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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The first manifestation is often pink to dark red discoloration of the urine. 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. Heme metabolism disorders E80 The Metabolic Basis of Inherited Disease. Splenomegaly usually develops secondary to hemolysis plrphyria can also lead to thrombocytopenia and leukopenia.
Congenital erythropoietic porphyria (CEP) | European Porphyria Network
The word porphyria originated from the Greek word porphura. CEP is not made worse by any of these medications. Gilbert’s syndrome Crigler—Najjar syndrome Lucey—Driscoll syndrome. For information about clinical trials conducted in Europe, contact: Avoidance of sunlight and Porlhyria light see Treatment of manifestations.
Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be heterozygotes and can be either asymptomatic or have a milder phenotype. Urinary porphyrin excretion is markedly increased times normal and consists eruthropoietic of uroporphyrin I and coproporphyrin I, erythroplietic lesser increases in hepta- hexa- and pentacarboxyl porphyrin isomers [ Fritsch et al ]. Check this box if you wish to receive a copy of your message. See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.
In erythropoietuc cases patients have not presented any symptoms until they have reached adulthood. Individuals with CEP edythropoietic not efythropoietic all of the features described here. Deposition of porphyrins may lead to corneal ulcers and scarring, which can ultimately lead to blindness.
Variants listed in the table have been provided by congeniral authors. Treatment consists of eliminating or treating the underlying cause and, if symptoms persist, frequent phlebotomies or therapy with oral low-dose hydroxychloroquine. Congenital erythropoietic porphyria is caused by a deficiency of uroporphyrinogen- synthase URO-S; the fourth enzyme in the heme biosynthesis pathway leading to a massive accumulation of isomeric I porphyrins uro and coproporphyrins in the bone marrow.
Uroporphyrinogen III cosynthetase in asymptomatic carriers of congenital erythropoietic porphyria. Permission is hereby granted to reproduce, distribute, and translate copies of ckngenital materials for noncommercial research purposes only, provided that i credit for source http: CC HPO: The most dramatic form of genetic porphyria is that which was early recognized as an inborn error of metabolism by Gunther Dean, In severely affected patients, anemia may be present in the fetus.
Males who inherit the pathogenic variant will be affected ; females who inherit the pathogenic variant will be heterozygotes and can be either asymptomatic or have a milder phenotype with predominantly hematologic abnormalities due to skewed X-inactivation [ Phillips et alDi Pierro et al ]. Wrythropoietic is currently reserved for those severely affected individuals who have a matched bone marrow donor.
GeneReviews is not responsible for the conggenital provided by other organizations. Different individuals may have different severity of the disease. Prognosis In severe forms hemolytic anemia and, in particular, thrombocytopenia dominate the prognosis and greatly diminish the life expectancy of patients.
The most common symptom of CEP is hypersensitivity of the skin to sunlight and some types of artificial light photosensitivitywith blistering of the skin occurring after exposure. Prenatal and preimplantation genetic diagnoses are available for subsequent pregnancies in CEP families.
Gunther disease – Wikipedia
Significant splenomegaly can appear, linked with hemolytic anemia. Presumably, exposure of the skin to sunlight or other sources of long-wave ultraviolet light in the Soret band nm leads to a phototoxic excitation of the accumulated uroporphyrin I and coproporphyrin I isomers.
Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid porphyrka. Successful cord blood stem cell transplantation for congenital erythropoietic porphyria Gunther’s disease.
Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. Similarly, some brothers or sisters of the affected person may also inherit one mutated gene from one of the parents, but because they also inherit a normal gene from the other parent, they do not have CEP.
Most give details about all the forms of porphyria. Indian Journal of Dermatology. In addition to protection from sunlight, the anemia should be treated, if present. Coexistent hereditary coproporphyria and congenital erythropoietic porphyria Gunther disease. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
Rare Disease Database
Somatic and mental development were poor. Distinct biochemical porphyrin profile Developmental delay in some.
Inhibition of the enzyme activity resulting in PCT can be caused by excessive alcohol intake, hemochromatosis, viral hepatitis mostly hepatitis CHIV infection, certain medications, and environmental exposures such as aromatic polyhalogenated hepatotoxins. Erythroooietic protection using protective clothing including long sleeves, gloves, and wide-brimmed hats. Together we are strong.
GeneReviews staff have not independently verified the classification of variants. This involves transplanting healthy bone marrow from another person the donor to that of the person with CEP the recipient. A project exploring ex-vivo genetic treatment of bone marrow cells is currently in progress.
How is CEP diagnosed? To develop CEP, one has to have two copies of the mutated gene, one inherited from each parent as shown in the diagram. View in own window. The patient described by Pollack and Rosenthal was the offspring of first-cousin parents and showed organomegaly, hemolytic anemia, thrombocytopenia, and cutaneous blisters.