Thats a protein in red blood cells that carries oxygen from the lungs to the rest of. Congenital erythropoietic porphyria the american journal of. Erythropoietic porphyria an overview sciencedirect topics. Congenital erythropoietic porphyria definition in the. Case report congenital erythropoietic porphyria gunthers. This porphyria is due to deficiency of uroporphyrinogen iii cosynthase and accumulation of hmv which is converted non enzymatically to uroporphyrinogen i. Congenital erythropoietic porphyria cep is a rare genetic disease resulting. Pdf severe neonatal congenital erythropoietic porphyria. Congenital erythropoietic porphyria is a rare autosomal recessive disease produced by deficient activity of uroporphyrinogen iii synthase, the fourth enzyme in the heme biosynthetic pathway. Congenital erythropoietic porphyria cep congenital erythropoietic porphyria cep is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen lll cosynthase uros, the fourth enzyme in the heme biosynthetic pathway. Onset in most affected individuals occurs at birth or early infancy. Congenital erythropoietic porphyria cep is one of the rarest autosomalrecessive disorders of the porphyrin metabolism caused by the homozygous defect of. Congenital erythropoietic porphyria gunther disease congenital erythropoietic porphyria, or gunther disease, is one of the least common porphyrias. Congenital erythropoietic porphyria genetic and rare.
Two brothers with mild congenital erythropoietic porphyria. Of the porphyrias, it is the most mutilating type, usually presenting early in life. Congenital erythropoietic porphyria, an autosomal recessive disease, is characterized by deficiency of uroporphyrinogen iii synthase. The inheritance patterns, enzymatic defects and accumulated porphyrins in the erythropoietic porphyrias are shown in table i. Congenital erythropoietic porphyria is an autosomal recessive condition. Congenital porphyria in animals was first described by fourie and rimington1, who found the condition in cattle in south africa. May 24, 2018 congenital erythropoietic porphyria due to a mutation in gata1. Genebank nm000375, efforts have been made to clarify underlying mutations that cause cep. Erythropoietic porphyria ep, or congenital erythropoietic porphyria cep, results from a deficiency of an enzyme in the pathway for heme synthesis. There is no permanent cure and the treatment is supportive. Neither we nor the doctors had any idea what was ahead of us.
It is panethnic, although like other autosomal recessive conditions prevalence is increased in communities where consanguinity is common. Listen to the audio pronunciation in the cambridge english dictionary. Analytical sensitivity is 99% as all reported variants are detectable by this method. Congenital erythropoietic porphyria cep is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over lightexposed areas. Advances in understanding the pathogenesis of congenital. Congenital erythropoietic porphyria is caused by a deficiency of uroporphyrinogen synthase uros. Congenital erythropoietic porphyria cep is one of the rarest autosomal recessive disorders of the porphyrin metabolism caused by the homozygous defect of. The word porphyria originated from the greek word porphura. Congenital erythropoietic porphyria cep is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen iii synthase uros, the fourth enzyme in the heme biosynthetic pathway.
Epp is due to an inherited deficiency of the enzyme ferrochelatase. May 20, 2018 congenital erythropoietic porphyria cep is a rare, genetic, skin condition commonly present in young children. Congenital erythropoietic porphyria cep, also known as gunthers disease, is a metabolic disease caused by a transformation in the gene that codifies uroporphyrinogen. A 32yearold man presented with severe pain, swelling, and loss of vision in his left eye after excessive exposure.
Congenital erythropoietic porphyria austin publishing group. Congenital erythropoietic porphyria cep is the rarest type of porphyria and is commonly seen in infancy. How to pronounce congenital erythropoietic porphyria in english. It is estimated that about 1 in every 23 million people are affected by cep, which affects males and females equally, and occurs in all skin types. Each subtype results from deficient activity of a specific enzyme in the heme biosynthetic pathway. Congenital erythropoietic porphyria cep, also called gunthers disease after the doctor who first described it, is the rarest of the porphyrias. It is one of the most severely affected photosensitive disorders. Congenital erythropoietic porphyria cep is a rare inherited disorder mainly due to a defect in uroporphyrinogen iii synthase uros. Congenital erythropoietic porphyria cep is a rare sub group. The erythropoietic porphyrias include congenital erythropoietic. Erythropoietic protoporphyria epp is a type of porphyria. Gunther disease, also known as congenital erythropoietic porphyria cep, uroporphyrinogen iii synthase deficiency and uros deficiency, is a congenital form. The major manifestations are blistering skin conditions, often severe and leading to deformities, and hemolytic anemia.
Types of porphyria alberta canada porphyria society. The signs may present from birth and include severe photosensitivity, brown teeth that fluoresce in ultraviolet light due to deposition of type 1 porphyrins, and later hypertrichosis. Most other forms of genetic porphyria are dominantly inherited 120, 176000, 176100, 176200. In this condition, the skin is severely sensitive to light, which often presents as scarring, blistering, and hair growth on the handsface. Congenital erythropoietic porphyria cep is a rare autosomal recessive disease caused by the deficient activity of the heme biosynthetic enzyme, uroporphyrinogen iii synthase urosynthase, and. A fourteen year old girl with classic congenital erythropoietic porphyria has recurrent skin bullae, mutilating scarring of the face and hands, hirsutism. The rarest is congenital erythropoietic porphyria c. Clinical manifestations range from severe mutilation to mild erosions and blisters on sunexposed areas. Congenital erythropoietic porphyria congenital erythropoietic porphyria cep is a rare cutaneous pophyria which presents with photosensitivity, complicated by presence of hemolytic anemia.
Congenital erythropoietic porphyria cep is a rare, hereditary disease of cattle, pigs, cats, and people that results from a significant yet variable decrease in uroporphyrinogen iii synthase urosynthase activity. Patients with congenital erythropoietic porphyria cep lack normal uros activity, and as a result the hmb intermediate accumulates excessively in bone marrow red blood cell rbc precursors that are actively synthesizing hemoglobin. Pdf congenital erythropoietic porphyria researchgate. Erythropoietic porphyria is primarily a disorder of heme synthesis that occurs in the bone marrow. Congenital erythropoietic porphyria cep, also called gunthers disease after. It is a rare, autosomal recessive metabolic disorder affecting heme, caused by deficiency of the enzyme uroporphyrinogen cosynthetase. What is the cause of congenital erythropoietic porphyria. People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria may need surgery to remove the spleen or blood transfusions to treat anemia. Ocular involvement in congenital erythropoietic porphyria. The primary abnormality is an almost complete absence of uros activity, previously termed uroporphyrinogen iii cosynthase. Congenital erythropoietic porphyria indian pediatrics. The erythropoietic porphyrias include congenital erythropoietic porphyria cep and erythropoietic protoporphyria autosomal dominant ferrochelatase deficiency. Urosynthetase is the fourth enzyme in the heme biosynthesis pathway, and it normally converts hydroxymethylbilane to. Efficacy and safety of sildenafil in the treatment of severe pulmonary hypertension in patients with hemoglobinopathies.
Xlinked dominant erythropoietic protoporphyria is a relatively mild version of porphyria with the predominant symptom being extreme photosensitivity causing severe itching and burning sensation of the skin due to the buildup of protoporphyrin ix. Case report congenital erythropoietic porphyria associated. Mar 22, 2017 congenital erythropoietic porphyria cep is the rarest type of porphyria and is commonly seen in infancy. Pdf congenital erythropoietic porphyria cep, or gunther disease, is a rare variant of porphyria. Congenital erythropoietic porphyria cep is the rarest type of porphyria and. Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will not exceed 72 hours. Congenital erythropoietic porphyria cep since the day he was born, our baby oliver has been through more than most of us have in our entire lives. Congenital erythropoietic porphyria has been included in the chronic. How to pronounce congenital erythropoietic porphyria. Porphyrin can be overproduced in the liver or bone marrow, therefore some authors classify porphyrias as erythropoietic or hepatic according to the main site of overproduction of heme precursors 8. Erythropoietic protoporphyria epp is one of a group of genetic diseases called the porphyrias. Congenital erythropoietic porphyria, or gunther disease, is a form of erythropoietic porphyria characterized by very. Porphyrias are caused by an abnormality in the heme production process. A rare case of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations.
In a series of unrelated patients with congenital erythropoietic porphyria, pathogenic variants in the uros gene were identified in 24 of 27 cases katugampola et al. Congenital erythropoietic porphyria british association of. Congenital erythropoietic porphyria karger publishers. Congenital erythropoietic porphyria due to a mutation in gata1. A surgeon removes the spleen in a hospital, and a patient receives general anesthesia. Chronic facial scarring, hirsutism, and fluorescent teeth, which are common in congenital erythropoietic porphyria or hepatoerythropoietic porphyria, are not usually found in epp. Urosynthetase is the fourth enzyme in the heme biosynthesis pathway, and it normally converts hydroxymethylbilane to uroporphyrinogen iii. In congenital erythropoietic porphyria mice, the proteasome inhibitor bortezomib has been used with some success to reverse the premature mutant protein degradation caused by deficiency of. Need for measurement of porphyrins in teardrops in patients. Congenital erythropoietic porphyria cep is very rare metabolic disorder affecting the synthesis of haem, the ironcontaining pigment that binds oxygen onto red blood cells. Congenital erythropoietic porphyria british skin foundation.
Congenital erythropoietic porphyria cep congenital erythropoietic porphyria cep is also a very rare form of porphyria inherited as an autosomal recessive trait associated with a deficiency in the enzyme activity of uroporphyrinogen cosynthetase. Longterm survival and reversal of iron overload after marrow transplantation in dogs with congenital hemolytic anemia. Congenital erythropoietic porphyria cep, also called gunthers disease after the doctor who described it in 1911, is an inherited disease and the rarest of the main types of porphyria, in cep the activity of an enzyme called uroporphyrinogen iii synthase uros is very low. Gunther disease, is a congenital form of erythropoietic porphyria. Therapeutic potential of proteasome inhibitors in congenital. Congenital erythropoietic porphyria with erythrodontia. Congenital erythropoietic porphyria congenital erythropoietic porphyria is an erythropoietic porphyria inherited in an autosomal recessive fashion. One possible treatment was discovered when treating an individual with supplemental iron for a gastric ulcer. Congenital erythropoietic porphyria is a rare autosomal recessive disorder that usually presents with marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photoexposed areas.
When erythropoietic protoporphyria is caused by mutations in the alas2 gene, it has an xlinked dominant pattern of inheritance. It was initially described by hans gunther so is also known as gunther disease. This leads to the accumulation of toxic porphyrins, which make tissues photosensitive. A 3 dayold male baby was admitted with neonatal jaundice for phototherapy. Congenital erythropoietic porphyria metabolic disorders. Congenital erythropoietic porphyria cep is an extremely rare autosomal recessively inherited disorder of the haem synthesis pathway first described by gunther in 1911. Nineteen of the patients were female, fourteen were male. This leads to increased production of porphyrins, called type i. Cep also has been termed gunther disease, erythropoietic porphyria. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver.
Congenital erythropoietic porphyria and hepatoerythropoietic porphyria. Congenital erythropoietic porphyria cep, or gunther disease, is a rare bullous porphyria, with a uk prevalence of 1 in 3 million. Congenital erythropoietic porphyria cep is characterized in most individuals by severe cutaneous photosensitivity with blistering and. It is autosomal recessive in nature and very few cases have been described in medical literature. The diagnosis and management of erythropoietic protoporphyria. Clinical variability of the disease is related to the. Editor,the porphyrias are a group of rare inherited disorders caused by specific enzymatic defects of the haem biosynthetic pathway. What is the pathophysiology of congenital erythropoietic. Congenital erythropoietic porphyria in three siblings bari a. The development of dentition can also be affected by a number of systemic factors and metabolic diseases such as porphyria. We present the results of a study of the porphyrinforming enzymes in the erythrocytes of a recently detected case of cbp, in the immediate family, and in the family of a second cousin who died in infancy with a clinical picture similar lo that seen.
The disease affects many organs, can be lifethreatening, and currently lacks curative treatments. Congenital erythropoietic porphyria or gunthers disease is a rare form of cutaneous porphyria. Congenital erythropoietic porphyria cep, gunthers disease is an extremely rare autosomal recessive disease there have been only 33 case reports in japan to date. Reduced activity of this enzyme causes a buildup of the chemical protoporphyrin in the skin. Sep 14, 2019 congenital erythropoietic porphyria cep. Congenital erythropoietic porphyria cep is a rare, genetic, skin condition commonly present in young children. The most common type of porphyria is porphyria cutanea tarda. Each type of porphyria has the same root cause a problem with making heme.
Severe neonatal congenital erythropoietic porphyria. Congenital erythropoietic porphyria cep is a rare subgroup. Repurposing ciclopirox as a pharmacological chaperone in a. Without warning, i was told that oliver needed to be born early due to complications with little to no amniotic fluid. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Congenital erythropoietic porphyria or gunthers disease belong to the group of erythropoietic porphyrias with predominant cutaneous manifestations. Porphura actually means purple pigment, which, in suggestion, the color that the body fluid changes when a person has gunthers disease. How is congenital erythropoietic porphyria treated. Porphyrias with an autosomal recessive pattern of inheritance include alad deficiency porphyria, congenital erythropoietic porphyria, and some cases of erythropoietic protoporphyria. The cause of this disease is the deficient activity of uroporphyrinogen iii synthase uros. Erythropoietic protoporphyria genetic and rare diseases.
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