Grupo de doenças metabólicas causadas pela deficiência de uma das diversas enzimas hepáticas na via biossintética do heme. São caracterizados pelo acúmulo e aumento da excreção de porfirinas ou seus precursores. As características clínicas incluem sintomas neurológicos (porfiria aguda intermitente), lesões cutâneas devido à fotossensibilidade (porfiria cutânea tardia) ou ambos (coproporfiria hereditária). As porfirias hepáticas podem ser hereditárias ou adquiridas como resultado de toxicidade aos tecidos hepáticos.
Introdução
O que você precisa saber de cara
Grupo de doenças metabólicas causadas pela deficiência de uma das diversas enzimas hepáticas na via biossintética do heme. São caracterizados pelo acúmulo e aumento da excreção de porfirinas ou seus precursores. As características clínicas incluem sintomas neurológicos (porfiria aguda intermitente), lesões cutâneas devido à fotossensibilidade (porfiria cutânea tardia) ou ambos (coproporfiria hereditária). As porfirias hepáticas podem ser hereditárias ou adquiridas como resultado de toxicidade aos tecidos hepáticos.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 79 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 199 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição.
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.
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin
Cell membrane
Hemochromatosis 1
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen
Cytoplasm, cytosol
Acute hepatic 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. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
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.
Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway
Mitochondrion intermembrane space
Hereditary coproporphyria
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. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces.
As part of the heme biosynthetic pathway, catalyzes the sequential polymerization of four molecules of porphobilinogen to form hydroxymethylbilane, also known as preuroporphyrinogen (PubMed:18004775, PubMed:18936296, PubMed:19138865, PubMed:23815679). Catalysis begins with the assembly of the dipyrromethane cofactor by the apoenzyme from two molecules of porphobilinogen or from preuroporphyrinogen. The covalently linked cofactor acts as a primer, around which the tetrapyrrole product is assemble
Cytoplasm, cytosol
Acute intermittent 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. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
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.
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 sequential decarboxylation of the four acetate side chains of uroporphyrinogen to form coproporphyrinogen and participates in the fifth step in the heme biosynthetic pathway (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:18004775, PubMed:21668429). Isomer I or isomer III of uroporphyrinogen may serve as substrate, but only coproporphyrinogen III can ultimately be converted to heme (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:21668429). In vitro also decarb
Cytoplasm, cytosol
Familial porphyria cutanea tarda
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. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
233 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
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 hepática
Centros de Referência SUS
21 centros habilitados pelo SUS para Porfiria hepática
Centros para Porfiria hepática
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
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1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
10 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.
Probable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report.
Acute hepatic porphyrias are rare metabolic disorders that often present with recurrent neurovisceral symptoms and are frequently misdiagnosed. Definitive diagnosis relies on biochemical and genetic testing, which may be unavailable in resource-limited settings. We report a 36-year-old woman with recurrent episodes of severe colicky abdominal pain associated with vomiting and bowel disturbances, with minimal abdominal findings and repeatedly normal routine investigations. During an acute episode, urinary screening demonstrated a positive Hoesch test for porphobilinogen (PBG). Spectrophotometric analysis of urine total porphyrins revealed a Soret peak at approximately 405 nm, and the total urine porphyrin concentration was elevated at 349.635 nmol/L (reference: <300 nmol/L). Alternative causes of elevated urinary porphyrins were excluded clinically and biochemically. Due to the unavailability of intravenous hemin, the acute episode was managed with analgesia, supportive care, and carbohydrate, leading to symptom resolution. The patient was counselled on the avoidance of precipitating factors and long-term surveillance. This case illustrates the diagnostic value of clinical suspicion supported by basic biochemical testing in identifying probable acute hepatic porphyria in a resource-limited setting.
Hyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria.
Acute hepatic porphyrias (AHPs) are rare metabolic disorders of heme biosynthesis that present with neurovisceral symptoms such as abdominal pain, vomiting, and hyponatremia. Diagnosis is frequently delayed due to the nonspecific nature of the symptoms and insufficient awareness of the disease. A 23-year-old woman presented with diffuse abdominal pain, vomiting, myalgias, and severe hyponatremia (Na+ 104 mmol/L). Initial workup during hospitalization was inconclusive. Given the neurovisceral presentation and features of the syndrome of inappropriate antidiuretic hormone secretion (SIADH), including hypoosmolar serum and inappropriately concentrated urine, acute porphyria was suspected. Screening with a positive Hoesch test was performed, and urine samples for porphyrin precursor analysis were collected before discharge. After discharge, results confirmed markedly elevated urinary porphobilinogen and delta-aminolevulinic acid (ALA), confirming the diagnosis of acute hepatic porphyria. She was followed up in internal medicine and metabolic diseases. Despite preventive measures, she experienced a new acute attack requiring intravenous hemin. This case highlights the diagnostic challenge of acute porphyria. Hyponatremia, often due to SIADH, and elevated creatine kinase (CK) levels can be key biochemical clues. Early suspicion and targeted testing are essential for diagnosis and timely therapy. Acute hepatic porphyria should be considered in young patients with unexplained abdominal pain, vomiting, and severe hyponatremia. Early recognition, prompt biochemical testing, and appropriate management are key to improving outcomes.
Hepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review.
Hepatic porphyria is an autosomal dominant disorder characterized by a deficiency in enzymes involved in hepatic porphyrin metabolism. Disruptions in this metabolic pathway can be precipitated by various factors, including physical exertion, psychological stress, fasting, infections, and drug withdrawal. Clinically, the condition manifests as episodic lower abdominal colic and a range of neuropsychiatric symptoms. A 74-year-old male farmer presented with a four-month history of intermittent abdominal pain, abdominal distension, generalized weakness, and anorexia. The diagnosis of hepatic porphyria was established through a combination of imaging studies, laboratory investigations, liver biopsy, and genetic testing, which revealed a pathogenic c.587G>T (p.C196F) mutation in the FECH gene. The patient exhibited mild cutaneous lesions along with significant abdominal pain, abdominal distension, accompanied by constipation, nausea, and vomiting. This case highlights the diagnostic challenges and poor prognosis of hepatic porphyria when specific therapies are unavailable. Early recognition and genetic confirmation are vital for guiding management, and clinicians should suspect porphyria in patients with unexplained abdominal pain and liver dysfunction.
Development and validation of an LC-MS/MS method for measurement of porphobilinogen in urine.
Measurement of urinary porphobilinogen (PBG) is used to diagnose acute porphyria, which results from disorders of heme biosynthesis. In response to clinical demand and to provide optimal patient care, we developed a simple and sensitive liquid chromatography tandem mass spectrometry (LC-MS/MS) assay for measurement of PBG in urine. Aliquots (50 µL) of urine were spiked with a stable isotope-labeled internal standard (13C2,15N-PBG); PBG was extracted using anion exchange solid phase extraction, and the extracts were analyzed using reverse phase chromatographic separation with mass spectrometry detection. Injection-to-injection time was 5.5 min. Measured concentrations were normalized to creatinine (Cr) concentration in random specimens; PBG excretion per day was calculated for 24-h urine collections. Mean recovery was 99.7 %; total imprecision of analysis was < 16 %. Limit of quantification of the method was 0.1 µmol/L and the upper limit of linearity was 100 µmol/L. Reference intervals (RI) for the ratio of PBG to Cr concentration in urine samples from apparently healthy adults were < 0.19 and < 0.17 mmol PBG/mol Cr for women and men, respectively. The RI for 24-h excretion established using LC-MS/MS was 0.39-1.40 µmol/24-h. Percent positivity determined following implementation of the LC-MS/MS method (7.6 %) compared well with the positivity rate of the spectrophotometric method (7.7 %). This LC-MS/MS method has sufficient specificity and sensitivity for analysis of urinary PBG in pathologic samples and samples from healthy subjects. RIs for PBG in random and 24-h urine collections were established and the clinical performance of the assay was evaluated.
Publicações recentes
Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.
Probable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report.
Hyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria.
Hepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review.
Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations.
📚 EuropePMC336 artigos no totalmostrando 158
Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.
Orphanet journal of rare diseasesProbable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report.
CureusHyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria.
CureusHepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review.
Iranian journal of pathologyRecommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations.
Orphanet journal of rare diseasesCommon features of rare disease patients in the emergency department: a systematised literature review.
Orphanet journal of rare diseasesNeurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.
CureusPediatric Liver Diseases: Next-Generation Therapies.
Clinics in liver diseaseAcute Intermittent Porphyria: A Rare Cause of Postoperative Abdominal Pain and Hyponatremia.
CureusDevelopment and validation of an LC-MS/MS method for measurement of porphobilinogen in urine.
Clinica chimica acta; international journal of clinical chemistryScreening for acute hepatic porphyria in postural tachycardia syndrome.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyA female adolescent with hyponatremia, seizure, rhabdomyolysis, arterial hypertension and neuropsychiatric symptoms.
Wiener medizinische Wochenschrift (1946)Features of Undiagnosed Abdominal Pain and Diagnostic Status of Acute Hepatic Porphyria in Japan: A Retrospective Study.
International journal of medical sciencesA Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.
Liver international : official journal of the International Association for the Study of the LiverAxonal Neuropathy in Hepatic Porphyria Should Not be Confused With Guillain-Barre Syndrome.
The NeurohospitalistAcute Hepatic Porphyria vs. Guillain-Barré Syndrome: Response to "Axonal Neuropathy in Hepatic Porphyria Should Not be Confused With Guillain-Barre Syndrome".
The NeurohospitalistEfficacy and safety of givosiran in Japanese patients with acute hepatic porphyria: clinical findings from an expanded access study.
Scientific reportsUnmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome.
BMC neurologyAcute Hepatic Porphyria Presenting as Guillain-Barré Syndrome: Importance of Early Recognition and Screening.
The NeurohospitalistCharacterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá, Colombia (2013-2023).
The Journal of international medical researchAcute hepatic porphyria in Denmark; a retrospective study.
Orphanet journal of rare diseasesPractical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria.
MetabolitesAcute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension.
Medical sciences (Basel, Switzerland)Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study.
Molecular genetics and metabolism reportsAcute Intermittent Porphyria in an Adolescent Patient: Diagnostic and Treatment Challenges.
CureusWorsening abdominal pain leading to false laparotomy: A case of acute intermittent porphyria.
JPMA. The Journal of the Pakistan Medical AssociationNontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patients.
Journal of inherited metabolic diseaseHepatocellular Carcinoma in Acute Hepatic Porphyria: A Meta-Analysis of Observational Studies.
Digestive diseases and sciencesLong-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.
Orphanet journal of rare diseasesWill the Institute for Clinical and Economic Review's Shared Savings Approach Decrease Value-Based Prices Most for the Most Severe Diseases?
Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes ResearchTherapeutic approach to acute crises of hepatic porphyrias.
Revista clinica espanolaInjectable hydrogel encapsulating siMMP13 with anti-ROS and anti-apoptotic functions for osteoarthritis treatment.
Journal of nanobiotechnologyA Severe Reaction After Phototherapy in a Neonate With X-Linked Protoporphyria.
PediatricsEffectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation.
Molecular genetics and metabolism reportsHigh disease burden and healthcare resource usage in patients with acute porphyria-A population-based analysis.
Liver international : official journal of the International Association for the Study of the LiverElevated homocysteine is negatively correlated with plasma cystathionine β-synthase activity in givosiran-treated patients.
JIMD reportsReducing diagnostic delays in acute hepatic porphyria using health records data and machine learning.
Journal of the American Medical Informatics Association : JAMIANeurofilament light chain as a biomarker for acute hepatic porphyrias.
Frontiers in neurologyPICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.
Revista clinica espanolaPreventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.
Molecular genetics and metabolism reportsHereditary Coproporphyria in Which the Patient's Course Improved after the Discontinuation of Givosiran.
Internal medicine (Tokyo, Japan)RNA therapeutics for metabolic disorders.
Progress in molecular biology and translational scienceNanoparticles and siRNA: A new era in therapeutics?
Pharmacological researchObstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management.
Clinical and experimental gastroenterologyClinical 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 diseasesA high urinary urobilinogen/serum total bilirubin ratio indicates acute hepatic porphyria in patients with abdominal pain.
Scientific reportsThe Hepatic Porphyrias: Revealing the Complexities of a Rare Disease.
Seminars in liver diseaseAcute Porphyria: An Unusual Case Of Quadriparesis, Hypertension, Recurrent Severe Cyclic Abdominal Pain, And Seizures.
JPMA. The Journal of the Pakistan Medical AssociationThe burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study.
Medicina clinicaDiagnosis, evaluation and monitoring of acute hepatic porphyria.
Medicina clinicaTherapeutic options for the management of acute hepatic porphyria.
Medicina clinicaImproved Survival in At-Risk Patients Undergoing Surveillance for Hepatocellular Carcinoma - A Nationwide Swedish Register-Based Study.
Journal of hepatocellular carcinomaTargeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin.
Pharmacological reviewsReducing diagnostic delays in Acute Hepatic Porphyria using electronic health records data and machine learning: a multicenter development and validation study.
medRxiv : the preprint server for health sciencesNutritional Interventions with Bacillus coagulans Improved Glucose Metabolism and Hyperinsulinemia in Mice with Acute Intermittent Porphyria.
International journal of molecular sciencesAcute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Molecular genetics and metabolismUpdate on the Porphyrias.
Annual review of medicineEfficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial.
Journal of hepatologyEmergence of Small Interfering RNA-Based Gene Drugs for Various Diseases.
ACS omegaIntrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report.
Journal of clinical medicineMaternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study.
Journal of inherited metabolic diseaseOrphan Drugs in Neurology-A Narrative Review.
Journal of personalized medicineBrazilian registry of patients with porphyria: REBRAPPO study.
Orphanet journal of rare diseasesPharmacokinetic-pharmacodynamic model of urinary δ-aminolevulinic acid reduction after givosiran treatment in patients with acute hepatic porphyria.
CPT: pharmacometrics & systems pharmacologyChemistry, structure and function of approved oligonucleotide therapeutics.
Nucleic acids researchPathogenesis of acute encephalopathy in acute hepatic porphyria.
Journal of neurologyA 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications.
Rambam Maimonides medical journalQuantifying the impact of symptomatic acute hepatic porphyria on well-being via patient-reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study.
JIMD reportsClinical features of Japanese patients with acute hepatic porphyria.
JIMD reportsPopulation Pharmacokinetic Analysis of the RNAi Therapeutic Givosiran in Patients with Acute Hepatic Porphyria.
Clinical pharmacokinetics[Acute hepatic porphyrias].
Medizinische Klinik, Intensivmedizin und NotfallmedizinAn Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies.
Turkish archives of pediatricsPorphyria: a case report.
Journal of medical case reportsMortality in Pedigrees with Acute Intermittent Porphyria.
Life (Basel, Switzerland)Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.
Journal of inherited metabolic diseasePrevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic Vomiting Syndrome and Overlap in Clinical Symptoms.
Digestive diseases and sciencesSmall interfering RNA: Discovery, pharmacology and clinical development-An introductory review.
British journal of pharmacologyALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias.
BiochemistryNew-onset and relapsed liver diseases following COVID-19 vaccination: a systematic review.
BMC gastroenterologyEslicarbazepine acetate is porphyrogenic and should be used with caution in patients with the acute hepatic porphyrias.
Frontiers in pharmacologyLong-term Remission of Acute Intermittent Porphyria Treated with Gonadotropin-Releasing Hormone Analogues and Estrogen: a Case Report.
Clinical laboratoryA case of pink urine associated with abdominal pain crisis.
Annales de biologie cliniqueEXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.
Journal of inherited metabolic diseaseDisease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.
Orphanet journal of rare diseasesTherapeutic siRNA: State-of-the-Art and Future Perspectives.
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapyHyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.
Expert review of gastroenterology & hepatologyPatient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts.
Advances in therapyClinical study applying machine learning to detect a rare disease: results and lessons learned.
JAMIA openSpotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy.
Drug design, development and therapyGivosiran 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 diseasesLong-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.
Molecular genetics and metabolism reportsHereditary Coproporphyria Mimicking Guillain-Barré Syndrome After COVID-19 Infection.
Cureus[Interfering RNA and antisense oligonucleotide treatments currently available in France: An update].
Bulletin de l'Academie nationale de medecineRisk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
Journal of internal medicineRNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria.
Journal of internal medicineRed urine and a red herring - diagnosing rare diseases in the light of the COVID-19 pandemic.
Zeitschrift fur GastroenterologieABCB6 polymorphisms are not overly represented in patients with porphyria.
Blood advancesEfficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study.
Liver international : official journal of the International Association for the Study of the LiverPorphyrias in the Age of Targeted Therapies.
Diagnostics (Basel, Switzerland)Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations.
Frontiers in neuroscienceAcute Hepatic Porphyrias: "Purple Flags"-Clinical Features That Should Prompt Specific Diagnostic Testing.
The American journal of the medical sciencesPink urine as an inkling for a diagnostic dilemma: acute hepatic porphyria.
BMJ case reportsA Drug-Drug Interaction Study Evaluating the Effect of Givosiran, a Small Interfering Ribonucleic Acid, on Cytochrome P450 Activity in the Liver.
Clinical pharmacology and therapeuticsAcute hepatic porphyria and maternal health: Clinical and biochemical follow-up of 44 pregnancies.
Journal of internal medicineNeurology of the acute hepatic porphyrias.
Journal of the neurological sciencesExpert consensus statement on acute hepatic porphyria in Belgium.
Acta clinica BelgicaMetastases-Like Liver Lesions in Two Different Types of Porphyria - Porphyria Cutanea Tarda (PCT) and Acute Hepatic Porphyria (AHP) - and the Role of CEUS.
Ultraschall in der Medizin (Stuttgart, Germany : 1980)Estimating the broader fiscal consequences of acute hepatic porphyria (AHP) with recurrent attacks in Belgium using a public economic analytic framework.
Orphanet journal of rare diseases[New therapeutic option for acute hepatic porphyrias].
Deutsche medizinische Wochenschrift (1946)Multiple roles of haem in cystathionine β-synthase activity: implications for hemin and other therapies of acute hepatic porphyria.
Bioscience reportsThe Nonclinical Disposition and Pharmacokinetic/Pharmacodynamic Properties of N-Acetylgalactosamine-Conjugated Small Interfering RNA Are Highly Predictable and Build Confidence in Translation to Human.
Drug metabolism and disposition: the biological fate of chemicalsTreatment with assisted reproduction technologies in women with acute hepatic porphyria.
Acta obstetricia et gynecologica ScandinavicaNonclinical Pharmacokinetics and Absorption, Distribution, Metabolism, and Excretion of Givosiran, the First Approved N-Acetylgalactosamine-Conjugated RNA Interference Therapeutic.
Drug metabolism and disposition: the biological fate of chemicalsDevelopment of siRNA Therapeutics for the Treatment of Liver Diseases.
Methods in molecular biology (Clifton, N.J.)Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study.
Orphanet journal of rare diseasesAcute hepatic porphyria and anaesthesia: a practical approach to the prevention and management of acute neurovisceral attacks.
BJA educationGivosiran: A Review in Acute Hepatic Porphyria.
DrugsBiochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians.
The American journal of the medical sciencesGivosiran to treat acute porphyria.
Drugs of today (Barcelona, Spain : 1998)Normal reference ranges for urinary δ-aminolevulinic acid and porphobilinogen levels.
JIMD reports5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
Molecular genetics and metabolismHome Treatment of Older People with Symptomatic SARS-CoV-2 Infection (COVID-19): A structured Summary of a Study Protocol for a Multi-Arm Multi-Stage (MAMS) Randomized Trial to Evaluate the Efficacy and Tolerability of Several Experimental Treatments to Reduce the Risk of Hospitalisation or Death in outpatients aged 65 years or older (COVERAGE trial).
TrialsCost savings with hemin versus givosiran for the treatment of patients with acute intermittent porphyria (AIP).
Journal of medical economicsPrevalence and Characteristics of Abdominal Pain in the United States.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationDetecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria.
PloS oneDelivery of Oligonucleotides to the Liver with GalNAc: From Research to Registered Therapeutic Drug.
Molecular therapy : the journal of the American Society of Gene TherapyEslicarbazepine for focal epilepsy and acute intermittent porphyria.
Epileptic disorders : international epilepsy journal with videotapePhase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
The New England journal of medicineThe clinical importance of early acute hepatic porphyria diagnosis: a national cohort.
Internal and emergency medicineSick 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 metabolismGivosiran: First Approval.
DrugsPharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid, Givosiran, in Patients With Acute Hepatic Porphyria.
Clinical pharmacology and therapeuticsAcute Intermittent Porphyria: Current Perspectives And Case Presentation.
Therapeutics and clinical risk managementEXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.
Hepatology (Baltimore, Md.)Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria.
Molecular genetics and metabolism reportsEuropean Association for the Study of the Liver The International Liver Congress 2019.
P & T : a peer-reviewed journal for formulary managementPilot study of mitochondrial bioenergetics in subjects with acute porphyrias.
Molecular genetics and metabolismMolecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
Clinical geneticsFeasibility of cellular bioenergetics as a biomarker in porphyria patients.
Molecular genetics and metabolism reportsBenefits of prophylactic heme therapy in severe acute intermittent porphyria.
Molecular genetics and metabolism reportsLoss of Wnt Secretion by Macrophages Promotes Hepatobiliary Injury after Administration of 3,5-Diethoxycarbonyl-1, 4-Dihydrocollidine Diet.
The American journal of pathologyAcute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Molecular genetics and metabolismMultinodular fatty change in the liver in three patients with chronic hepatic porphyria: Contribution of sonography to the diagnosis.
Journal of clinical ultrasound : JCUThe association between chemical-induced porphyria and hepatic cancer.
Toxicology researchRecurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.
Journal of internal medicine[CME: Acute Intermittent Porphyria: When to Think of It? What Must be Checked? How to Treat?].
PraxisHexachlorobenzene as a persistent organic pollutant: Toxicity and molecular mechanism of action.
Pharmacological reports : PRAcute hepatic porphyria and cancer risk: a nationwide cohort study.
Journal of internal medicineAcute intermittent porphyria: a test of clinical acumen.
Journal of community hospital internal medicine perspectivesAcute hepatic porphyrias: Recommendations for evaluation and long-term management.
Hepatology (Baltimore, Md.)Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.
JIMD reportsWhat hematologists need to know about acute hepatic porphyria.
Clinical advances in hematology & oncology : H&OHepatic porphyria: A narrative review.
Indian journal of gastroenterology : official journal of the Indian Society of GastroenterologyExperiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study.
Molecular genetics and metabolismTHINK PORPHYRIA: CASE REPORT AND REVIEW OF LITERATURE.
Eksperimental'naia i klinicheskaia gastroenterologiia = Experimental & clinical gastroenterologyA metabolomic perspective of griseofulvin-induced liver injury in mice.
Biochemical pharmacologyAssociações
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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.
- Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.
- Probable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report.
- Hyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria.
- Hepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review.
- Development and validation of an LC-MS/MS method for measurement of porphobilinogen in urine.
- Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:659694(Orphanet)
- MONDO:0002520(MONDO)
- GARD:19255(GARD (NIH))
- 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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