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 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.

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Due to abnormally low levels of these enzymes, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. New Zealand Dermatological Society. Retrieved November 28, See Genotype-Phenotype Correlations for predictors of disease severity. Accessed May 25, Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria Gunther’s disease.

The acute porphyrias are characterized by the acute-onset of neurologic attacks especially abdominal pain, hypertension, etc. Acute hepatic porphyria is apparently recessive see However the scarring from previous damage to the skin is permanent. NORD gratefully acknowledges R. Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

As it is so rare, the exact number of people affected by CEP is not clear. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. The porphyrias can be classified as cutaneous or acute depending on porphyriq respective manifestations See www.

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Congenital erythropoietic porphyria (CEP) | European Porphyria Network

Junctional epidermolysis bullosa JEB. There is a constant risk of the lesions becoming infected but generally this is controlled by antibiotic therapy. Fritsch et al []Kontos et al []Sarkany et al []. Corrective surgery of eyelids to help protect the cornea from injury in those with ectropion [ Katugampola et al a ].

Dubin—Johnson syndrome Rotor syndrome. The use of topical sunscreens, protective clothing, long sleeves, hats, gloves, and sunglasses are strongly recommended. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. As CEP is a very rare condition, most general practitioners will have little experience of the condition.

The symptoms associated with the various types of porphyria differ, depending upon the specific enzyme that is deficient. Hematin therapy in late onset congenital erythropoietic porphyria.

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. It is appropriate to offer genetic counseling including discussion of potential risks to offspring and reproductive options to young adults who are affectedare carriers, or are at risk of being carriers.

Porphura actually means “purple pigment”, which, in suggestion, the color that the body fluid changes when a person has Gunther’s disease. Congenital porphyria with necrotizing scleritis in a 9-year-old child. How is CEP inherited?

In addition, in some cases, affected individuals may also exhibit malformations of the fingers and nails. CC HPO: Coexistent hereditary coproporphyria and congenital erythropoietic porphyria Gunther disease.

Iron overload was mitigated by slow infusions of deferoxamine. 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.

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Congenital Erythropoietic Porphyria – NORD (National Organization for Rare Disorders)

Diaper diagnosis of porphyria. Gunther diseasealso known as congenital erythropoietic porphyria CEPuroporphyrinogen III congwnital deficiency and UROS deficiency[1] [2] is a congenital form of erythropoietic porphyria. To block the ultraviolet and visible light wavelengths and get the protection that patients with Gunther’s disease require, physical barriers are needed. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.

The anemia can be severe and such patients require periodic transformations to maintain sufficient red blood cells. Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. The Journal of Biological Chemistry.

Rare Disease Database

Flyger and Levin noted that this appears to be the only mammalian species that possesses this characteristic except as a rare pathologic condition. Prenatal Diagnosis Uroporphyrinogen III cosynthetase is expressed in cultured amniotic cells so that prenatal diagnosis is possible Deybach et al. General Discussion Congenital erythropoietic porphyria CEP is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen lll cosynthase UROSthe fourth enzyme in the heme biosynthetic pathway.