A porfiria intermitente aguda é a forma mais comum e mais grave das porfirias hepáticas agudas. Ela é caracterizada pelo aparecimento de crises que atingem os nervos e órgãos internos, sem manifestações na pele.
Introdução
O que você precisa saber de cara
A porfiria intermitente aguda é a forma mais comum e mais grave das porfirias hepáticas agudas. Ela é caracterizada pelo aparecimento de crises que atingem os nervos e órgãos internos, sem manifestações na pele.
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
+ 26 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 61 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.
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.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
300 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 141 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 aguda intermitente
Centros de Referência SUS
21 centros habilitados pelo SUS para Porfiria aguda intermitente
Centros para Porfiria aguda intermitente
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
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Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
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Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
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Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
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Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
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NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
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Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
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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.
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Publicações mais relevantes
The Case of a 37-Year-Old Woman Presenting With Subacute Weakness and Paresthesias.
Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37-year-old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting of chronic abdominal pain, presyncope, weight loss, and neuropsychiatric symptoms. Examination revealed profound proximal arm weakness, sensory deficits, bulbar involvement, and autonomic features. MRI of the brain and spine and cerebrospinal fluid analysis were normal. Electrodiagnostic studies demonstrated a severe diffuse motor neurogenic process. Markedly elevated urinary porphobilinogen and aminolevulinic acid levels confirmed the diagnosis of acute intermittent porphyric neuropathy, supported by identification of a variant of uncertain significance in the HMBS gene. This case underscores the importance of considering AIP in patients with subacute motor-predominant neuropathy accompanied by abdominal pain and autonomic dysfunction, as early diagnosis enables timely treatment and improved outcomes.
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.
Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms. The heme precursors 5-aminolevulinic acid and porphobilinogen accumulate due to enzyme deficiency. Case reports of biallelic pathogenic hydroxymethylbilane synthase gene variants are very rare. This case report presents a severely affected boy with biallelic pathogenic hydroxymethylbilane synthase gene variants and includes literature overview of other case reports and experimental data. At the age of 2 years, a Caucasian boy with pathologic psychomotor development was diagnosed with biallelic pathogenic hydroxymethylbilane synthase gene variants. As in previous case reports, he did not exhibit symptoms of acute intermittent porphyria, but progressive cystic leukoencephalopathy and neurological decay. In his urine, 5-aminolevulinic acid and porphobilinogen were markedly elevated, but in cerebrospinal fluid just porphobilinogen. Data of human and animal studies indicate that neurologic symptoms of acute intermittent porphyria are caused by 5-aminolevulinic acid, which episodically accumulates from hepatic origin. Here, as long-term treatment, the inhibition of hepatic heme synthesis with the small interfering RNA givosiran has proven to be effective. In case of biallelic pathogenic hydroxymethylbilane synthase gene variants, the heme precursors 5-aminolevulinic acid or porphobilinogen originating from the liver or central nervous system could be causative, and absolute heme deficiency in the central nervous system is another hypothesis. However, parenterally administered heme, which is effective in acute intermittent porphyria, does not reach the central nervous system. In one case of biallelic pathogenic hydroxymethylbilane synthase gene variants, a liver transplantation did not lead to long-term benefit. For differential diagnosis of cystic leukoencephalopathy, biallelic pathogenic hydroxymethylbilane synthase gene variants should be considered. Its pathogenesis probably differentiates from acute intermittent porphyria. To date, there is no promising therapeutic approach.
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report.
Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A, p.Ala84Asp] despite liver transplantation. We demonstrate that porphyrin precursor levels are unchanged following liver transplantation in the periphery and that porphyrin precursor levels are constitutively elevated in the cerebrospinal fluid and are not reduced by haem arginate therapy. Liver transplantation and hepatically directed therapies are not likely to be effective for leukodystrophy due to biallelic HMBS variants. Alternative treatment strategies should be developed for effective management of this disorder. One-liner: Leukodystrophy due to biallelic HMBS variants is unlikely to be cured by liver transplantation or other hepatically directed therapies.
Tolvaptan: a potential rescue therapy for SIADH with refractory hyponatremia associated with acute intermittent porphyria.
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
Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome: a case report.
🥉 Relato de casoBiallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.
Tolvaptan: a potential rescue therapy for SIADH with refractory hyponatremia associated with acute intermittent porphyria.
🥈 ObservacionalClaw hands in acute intermittent porphyria.
Paraneoplastic hypoglycemia caused by hepatocarcinoma in a patient with acute intermittent porphyria.
📚 EuropePMC1.409 artigos no totalmostrando 199
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.
Journal of medical case reportsTolvaptan: a potential rescue therapy for SIADH with refractory hyponatremia associated with acute intermittent porphyria.
Journal of pediatric endocrinology & metabolism : JPEMClaw hands in acute intermittent porphyria.
Oxford medical case reportsParaneoplastic hypoglycemia caused by hepatocarcinoma in a patient with acute intermittent porphyria.
Journal of gastrointestinal and liver diseases : JGLDThe Case of a 37-Year-Old Woman Presenting With Subacute Weakness and Paresthesias.
Annals of clinical and translational neurologyLiver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report.
JIMD reportsA Curious Case of Abdominal Pain with Reset Osmostat and Rhabdomyolysis.
The Journal of the Association of Physicians of IndiaAcute hepatic porphyrias.
Porto biomedical journalAcute Necrotizing Pancreatitis Secondary to Acute Intermittent Porphyria: A Rare Clinical Association.
ACG case reports journalPorphyrias: Pathophysiology and clinical management recommendations for hepatologists.
Hepatology communicationsAcute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report.
Case reports in neurological medicineAcute Intermittent Porphyria: A Rare Cause of Postoperative Abdominal Pain and Hyponatremia.
CureusOral lipoteichoic and lipoic acids improve insulin resistance and body composition in porphyria mice on a high-carbohydrate diet.
Journal of physiology and biochemistry[Abdominal pain and severely impaired consciousness in a 19-year-old female patient].
Innere Medizin (Heidelberg, Germany)Managing Psychosis in Acute Intermittent Porphyria: A Case Report on Olanzapine Use.
CureusAn Adolescent Female With Disordered Eating and Cannabis Use Found to Have Acute Intermittent Porphyria.
Case reports in psychiatrySuccessful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria.
Case reports in transplantationClinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow-Up Study.
European journal of neurologyA New Generation of Porphyrias: A Case of Acute Intermittent Porphyria.
CureusUnmasked 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 NeurohospitalistUnmasking Osmotic Demyelination Syndrome/Extrapontine Myelinolysis in Acute Intermittent Porphyria: Preventable Complications-Challenges in Diagnosis and Management.
Annals of Indian Academy of NeurologyA novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings.
Frontiers in geneticsNutrition and rare diseases: a case study of patients with acute intermittent porphyria (AIP).
Nutrition & metabolismAcute 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.
MetabolitesA case report of acute intermittent porphyria presenting with reversible cerebral vasoconstriction syndrome.
MedicineAcute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension.
Medical sciences (Basel, Switzerland)An easily overlooked disease in the early stages: acute intermittent porphyria.
BMC neurologyPorphyric encephalopathy in a 15-year-old girl: A case report.
SAGE open medical case reportsSpecialty laboratory testing for chronic abdominal pain in irritable bowel syndrome.
Scandinavian journal of gastroenterologyDiagnosing Porphyria in a Female Patient With Diffuse Pelvic Pain: A Case Study.
CureusAcute Intermittent Porphyria in an Adolescent Patient: Diagnostic and Treatment Challenges.
CureusBaseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran.
Molecular genetics and metabolism reportsGivosiran: a targeted treatment for acute intermittent porphyria.
Hematology. American Society of Hematology. Education ProgramGerman Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran.
Journal of clinical medicineWorsening abdominal pain leading to false laparotomy: A case of acute intermittent porphyria.
JPMA. The Journal of the Pakistan Medical AssociationEffects of internet-based health education on patients with acute intermittent porphyria.
Orphanet journal of rare diseasesAcute Intermittent Porphyria: A Diagnostic Conundrum.
CureusNontargeted 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 sciencesHyponatremia associated with acute intermittent porphyria.
Kidney internationalNeuralgic amyotrophy presentation of acute intermittent porphyria: A case report.
Journal of the peripheral nervous system : JPNSHuman Chorionic Gonadotropin (hCG) Injections Exacerbating Acute Intermittent Porphyria in a 34-Year-Old Woman.
CureusPalliative Care Aspects of Acute Intermittent Porphyria - A Case Report.
Indian journal of palliative careSystemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates.
GutLong-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 diseasesTherapeutic approach to acute crises of hepatic porphyrias.
Revista clinica espanolaUnraveling Complexity: Acute Intermittent Porphyria Complicated by Rhabdomyolysis and Acute Pancreatitis.
CureusAcute intermittent porphyria: a disease with low penetrance and high heterogeneity.
Frontiers in geneticsGivosiran for the Treatment of Pediatric Acute Intermittent Porphyria.
Journal of pediatric hematology/oncologyAcute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Reversible Cerebral Vasoconstriction Syndrome and Myocardial Ischemia: A Case Report and Review.
Psychology research and behavior managementCardiovascular abnormalities in patients with acute intermittent porphyria: the AIPRACUS study.
Polish archives of internal medicineFinding the Needle in a Haystack: Acute Intermittent Porphyria.
The American journal of medicineEffectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation.
Molecular genetics and metabolism reportsPersonalized pharmacological prophylaxis of acute intermittent porphyria: The need for objective biochemical markers.
Journal of hepatologyOnset of Acute Intermittent Porphyria After Etonogestrel Implant Insertion: A Case Report.
Journal of pediatric hematology/oncologyVS4 Nanodendrites with Narrow Bandgaps in Activating Dissolved Oxygen for Boosted Chemiluminescence and Hemin Detection by Unexpected Quenching.
Analytical chemistryPersonalized dosage of Givosiran in acute intermittent porphyria.
Medicina clinicaLong-term complications in acute porphyria.
Liver international : official journal of the International Association for the Study of the LiverUnderstanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Seminars in liver diseaseRecovery of chronic motor neuropathy due to acute intermittent porphyria after givosiran treatment in a young boy: a case report.
European review for medical and pharmacological sciencesPICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.
Revista clinica espanolaKidney disease in acute intermittent porphyria: histological features and therapeutic perspectives.
Journal of nephrologyAn unexpected case of acute intermittent porphyria.
Acute medicineCase-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 LiverUnveiling the Chameleon: A Case Report on Acute Intermittent Porphyria.
CureusPreventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.
Molecular genetics and metabolism reportsNeurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.
American journal of medical genetics. Part AXenobiotics Triggering Acute Intermittent Porphyria and Their Effect on Mouse Brain Respiratory Complexes.
Journal of xenobioticsCausal effect of porphyria biomarkers on alcohol-related hepatocellular carcinoma through Mendelian Randomization.
PloS oneLiver transplantation and primary liver cancer in porphyria.
Liver international : official journal of the International Association for the Study of the LiverUse of Optical Coherence Tomography and Optical Coherence Tomography Angiography in the Diagnosis and Follow-Up of Endogenous Candida Endophthalmitis: A Case Report.
Medicina (Kaunas, Lithuania)Potential Biomarkers for the Earlier Diagnosis of Kidney and Liver Damage in Acute Intermittent Porphyria.
Life (Basel, Switzerland)A case report of acute intermittent porphyria leading to severe disability.
Frontiers in neurologyCimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria.
BiomoleculesObstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management.
Clinical and experimental gastroenterologyFunctional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.
Frontiers in geneticsAcute Intermittent Porphyria Presenting with Non-Convulsive Status Epilepticus and Posterior Reversible Encephalopathy Syndrome.
Neurology IndiaClinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review.
Frontiers in geneticsThe diagnosis of acute intermittent porphyria combined with seizures: Case report.
MedicineTreatment of Acute Intermittent Porphyria-Associated Anxiety Disorder With Gabapentin: Case Report and Review of Literature.
Journal of clinical psychopharmacologyAcute Intermittent Porphyria Labeled Initially As Guillain-Barre Syndrome: Challenging Diagnosis.
CureusMolecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene.
Frontiers in geneticsClinical 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 diseasesPremenstrual abdominal pain and posterior reversible encephalopathy syndrome in a woman with acute intermittent porphyria: A case report.
Asian journal of surgeryLong-term management and treatment of acute intermittent porphyria with recurring attacks using pharmacological prophylaxis.
Hepatology communicationsAcute intermittent porphyria complicated with acute pancreatitis: A case report and literature review.
MedicineThe Alpha-Lipoic Acid Improves Glucose Metabolism and Hyperinsulinemia in Acute Intermittent Porphyria: A Nutritional Concept for the Management of Rare Disorders.
Cellular and molecular gastroenterology and hepatologyA novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria.
Clinical case reportsAcute Porphyria: An Unusual Case Of Quadriparesis, Hypertension, Recurrent Severe Cyclic Abdominal Pain, And Seizures.
JPMA. The Journal of the Pakistan Medical AssociationAn Analysis and Literature Review of a Family Case of Acute Intermittent Porphyria With Initial Symptoms of Epileptic Seizure.
CureusNeedle in a Haystack: Acute Intermittent Porphyria, an Often-missed Differential Diagnosis of Abdominal Pain.
Journal of community hospital internal medicine perspectivesOne ring closer to a closure: the crystal structure of the ES3 hydroxymethylbilane synthase intermediate.
The FEBS journalImpact of acute hepatic porphyrias on the quality of life of patients according to the frequency of crises.
Medicina clinicaPathophysiology of attacks in acute hepatic porphyrias.
Medicina clinicaHMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.
MedicineAcute Intermittent Porphyria: A Review and Rehabilitation Perspective.
CureusMitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria.
Life (Basel, Switzerland)First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
Life (Basel, Switzerland)Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
American journal of human geneticsAcute Intermittent Porphyria in a Burn Patient: Case Study and Review of the Literature.
Journal of burn care & research : official publication of the American Burn AssociationReducing 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 sciencesPorphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients.
Journal of inherited metabolic diseaseGenetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to human HMBS protein.
Frontiers in molecular biosciencesNutritional Interventions with Bacillus coagulans Improved Glucose Metabolism and Hyperinsulinemia in Mice with Acute Intermittent Porphyria.
International journal of molecular sciencesUpdate on the Porphyrias.
Annual review of medicineTakotsubo Cardiomyopathy Triggered by Acute Intermittent Porphyria.
CureusStatus Epilepticus as a Presenting Feature in Posterior Reversible Encephalopathy Syndrome: Tertiary Care Center Experience.
Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care MedicineAcute intermittent porphyria: Acute flare-up resolved with givosiran.
Medicina clinicaEfficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial.
Journal of hepatologyEvaluating the Efficacy of a Small Interfering Ribonucleic Acid Molecule, Givosiran, in Treating Acute Intermittent Porphyria: A Systematic Review.
CureusRare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review.
Journal of investigative medicine high impact case reportsDetect Acute Porphyrias in Emergency Departments (DePorED) - a pilot study.
Orphanet journal of rare diseases[Abdominal pain with neuropsychiatric symptoms and ventilatory failure as a presentation of acute porphyria].
Revista medica del Instituto Mexicano del Seguro SocialIntrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report.
Journal of clinical medicineAcute Intermittent Porphyria Attack Triggered by COVID-19 Infection.
CureusPorphyrias: Uncommon disorders masquerading as common childhood diseases.
Journal of postgraduate medicineMaternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study.
Journal of inherited metabolic diseaseKey terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.
Journal of inherited metabolic diseaseAcute Intermittent Porphyria's Symptoms and Management: A Narrative Review.
CureusA Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female.
CureusAcute intermittent porphyria: A rare cause of syndrome of inappropriate antidiuretic hormone secretion.
The journal of the Royal College of Physicians of EdinburghRecurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran-An ongoing clinical conundrum.
JIMD reports[Research Progress in Pathogenesis of Hypertension in Acute Intermittent Porphyria].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeTranscriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity.
Archives of biochemistry and biophysicsA 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.
GastroenterologyTranscriptomic study in explanted liver from a patient with acute intermittent porphyria.
JIMD reportsQuantifying 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 reportsUnderstanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.
International journal of molecular sciences[Acute hepatic porphyrias].
Medizinische Klinik, Intensivmedizin und NotfallmedizinAn Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies.
Turkish archives of pediatricsNovel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPIdiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria.
Molecular genetics and metabolism reportsPorphyria: 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 diseaseNovel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report.
World journal of clinical casesA Medical Conundrum in a Surgical Setting: Lessons Learned From an Atypical Case of Hyponatremia.
CureusRecent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment.
Life (Basel, Switzerland)Concomitant Presentation of Acute Acalculous Cholecystitis and Acute Colitis in a Patient with Behcet's Disease.
CureusAcute Intermittent Porphyria as a Rare Challenging Neuro-Metabolic Disease; a Case Report.
Archives of academic emergency medicineClinical-Pathological Conference Series from the Medical University of Graz : Case No 175: A 54-year-old man with hyponatremia and delirium after surgery for a prolapsed disc.
Wiener klinische WochenschriftAcute intermittent porphyria presenting with first episode seizure and rhabdomyolysis.
Acta neurologica BelgicaAcute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.
The American journal of case reportsA novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria.
Qatar medical journalBiomarkers that predict attacks of acute intermittent porphyria.
Translational gastroenterology and hepatologyReversible Cerebral Vasospasm in Acute Intermittent Porphyria: A Case Report and Review of the Literature.
European journal of case reports in internal medicineHeterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acute intermittent porphyria.
Journal of cancer research and clinical oncologyALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias.
BiochemistryLong-term Remission of Acute Intermittent Porphyria Treated with Gonadotropin-Releasing Hormone Analogues and Estrogen: a Case Report.
Clinical laboratoryCharacterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.
FEBS open bio'Swollen heart' in the course of acute intermittent porphyria associated with severe hyponatraemia.
European heart journal. Cardiovascular ImagingMessenger RNA as a personalized therapy: The moment of truth for rare metabolic diseases.
International review of cell and molecular biologyComments on "A Case of MELAS With the m.3243A>G Variant of the MT-TL1 Gene Mimicking Acute Intermittent Porphyria".
Journal of clinical neurology (Seoul, Korea)Re: Comments on "A Case of MELAS With the m.3243A>G Variant of the MT-TL1 Gene Mimicking Acute Intermittent Porphyria": The Authors Respond.
Journal of clinical neurology (Seoul, Korea)Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Journal of inherited metabolic diseaseDisease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.
Orphanet journal of rare diseasesDental and Periodontal Health in Acute Intermittent Porphyria.
Life (Basel, Switzerland)Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria.
Frontiers in geneticsOrganophosphate insecticide poisoning with monocrotophos-induced fabricated illness in a 7-year-old girl with refractory seizures over a 4-year period.
Paediatrics and international child healthHyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.
Expert review of gastroenterology & hepatologyTherapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know.
Diagnostics (Basel, Switzerland)Porphyria-induced Postpartum Reversible Posterior Encephalopathy Syndrome.
Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care MedicineTime is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria.
ACG case reports journalA Perfect Storm: Abdominal Pain and Ileus Explained by Acute Intermittent Porphyria Caused by Prehospitalization and Intrahospitalization Factors.
Journal of investigative medicine high impact case reportsRisk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review.
CancersAcute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China.
Annals of translational medicineNeurological Manifestations of Acute Porphyrias.
Current neurology and neuroscience reportsBi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.
Journal of hepatologyA Case of MELAS With the m.3243A>G Variant of the MT-TL1 Gene Mimicking Acute Intermittent Porphyria.
Journal of clinical neurology (Seoul, Korea)Update on the diagnosis and management of the autosomal dominant acute hepatic porphyrias.
Journal of clinical pathologyAcute intermittent porphyria: is oseltamivir safe in these patients?
Clinical medicine (London, England)Givosiran for the treatment of acute hepatic porphyria.
Expert review of clinical pharmacologyAcute Intermittent Porphyria in Prepubertal Child-diagnostic and Therapeutic Challenges in India: A Case Report and Literature Review.
Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care MedicineDiagnosis of acute intermittent porphyria in emergency department.
QJM : monthly journal of the Association of PhysiciansWood's lamp urinary examination in acute intermittent porphyria.
QJM : monthly journal of the Association of PhysiciansHigh penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria.
JIMD reportsClinical Challenges of Acute Porphyria in the Young Adult.
The NeurohospitalistEvaluation of Metabolic Changes in Acute Intermittent Porphyria Patients by Targeted Metabolomics.
International journal of molecular sciencesCutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution.
BiomedicinesLong-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.
Molecular genetics and metabolism reportsMechanistic modelling of enzyme-restoration effects of new recombinant liver-targeted proteins in acute intermittent porphyria.
British journal of pharmacology[Laboratory diagnostics of acute porphyrias].
MMW Fortschritte der MedizinRisk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.
Journal of internal medicineDiagnosis of acute intermittent porphyria in a renal transplant patient: A case report.
World journal of transplantationRNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria.
Journal of internal medicineGivosiran in acute intermittent porphyria: A personalized medicine approach.
Molecular genetics and metabolismRecombinant porphobilinogen deaminase targeted to the liver corrects enzymopenia in a mouse model of acute intermittent porphyria.
Science translational medicineKidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications.
Diagnostics (Basel, Switzerland)Complex response to physiological and drug-induced hepatic heme demand in monoallelic ALAS1 mice.
Molecular genetics and metabolism reports[Van Gogh's Pathography and the Influence of Illness on Painting].
Brain and nerve = Shinkei kenkyu no shinpoThe crystal structures of the enzyme hydroxymethylbilane synthase, also known as porphobilinogen deaminase.
Acta crystallographica. Section F, Structural biology communicationsABCB6 polymorphisms are not overly represented in patients with porphyria.
Blood advancesProphylactic Heme Arginate Infusion for Acute Intermittent Porphyria.
Frontiers in pharmacologyProfiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers.
CellsTwo Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.
International journal of molecular sciencesAssociações
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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.
- The Case of a 37-Year-Old Woman Presenting With Subacute Weakness and Paresthesias.
- Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.
- Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report.
- Tolvaptan: a potential rescue therapy for SIADH with refractory hyponatremia associated with acute intermittent porphyria.
- Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.
- Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome: a case report.
- Claw hands in acute intermittent porphyria.
- Paraneoplastic hypoglycemia caused by hepatocarcinoma in a patient with acute intermittent porphyria.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79276(Orphanet)
- OMIM OMIM:176000(OMIM)
- MONDO:0008294(MONDO)
- Porfiria Aguda Intermitente(PCDT · Ministério da Saúde)
- GARD:5732(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q424247(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
