops fetalis. Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria. Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.

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Formal diagnostic criteria have not been established for congenital erythropoietic porphyria CEP. This Patient Information is based on the leaflet written by Dermatologist Dr R Katugampola, and includes information and experience gained from her clinical research study during which she interviewed and examined more than 20 CEP patients.

Skip congenitxl main content. We are determined to keep this website freely accessible. Secondary splenomegaly may develop as a consequence of hemolytic anemia. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are erythropoiftic.

Incandescent bulbs replace the normal fluorescent lamps. A more invasive way to help treat Gunther’s disease would be to have surgery.

Different individuals may have different severity of the disease. CEP is not made worse by any of these medications. The authors pointed out that the usefulness of charcoal therapy in photocutaneous porphyrias other than this form and in reversing the hepatic lesion in patients with protoporphyric liver disease remains to be explored.

Therefore, unless the person is allergic to a medication for any other reason, individuals with CEP have no restrictions in taking any form of medication that their health requires. Other treatment is symptomatic and supportive. However, individuals with porphyria cutanea tarda may develop skin lesions, and these lesions resemble the skin lesions found in CEP.

For information about clinical trials conducted in Europe, contact: Hydroxymethylbilaneprecursor to uroporphyrinogen III. After exposure to light, the skin may become itchy and red. How is CEP inherited? OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.

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Carrier Heterozygote Detection Carrier testing for at-risk relatives requires prior identification of the UROS pathogenic variants in the family. Management of the disease is often difficult becausehemolytic anemia, splenic sequestration and thrombocytopenia often necessitate repeated transfusions, which in turn can lead to iron overload. Prenatal exclusion of congenital erythropoietic erythropoietiic Gunther’s disease in a fetus at risk.

Usually, the disease porpyria itself soon after birth or in early childhood, but sometimes onset of disease is delayed until adolescence or early adulthood. Causes Congenital erythropoietic porphyria is inherited as an autosomal recessive genetic condition.

In the newborn period the patient developed intense jaundice with hepatosplenomegaly associated with diffuse bleeding and thrombocytopenia.

Severe osteopenia in congenital erythropoietic porphyria.

Congenital erythropoietic porphyria (CEP)

For issues to consider in interpretation of sequence analysis results, click here. CCCC ]. Congenital erythropoietic porphyria due to a mutation in GATA1: In addition to protection from sunlight, the anemia should be treated, if present. Investigational Therapies Information on current clinical trials is posted on the Internet at www. Autologous as well as allogeneic stem cell transplants have been performed successfully [ Thomas et alTezcan et alHarada et alShaw et alDupuis-Girod et alTaibjee et alFaraci et al ].

American Society of Hematology. September 12, ; Last Update: Pregnancy in a patient with congenital erythropoietic porphyria. Badminton 18 January