Distúrbio metabólico congênito raro caracterizado por um erro congênito da biossíntese de porfirina-heme. Os sinais e sintomas incluem fotossensibilidade cutânea dolorosa que leva a bolhas e cicatrizes nas áreas expostas da pele, eritrodontia, descoloração vermelha da urina, anemia hemolítica e esplenomegalia.
Introdução
O que você precisa saber de cara
Distúrbio metabólico congênito raro caracterizado por um erro congênito da biossíntese de porfirina-heme. Os sinais e sintomas incluem fotossensibilidade cutânea dolorosa que leva a bolhas e cicatrizes nas áreas expostas da pele, eritrodontia, descoloração vermelha da urina, anemia hemolítica e esplenomegalia.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição.
Catalyzes the ferrous insertion into protoporphyrin IX and participates in the terminal step in the heme biosynthetic pathway
Mitochondrion inner membrane
Protoporphyria, erythropoietic, 1
An autosomal recessive form of porphyria with onset usually before age 10 years. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals.
Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products (PubMed:14643893, PubMed:21252495, PubMed:21309041, PubMed:21653323, PubMed:32499479, PubMed:34492704). Contributes significantly to heme formation during erythropoiesis (PubMed:2050125) Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-
Mitochondrion inner membrane
Anemia, sideroblastic, 1
A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.
ATP-dependent chaperone that functions as an unfoldase. As part of the ClpXP protease complex, it recognizes specific protein substrates, unfolds them using energy derived from ATP hydrolysis, and then translocates them to the proteolytic subunit (CLPP) of the ClpXP complex for degradation (PubMed:11923310, PubMed:22710082, PubMed:28874591). Thanks to its chaperone activity, it also functions in the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activa
MitochondrionMitochondrion matrix, mitochondrion nucleoid
Protoporphyria, erythropoietic, 2
An autosomal dominant form of porphyria with onset in infancy. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals.
Variantes genéticas (ClinVar)
389 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
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Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
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Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
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R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
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R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
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R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
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R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
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Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
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Publicações mais relevantes
Hematopoietic stem cell transplantation for erythropoietic porphyria-induced acute liver failure: a case report and literature review.
Protoporphyrias are rare genetic disorders in heme biosynthesis, causing protoporphyrin IX accumulation with progressive liver injury. Liver transplantation has traditionally treated protoporphyria-induced liver injury but does not correct the underlying hematopoietic defect. We present a 16-year-old male with painful cutaneous photosensitivity who developed cholestatic liver dysfunction and severe abdominal pain. After plasmapheresis, red blood cell (RBC) transfusions, and intravenous hemin, he had transient improvement and subsequently underwent hematopoietic stem cell transplantation (HSCT) without liver transplantation, which normalized his protoporphyrin levels, liver function, and symptoms. This case underscores HSCT as a disease-modifying therapy that may prevent liver transplantation when performed before irreversible hepatic damage.
Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report.
Background and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic type I porphyrins. CEP classically presents in infancy with severe photosensitivity, blistering, scarring, and hemolytic anemia; however, significant phenotypic variability has increasingly been recognized. Case Presentation: We report a 32-year-old woman diagnosed with CEP in early infancy who demonstrated persistently and profoundly elevated erythrocyte porphyrin levels over more than a decade, yet who followed a relatively non-mutilating clinical course. Genetic testing identified a low-penetrance intronic UROS variant typically associated with erythropoietic protoporphyria, underscoring diagnostic challenges and genotype-phenotype discordance. The patient experienced marked improvement in photosensitivity and burning pain after initiation of afamelanotide, without the need for transfusion therapy or stem cell transplantation. Conclusions: This case highlights the heterogeneity of CEP, the importance of long-term biochemical follow up, and the potential role of afamelanotide in improving quality of life for selected patients with CEP.
Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report.
Congenital erythropoietic porphyria (CEP), especially neonatal-onset CEP, is a rare autosomal recessive disorder with an estimated incidence of one in one million. It is caused by UROS gene variants and may mimic severe systemic conditions, delaying diagnosis. We report a male neonate born with asphyxia, hepatosplenomegaly, cytopenia, and multiorgan dysfunction, initially suspected to have familial hemophagocytic lymphohistiocytosis. Targeted panels for familial hemophagocytic lymphohistiocytosis and autoinflammatory disorders were negative. Red urine and photosensitive blistering lesions were observed. Rapid trio whole genome sequencing identified a homozygous NM_000375.3 (UROS):c.562G>T (p.Gly188Trp) variant previously reported only in compound heterozygous patients and classified as pathogenic in ClinVar (RCV000003959). Subsequent biochemical testing confirmed markedly elevated porphyrin levels, establishing a diagnosis of CEP. This case highlights the diagnostic challenges of neonatal CEP, where systemic illness may obscure the classical signs. This underscores the value of a genomics-first approach in critically ill neonates.
Hematopoietic stem cell transplantation in pediatric congenital erythropoietic porphyria: a French retrospective multicenter registry study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy (SFGM-TC).
Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.
In humans, an enzyme dysfunction in heme biosynthesis results in a heterogenous group of diseases collectively known as porphyrias. From a clinical standpoint, porphyrias can be classified as erythropoietic (congenital erythropoietic porphyria-CEP, erythropoietic/X-linked protoporphyria-EPP/XLP) or hepatic (acute hepatic porphyrias-AHPs, porphyria cutanea tarda-PCT), according to the site of organ dysfunction deemed to be responsible for the disease. In terms of total heme production, the liver accounts for the second major heme-synthesizing organ, after the bone marrow. In fact, heme is necessary as a prosthetic group in countless biologic functions, to which hepatic contribution is essential. Furthermore, the pathway of heme biosynthesis is inscribed into a network of fundamental metabolic reactions largely occurring in hepatocytes. Independent of their classification, all porphyrias share some degree of involvement of the liver, either in the pathogenesis, clinical manifestations, or as a preferential target of damage. Crucially, even those types of porphyrias that have been classically defined as erythropoietic do present a hepatic involvement, which can lead to poor clinical outcomes if neglected. Therefore, hepatologists should consider porphyrias as a differential diagnosis for otherwise unexplained presentations of liver disease. At the same time, a multidisciplinary team dealing with the diagnostic workup and clinical management of all types of porphyrias must include an expert in liver diseases. In this review, we aimed to recapitulate the main aspects of liver involvement in porphyrias, while also providing practical tools to recognize and manage these conditions from the hepatologist's perspective.
Publicações recentes
Hematopoietic stem cell transplantation in pediatric congenital erythropoietic porphyria: a French retrospective multicenter registry study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy (SFGM-TC).
Hematopoietic stem cell transplantation for erythropoietic porphyria-induced acute liver failure: a case report and literature review.
Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report.
Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report.
Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.
📚 EuropePMC320 artigos no totalmostrando 102
Hematopoietic stem cell transplantation in pediatric congenital erythropoietic porphyria: a French retrospective multicenter registry study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy (SFGM-TC).
Bone marrow transplantationHematopoietic stem cell transplantation for erythropoietic porphyria-induced acute liver failure: a case report and literature review.
Clinics and research in hepatology and gastroenterologyCongenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report.
Reports (MDPI)Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report.
NeonatologyPorphyrias: Pathophysiology and clinical management recommendations for hepatologists.
Hepatology communications[Two siblings with congenital erythropoietic porphyria in one family: case report and literature review].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsLate recurrence of congenital erythropoietic porphyria symptoms after initial remission post-bone marrow transplant.
Indian journal of dermatology, venereology and leprologyCongenital Erythropoietic Porphyria.
JAMA dermatologyIdentification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria.
Frontiers in geneticsCongenital erythropoietic porphyria: the overlooked inherited disorder.
BMJ case reportsScavenger endothelial cells alleviate tissue damage by engulfing toxic molecules derived from hemolysis.
Proceedings of the National Academy of Sciences of the United States of AmericaNeedle-like red cell inclusions in congenital erythropoietic porphyria.
British journal of haematologySevere Acute Porphyria Exacerbation Post Intravenous Iron Infusion: A Case Report.
CureusCongenital Erythropoietic Porphyria: A Case of Hepatic Failure and Angioedema Following Ferrous Sulfate Supplementation.
Pediatric dermatologyAfamelanotide in protoporphyria and other skin diseases: a review.
Postepy dermatologii i alergologiiFrom chemistry to genomics: A concise history of the porphyrias.
Liver international : official journal of the International Association for the Study of the LiverThe role of allogeneic stem cell transplantation in severe erythropoietic protoporphyria in adults and young adults: timing and modalities.
Hematology, transfusion and cell therapyPorto-Sinusoidal Vascular Disease in Congenital Erythropoietic Porphyria Needing Liver Transplantation.
ACG case reports journalSuccessful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report.
Skin health and diseaseCongenital Erythropoietic Porphyria: A Rare Inherited Disorder.
CureusCausal effect of porphyria biomarkers on alcohol-related hepatocellular carcinoma through Mendelian Randomization.
PloS oneCongenital erythropoietic porphyria five years observation with standard treatment: a case report.
Oxford medical case reportsSevere Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.
Life (Basel, Switzerland)Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report.
Journal of medical case reportsClonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review.
Blood cells, molecules & diseasesAcute Porphyria: An Unusual Case Of Quadriparesis, Hypertension, Recurrent Severe Cyclic Abdominal Pain, And Seizures.
JPMA. The Journal of the Pakistan Medical AssociationUpdate on the Porphyrias.
Annual review of medicineTwelve-year follow-up of bone marrow transplantation in congenital erythropoietic porphyria: lessons learned from a challenging case.
Clinical and experimental dermatologyOcular protection in congenital erythropoietic porphyria: A potential role for gaming glasses.
Photodermatology, photoimmunology & photomedicineBullous lesions following phototherapy in a newborn.
Einstein (Sao Paulo, Brazil)Porphyrias: Uncommon disorders masquerading as common childhood diseases.
Journal of postgraduate medicineLagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria.
Orbit (Amsterdam, Netherlands)Acquired erythropoietic uroporphyria associated with clonal cytopenia of undetermined significance.
JAAD case reportsVery Early Diagnosis and Management of Congenital Erythropoietic Porphyria.
Clinical pediatricsRole of phlebotomy in the treatment of liver damage related to erythropoietic porphyria.
Scientific reportsNovel mutation in the UROS gene causing congenital erythropoietic porphyria in an elderly Japanese female.
The Journal of dermatologyLate-Onset Congenital Erythropoietic Porphyria.
JAMA dermatologyIron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay.
MetabolitesAn Atypical Case of Congenital Erythropoietic Porphyria.
GenesCardiopulmonary bypass in a child with erythropoietic protoporphyria.
The Australasian journal of dermatologyAcquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review.
Photodermatology, photoimmunology & photomedicineHematopoietic stem cell transplant for erythropoietic porphyrias in pediatric patients.
Pediatric blood & cancerPerinatal onset of severe congenital erythropoietic porphyria.
Archives of disease in childhood. Fetal and neonatal editionBone marrow erythroid cell inclusions reveal congenital erythropoietic porphyria.
British journal of haematologyImproving the Pharmacological Properties of Ciclopirox for Its Use in Congenital Erythropoietic Porphyria.
Journal of personalized medicineHypertrichosis and erythrodontia in congenital erythropoietic porphyria.
EJHaemAcitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models.
Scientific reportsCongenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients.
JAAD case reportsCase Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach.
Frontiers in veterinary scienceIdentification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.
Molecular genetics and metabolism reportsMetabolic Landscape of the Mouse Liver by Quantitative 31 P Nuclear Magnetic Resonance Analysis of the Phosphorome.
Hepatology (Baltimore, Md.)A simple Rx for congenital erythropoietic porphyria.
BloodUse of polarized dermoscopy in the evaluation of congenital erythropoietic porphyria.
Clinical and experimental dermatologyMutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.
Stem cell reportsCongenital erythropoietic porphyria (Gunther disease): a case report.
Oxford medical case reportsIron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.
BloodMild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model.
American journal of hematologyPhlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.
HaematologicaBone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow TransplantationPhototherapy in the Evaluation and Management of Photodermatoses.
Dermatologic clinicsGenetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria).
Biochemical and biophysical research communicationsOcular manifestations in patient with congenital erythropoietic porphyria.
Indian journal of ophthalmologyHeme biosynthesis and the porphyrias.
Molecular genetics and metabolismCongenital Erythropoietic Porphyria: A Rare Case of Photosensitivity with Hemolytic Anaemia and Mental Retardation.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPClinical Guide and Update on Porphyrias.
GastroenterologyCRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.
Nature communicationsMurine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Molecular genetics and metabolism[The cutaneous porphyrias].
Annales de dermatologie et de venereologieCongenital erythropoietic porphyria with erythrodontia: A case report.
International journal of paediatric dentistryCongenital erythropoietic porphyria: Recent advances.
Molecular genetics and metabolismMolecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.
Molecular medicine (Cambridge, Mass.)Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Molecular genetics and metabolismCongenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Molecular genetics and metabolismAnaesthetic concerns in the patients with congenital erythropoietic porphyria for ocular surgery.
Journal of clinical anesthesiaScleritis in congenital erythropoietic porphyria - infective or inflammatory?
Indian journal of ophthalmologyRepurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
Science translational medicineAcquired erythropoietic uroporphyria and myelodysplastic syndrome cured by bone marrow transplantation.
The British journal of dermatologyBrain perfusion defects by SPET/CT and neurostat semi-quantitative analysis in two patients with congenital erythropoietic porphyria.
Hellenic journal of nuclear medicine[Congenital erythropoietic porphyria: case report and management recommendations].
Archivos argentinos de pediatriaPrevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria.
The Journal of dermatologyNeonatal hemolytic anemia does not always indicate thalassemia: a case report.
BMC research notesAcquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report.
The British journal of dermatologyNeonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.
JIMD reportsMissense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Human molecular geneticsCongenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review.
Dermatology online journalHemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model.
HaematologicaCongenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.
Clinical and experimental dermatologyA Case of Congenital Erythropoietic Porphyria without Haemolysis.
European journal of case reports in internal medicineCongenital Erythropoietic Porphyria with Undescended Testis.
Indian journal of dermatologyCutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989-2013.
Acta dermato-venereologicaLate-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation.
The British journal of dermatologyAdvances in understanding the pathogenesis of congenital erythropoietic porphyria.
British journal of haematologyA Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations.
Middle East African journal of ophthalmologyScleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature.
Oman journal of ophthalmologyA Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
Folia biologica[Congenital erythropoietic porphyria : An update].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteBiology of Heme in Mammalian Erythroid Cells and Related Disorders.
BioMed research internationalCongenital Erythropoietic Porphyria With Calcific Constrictive Pericarditis: A Case Report and Brief Review of Literature.
World journal for pediatric & congenital heart surgerySuccessful hematopoietic stem cell transplantation in a child with congenital erythropoietic porphyria due to a mutation in GATA-1.
Pediatric transplantationPorphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Current protocols in human geneticsInducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.
BloodX-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.
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Referências e fontes
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Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Hematopoietic stem cell transplantation for erythropoietic porphyria-induced acute liver failure: a case report and literature review.
- Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report.
- Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report.
- Hematopoietic stem cell transplantation in pediatric congenital erythropoietic porphyria: a French retrospective multicenter registry study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy (SFGM-TC).
- Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:659681(Orphanet)
- MONDO:0001676(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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