A porfiria variegata é uma forma de porfiria hepática aguda caracterizada pela ocorrência de crises neuroviscerais com ou sem presença de lesões cutâneas.
Introdução
O que você precisa saber de cara
A porfiria variegata é uma forma de porfiria hepática aguda caracterizada pela ocorrência de crises neuroviscerais com ou sem presença de lesões cutâneas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 27 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 68 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX
Mitochondrion inner membrane
Variegate porphyria
A form of porphyria. 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. Variegate porphyria is an acute hepatic form characterized by partial reduction of protoporphyrinogen oxidase activity, increased photosensitivity, skin blistering and scarring of sun-exposed areas, skin hyperpigmentation, abdominal pain, and neuropsychiatric symptoms. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Inheritance is autosomal dominant with incomplete penetrance.
Variantes genéticas (ClinVar)
104 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 83 variantes classificadas pelo ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Porfiria variegada
Centros de Referência SUS
21 centros habilitados pelo SUS para Porfiria variegada
Centros para Porfiria variegada
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
8 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.
We report on an infant girl with biliary atresia, who, at the age of 6 months, received a living-related liver transplantation (LRLT), (segments II/III) from her 37-year-old healthy mother. Five months after LRLT, the child developed skin lesions on sunlight exposed skin areas. Based on plasma fluorescence scanning, biochemical findings and DNA testing variegate porphyria (VP) was diagnosed in the girl. In this remarkable case hepatic heme synthesis was induced in the transplanted liver through medication (metamizole), stress and infection (cholangitis), unmasking previously undiscovered partial enzyme deficiency of PPOX. LRLT with subsequent manifestation of heterozygous VP in very early childhood has not been described hitherto. Our report will increase awareness of "rare risks" for "rare diseases" in liver transplantation.
A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.
Variegate porphyria (VP) is a rare metabolic disorder. Its diagnosis is challenging when cutaneous features are absent and symptoms overlap with common conditions like diabetic neuropathy. We report a 71-year-old female with a 30-year history of type 2 diabetes and a 3-year history of mild chronic abdominal pain and psychiatric symptoms. Extensive workup for common abdominal pathologies was negative. A positive urine sun exposure test prompted genetic analysis, which identified a heterozygous pathogenic variant in the PPOX gene (c.567A>C, p.Gln189His), confirming VP. Her mild acute attack was managed successfully with intravenous glucose and safe psychotropic agents, alongside adjusted glycemic targets to prevent catabolism. This case underscores that VP can present atypically without skin lesions. It highlights the importance of considering VP in diabetic patients with unexplained neurovisceral symptoms and demonstrates that mild attacks can be managed with tailored supportive care.
Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.
Variegate porphyria, caused by monoallelic variants in PPOX (protoporphyrinogen oxidase), leads to acute visceral attacks and skin photosensitivity, presenting as blistering and fragility; a more severe phenotype occurs with rare biallelic variants. This results from accumulation of intermediate porphyrins, such as 5'-aminolevulenic acid, near the skin surface, oxidized by sunlight and releasing free radicals. We hypothesized that reduced PPOX expression in keratinocytes intrinsically contributes to the porphyria phenotype. We created 2 short hairpin RNA-knockdown cell lines, KD1 and KD2 (50 and 25% residual expression), to simulate haploinsufficiency and biallelic hypomorphic expression. Both knockdown lines showed significantly reduced proliferation, with KD2 also having reduced migration. Keratinocytes were treated with 5'-aminolevulenic acid and deferoxamine (an iron chelator) to accumulate porphyrins, confirmed by increased fluorescent downstream porphyrins, which caused reduced proliferation, oxidative stress, and a lower reduced glutathione/oxidized glutathione ratio. Both clones expressed reduced differentiation in monolayer and 3-dimensional cultures, with KD2 showing reduced epidermal thickness, whereas porphyrin accumulation further disrupted stratification and differentiation. We propose an updated paradigm of porphyria skin manifestations: porphyrin excitation beneath the skin is facilitated by a thinner, less differentiated barrier. These 3-dimensional skin models offer a translational platform to investigate therapeutic strategies targeting porphyrin accumulation and barrier restoration in porphyria.
Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.
Genetic porphyrias, namely in their homozygous form, may cause a neurodevelopmental disorder which may even be the clinically dominant feature. But few cases have been described so far. The majority of neurodevelopmental disorders has a genetic cause and there is a big overlap of the clinical presentations due to unspecific symptoms. Additional specific clinical symptoms may enable a phenotypically orientated biochemical and genetic diagnostic approach. Skin lesions occurring in the neonatal period or the first years of life in a child with developmental delay may hint at a genetic porphyria. We describe the clinical features, biochemical and genetic findings in two new cases, sister and brother, of biallelic resp. homozygous variegate porphyria and review all case reports published until December 2023 after systematic searches in PubMed, MEDLINE, Cochrane and Web of Science. A total of 19 patients with biallelic, largely homozygous variegate porphyria have so far been reported of whom 16 were confirmed by genetic testing. In 11 patients, neurodevelopmental problems were reported in addition to skin lesions. Additional symptoms were nystagmus, epileptic seizures as well as sensory neuropathy. Only 2 patients received a brain MRI showing a severe deficit of myelination at the age of 2-3 years suggesting that neurodevelopmental delay in HVP may be associated to hypomyelination. This article adds two cases of a genetic porphyria with developmental delay and epilepsy as well as skin lesions. In our two cases biochemistry revealed a porphyria and consecutive molecular genetic testing showed in each case a homozygous variant in the PPOX gene, which corresponds to a variegate porphyria. Interestingly, magnetic resonance imaging of the brain revealed a severe myelin deficit suggesting hypomyelination in both children. In children with a developmental disorder of unknown cause and early childhood epilepsy, an abnormally light-sensitive or fragile skin may indicate a primary genetic porphyria. Especially variegate porphyria with biallelic variants may present as neurodevelopmental disorder with hypomyelination.
Acute hepatic porphyria in Denmark; a retrospective study.
Acute hepatic porphyria (AHP) constitutes a class of rare diseases caused by reduced function in enzymes of the heme-biosynthetic pathway. AHP includes acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP) and the extremely rare δ-aminolevulinic-dehydrase deficiency porphyria (ADP). This retrospective study describes characteristics of the Danish AHP patient population. Department of Endocrinology at Odense University Hospital serves as national AHP center. We performed a 5-year retrospective description of our AHP cohort using electronic patient journals. We included general symptoms, number of acute attacks, hospitalization rates, long-term sequelae and symptoms, and grouped patients according to creatinine-adjusted urinary baseline excretion (i.e., outside attacks) of the porphyrin precursor porphobilinogen (PBG) in normal-, moderate- and high-excretion and unknown. The cohort contained 129 AHP patients, hereof 100 AIP, 12 HCP and 17 VP. Median age was 46.3 (32.1-62.0) years, and 85 (65.9%) were female. During the 5-years, 38 (29.5%) patients experienced symptoms. Hereof, 20 patients were hospitalized with acute attacks or chronic symptoms and treated with human hemin (n = 14). Most frequently reported symptoms were abdominal pain, nausea, vomiting, and neurological disturbances. Symptoms were more common in patients with high PBG baseline excretion (n = 39) as compared to those with moderate (n = 31) or normal (n = 40) PBG excretion (p = 0.002). Furthermore, females dominated the symptomatic group (68.4%). As reported internationally, AHP is more commonly diagnosed and symptomatic in women, and AIP was the most frequent AHP subtype. Those with an elevated urinary baseline PBG secretion were more likely to report AHP-related symptoms.
Publicações recentes
Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.
A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.
Acute hepatic porphyrias.
Neurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.
Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.
📚 EuropePMC196 artigos no totalmostrando 108
Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.
Gastroenterology reportA type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.
Frontiers in endocrinologyAcute hepatic porphyrias.
Porto biomedical journalNeurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.
CureusReduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.
The Journal of investigative dermatologyAcute psychosis in variegate porphyria: a case report.
Neuropsychiatrie : Klinik, Diagnostik, Therapie und Rehabilitation : Organ der Gesellschaft Osterreichischer Nervenarzte und PsychiaterCoexistence of Mycosis Fungoides and Photosensitive or Autoimmune Diseases. The Therapeutic Challenge: A retrospective Case Series from a Tertiary Referral Center.
The Israel Medical Association journal : IMAJDiagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report.
The American journal of case reportsBlistering photosensitivity in an icteric patient-think of variegate porphyria.
QJM : monthly journal of the Association of PhysiciansNeurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.
Orphanet journal of rare diseasesAcute hepatic porphyria in Denmark; a retrospective study.
Orphanet journal of rare diseasesA 38-year-Old Woman With Flaccid Tetraparesis after Presenting With Abdominal Pain.
The NeurohospitalistHepatocellular Carcinoma in Acute Hepatic Porphyria: A Meta-Analysis of Observational Studies.
Digestive diseases and sciencesTherapeutic approach to acute crises of hepatic porphyrias.
Revista clinica espanola[An overview of porphyrias].
Dermatologie (Heidelberg, Germany)Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Seminars in liver diseasePICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.
Revista clinica espanolaCase-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management.
Liver international : official journal of the International Association for the Study of the LiverInsight into the Role of an α-Helix Cluster in Protoporphyrinogen IX Oxidase.
BiochemistryClinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.
Orphanet journal of rare diseasesSunlight's Dark Side: A Case of Subtle Skin Lesions and Hyperpigmentation.
GastroenterologyFurther Characterization of the Neuroendocrine Phenotype Associated With the PPOX-Related Variegate Porphyria.
Pediatric neurologyPorphyrias: Uncommon disorders masquerading as common childhood diseases.
Journal of postgraduate medicineKey terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.
Journal of inherited metabolic diseaseA 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications.
Rambam Maimonides medical journalAGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
GastroenterologyAn Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies.
Turkish archives of pediatricsRisk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.
Journal of inherited metabolic diseaseSystematic review of the prevalence and incidence of the photodermatoses with meta-analysis of the prevalence of polymorphic light eruption.
Journal of the European Academy of Dermatology and Venereology : JEADVCase Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy.
Frontiers in geneticsGeneration and characterization of human U-2 OS cell lines with the CRISPR/Cas9-edited protoporphyrinogen oxidase IX gene.
Scientific reportsA 9-year-old girl with blisters on the hands and face: An early presentation of variegate porphyria.
Pediatric dermatologyDevelopment and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Journal of inherited metabolic diseaseTherapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know.
Diagnostics (Basel, Switzerland)Neurological Manifestations of Acute Porphyrias.
Current neurology and neuroscience reportsUpdate on the diagnosis and management of the autosomal dominant acute hepatic porphyrias.
Journal of clinical pathologyGivosiran for the treatment of acute hepatic porphyria.
Expert review of clinical pharmacologyChallenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives.
Orphanet journal of rare diseasesFlumioxazin, a PPO inhibitor: A weight-of-evidence consideration of its mode of action as a developmental toxicant in the rat and its relevance to humans.
ToxicologyA case report on variegate porphyria after etonogestrel placement.
JAAD case reportsLong-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.
Molecular genetics and metabolism reportsA boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.
Italian journal of pediatricsRisk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
Journal of internal medicineMolecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX.
Biochemical and biophysical research communicationsHeterologous expression and purification of recombinant human protoporphyrinogen oxidase IX: A comparative study.
PloS oneABCB6 polymorphisms are not overly represented in patients with porphyria.
Blood advancesAcute porphyrias - A neurological perspective.
Brain and behaviormRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks.
Molecular therapy. Nucleic acidsExpert consensus statement on acute hepatic porphyria in Belgium.
Acta clinica BelgicaThe hydrogen bonding network involved Arg59 in human protoporphyrinogen IX oxidase is essential for enzyme activity.
Biochemical and biophysical research communicationsClinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients.
Molecular genetics & genomic medicineAcute Variegate Porphyria in a Professional Bodybuilder after Starting a High-protein Diet and Treatment with Testosterone.
Acta dermato-venereologicaGreater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias.
Molecular genetics and metabolism reportsVariegate Porphyria Triggered by Acute Hepatitis A Infection.
European journal of case reports in internal medicineClinical features of genetic cutaneous porphyrias in Israel: A nationwide survey.
Photodermatology, photoimmunology & photomedicineComparative characterization of sun exposed and sun protected skin-derived mesenchymal-like stem cells in variegate porphyria and healthy individuals.
Photodermatology, photoimmunology & photomedicineNovel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.
Clinica chimica acta; international journal of clinical chemistryHepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.
Hepatology (Baltimore, Md.)Hyperhomocysteinemia in patients with acute porphyrias: A potentially dangerous metabolic crossroad?
European journal of internal medicineTwo new mutations in the PPOX gene in a patient with variegate porphyria.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGSick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.
Orphanet journal of rare diseasesPenetrance and predictive value of genetic screening in acute porphyria.
Molecular genetics and metabolismAcute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families.
Annals of hematologyPorphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction.
Molecular genetics and metabolismNeurological and neuropsychiatric manifestations of porphyria.
The International journal of neuroscienceHeme biosynthesis and the porphyrias.
Molecular genetics and metabolismEpidemiology of cutaneous porphyria in Israel: a nationwide cohort study.
Journal of the European Academy of Dermatology and Venereology : JEADVA next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Scandinavian journal of clinical and laboratory investigationClinical Guide and Update on Porphyrias.
GastroenterologyInternational Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Genetics in medicine : official journal of the American College of Medical GeneticsPathogenesis and clinical features of the acute hepatic porphyrias (AHPs).
Molecular genetics and metabolism[A case report of variegate porphyria maenisfeseting as phototoxicity].
Zhonghua nei ke za zhiAcute Hepatic Porphyrias: Review and Recent Progress.
Hepatology communicationsMurine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Molecular genetics and metabolismNonconvulsive status epilepticus secondary to acute porphyria crisis.
Epilepsy & behavior case reportsRecent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Molecular genetics and metabolismPosterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report.
CureusMolecular analysis of 19 Spanish patients with mixed porphyrias.
European journal of medical geneticsHepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.
Molecular genetics and metabolismAcute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Molecular genetics and metabolismSugammadex and amino acid infusion can contribute to safe anesthetic management of variegate porphyria.
JA clinical reportsPorphyria: What Is It and Who Should Be Evaluated?
Rambam Maimonides medical journalNovel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.
EndocrineAn overview of the cutaneous porphyrias.
F1000ResearchNovel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria.
The Journal of dermatologyAcute hepatic porphyria and cancer risk: a nationwide cohort study.
Journal of internal medicineThe Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Annals of internal medicineAn Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete.
Clinical journal of sport medicine : official journal of the Canadian Academy of Sport MedicinePorphyria cutanea tarda: an intriguing genetic disease and marker.
International journal of dermatologyA Unique Neuropsychiatric Syndrome in Variant Hereditary Coproporphyria: Case Report and Review of the Literature.
Journal of hematologyUpdate review of the acute porphyrias.
British journal of haematologyElective cholecystectomy performed on patient with variegate porphyria-Propofol-based total intravenous anesthesia with target-controlled infusion.
Journal of clinical anesthesiaHepatic porphyria: A narrative review.
Indian journal of gastroenterology : official journal of the Indian Society of GastroenterologyAcute Porphyria Presenting as Major Trauma: Case Report and Literature Review.
The Journal of emergency medicineHaem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.
PloS oneTransient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient.
Internal medicine (Tokyo, Japan)The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.
Blood cells, molecules & diseasesHaplotype Study in Argentinean Variegate Porphyria Patients.
Human heredityAcute variegate porphyria presenting with reversible cerebral vasoconstriction.
Clinical neurology and neurosurgeryCutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989-2013.
Acta dermato-venereologicaSafe use of perampanel in a carrier of variegate porphyria.
Practical neurologySevere porphyric neuropathy--importance of screening for porphyria in Guillain-Barré syndrome.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde[Neurocutaneous porphyrias].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteCharacterisation of the flavin adenine dinucleotide binding region of Myxococcus xanthus protoporphyrinogen oxidase.
Biochemistry and biophysics reportsButafenacil: A positive control for identifying anemia- and variegate porphyria-inducing chemicals.
Toxicology reportsPorphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Current protocols in human geneticsFitzPatrick Lecture: King George III and the porphyria myth - causes, consequences and re-evaluation of his mental illness with computer diagnostics.
Clinical medicine (London, England)Characterization of variegate porphyria mutations using a minigene approach.
JIMD reportsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.
- A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.
- Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.
- Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.
- Acute hepatic porphyria in Denmark; a retrospective study.
- Acute hepatic porphyrias.
- Neurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79473(Orphanet)
- OMIM OMIM:176200(OMIM)
- MONDO:0008297(MONDO)
- GARD:7848(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q275385(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
