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Hemoglobinúria paroxística noturna
ORPHA:447CID-10 · D59.5CID-11 · 3A21.0PCDT · SUSDOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
Sangue / imuneInício todas idadesHerança Unknown
Também conhecida comoDoença de Marchiafava-MicheliPNHHPN
Sinônimos clínicos: Doença de Marchiafava-Micheli

A hemoglobinúria paroxística noturna (HPN) é uma doença clonal adquirida de células-tronco hematopoiéticas caracterizada por anemia hemolítica corpuscular, insuficiência da medula óssea e eventos trombóticos frequentes.

Última verificação: Fonte: não verificado (1 pendência)Em construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A hemoglobinúria noturna paroxística (PNH) é um distúrbio adquirido (não herdado) que leva à morte prematura e à produção comprometida de células sanguíneas. O distúrbio afeta os glóbulos vermelhos (eritrócitos), que transportam oxigênio; os glóbulos brancos (leucócitos), que protegem o corpo contra infecções; e as plaquetas (trombócitos), que participam da coagulação sanguínea. A PNH pode ocorrer em qualquer idade, embora seja mais frequentemente diagnosticada na fase jovem da idade adulta.

Pessoas com PNH apresentam episódios súbitos e recorrentes de sintomas (sintomas paroxísticos), que podem ser desencadeados por estresses no corpo, como infecções ou esforço físico. Durante esses episódios, os glóbulos vermelhos são degradados mais cedo do que deveriam (hemólise). As pessoas afetadas podem eliminar urina de cor escura devido à presença de hemoglobina, a proteína transportadora de oxigênio no sangue. A presença anormal de hemoglobina na urina é chamada de hemoglobinúria. Em muitos, mas não todos os casos, a hemoglobinúria é mais perceptível logo pela manhã, ao urinar a urina que se acumulou na bexiga durante a noite (noturna).

A degradação prematura dos glóbulos vermelhos resulta em escassez dessas células no sangue (anemia hemolítica), o que pode causar sinais e sintomas como fadiga, fraqueza, pele anormalmente pálida (palidez), falta de ar e aumento da frequência cardíaca (taquicardia). Pessoas com PNH também podem ser mais propensas a infecções devido à escassez de glóbulos brancos (leucopenia).

Plaquetas anormais associadas à PNH podem causar problemas no processo de coagulação sanguínea. Como resultado, pessoas com esse distúrbio podem apresentar coagulação sanguínea anormal (trombose), especialmente em grandes veias abdominais; ou, com menos frequência, episódios de sangramento grave (hemorragia).

Indivíduos com PNH têm risco aumentado de desenvolver câncer nas células formadoras de sangue (leucemia). Em alguns casos, pessoas que têm ou foram tratadas para outra doença sanguínea chamada anemia aplástica podem desenvolver PNH. Em um pequeno número de pessoas afetadas, os sinais e sintomas da PNH desaparecem espontaneamente.

Uma forma muito rara de PNH envolve inflamação anormal além das características típicas descritas acima. A inflamação é uma resposta normal do sistema imunológico a lesões e invasores externos (como bactérias). Em pessoas com essa forma rara de PNH, a resposta imunológica é ativada anormalmente e pode causar meningite asséptica recorrente (que é a inflamação das membranas que envolvem o cérebro e a medula espinhal e não está relacionada a infecção); uma erupção cutânea vermelha e pruriginosa (conhecida como urticária ou urticária); dor nas articulações (artralgia); ou doença inflamatória intestinal. Os distúrbios inflamatórios geralmente começam antes dos problemas nas células sanguíneas.

Fonte: MedlinePlus Genetics (NLM/NIH), traduzido
📋
Informacoes curadas por IA — podem conter imprecisoes

A hemoglobinúria paroxística noturna (HPN) é uma doença clonal adquirida de células-tronco hematopoiéticas caracterizada por anemia hemolítica corpuscular, insuficiência da medula óssea e eventos trombóticos frequentes.

Pesquisas ativas
65 ensaios
183 total registrados no ClinicalTrials.gov
Publicações científicas
3.113 artigos
Último publicado: 2026
Medicamentos
4 com registro
Eculizumabe, BKEMV (ECULIZUMAB-AEEB), EPYSQLI (ECULIZUMAB-AAGH)

Tem tratamento?

✓ 4 medicamentos específicos desta doença (registro ANVISA, FDA ou SUS/CEAF)
Ver detalhes, fases e interações →
ECULIZUMABEBKEMV (ECULIZUMAB-AEEB)EPYSQLI (ECULIZUMAB-AAGH)PIASKY (CROVALIMAB)

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
3.81
United Kingdom
Início
All ages
🏥
SUS: Cobertura parcialScore: 55%
PCDT disponível1 medicamento CEAFCID-10: D59.5
Você se identifica com essa condição?
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Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
10 sintomas
🫘
Rins
5 sintomas
🫃
Digestivo
5 sintomas
🫁
Pulmão
2 sintomas
❤️
Coração
1 sintomas
👁️
Olhos
1 sintomas

+ 25 sintomas em outras categorias

Características mais comuns

100%prev.
Atividade enzimática eritrocitária anormal
90%prev.
Anemia hemolítica
Muito frequente (99-80%)
90%prev.
Astenia
Muito frequente (99-80%)
90%prev.
Hemoglobinúria
Muito frequente (99-80%)
90%prev.
Anemia
Muito frequente (99-80%)
55%prev.
Trombose venosa profunda
Frequente (79-30%)
49sintomas
Muito frequente (5)
Frequente (17)
Ocasional (18)
Muito raro (4)
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.

Atividade enzimática eritrocitária anormalAbnormal erythrocyte enzyme activity
Muito frequente100%
Anemia hemolíticaHemolytic anemia
Muito frequente (99-80%)90%
AsteniaAsthenia
Muito frequente (99-80%)90%
HemoglobinúriaHemoglobinuria
Muito frequente (99-80%)90%
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico3.113PubMed
Últimos 10 anos200publicações
Pico2025137 papers
Linha do tempo
2026Hoje · 2026🧪 1996Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.

PIGTGPI-anchor transamidase component PIGTDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (1)
Attachment of GPI anchor to uPAR
MECANISMO DE DOENÇA

Multiple congenital anomalies-hypotonia-seizures syndrome 3

An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
53.6 TPM
Artéria coronária
42.9 TPM
Artéria tibial
38.8 TPM
Útero
35.9 TPM
Fibroblastos
35.5 TPM
OUTRAS DOENÇAS (2)
multiple congenital anomalies-hypotonia-seizures syndrome 3paroxysmal nocturnal hemoglobinuria 2
HGNC:14938UniProt:Q969N2
PIGAPhosphatidylinositol N-acetylglucosaminyltransferase subunit ADisease-causing somatic mutation(s) inAltamente restrito
VIAS BIOLÓGICAS (1)
Synthesis of glycosylphosphatidylinositol (GPI)
MECANISMO DE DOENÇA

Paroxysmal nocturnal hemoglobinuria 1

A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
15.2 TPM
Skin Not Sun Exposed Suprapubic
11.5 TPM
Linfócitos
10.6 TPM
Tireoide
9.4 TPM
Skin Sun Exposed Lower leg
8.8 TPM
OUTRAS DOENÇAS (5)
ferro-cerebro-cutaneous syndromeparoxysmal nocturnal hemoglobinuria 1multiple congenital anomalies-hypotonia-seizures syndrome 2paroxysmal nocturnal hemoglobinuria
HGNC:8957UniProt:P37287

Medicamentos aprovados (FDA)

3 medicamentos encontrados nos registros da FDA americana.

💊 BKEMV (ECULIZUMAB-AEEB)
💊 EPYSQLI (ECULIZUMAB-AAGH)
💊 Piasky (CROVALIMAB)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

375 variantes patogênicas registradas no ClinVar.

🧬 PIGT: GRCh37/hg19 20q11.21-13.12(chr20:31010829-44560369)x1 ()
🧬 PIGT: NM_015937.6(PIGT):c.1595C>A (p.Thr532Lys) ()
🧬 PIGT: NM_015937.6(PIGT):c.1730C>A (p.Pro577Gln) ()
🧬 PIGT: NM_015937.6(PIGT):c.20_22delinsCTT (p.Leu7_Ala8delinsProSer) ()
🧬 PIGT: NM_015937.6(PIGT):c.1646G>T (p.Arg549Leu) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 44 variantes classificadas pelo ClinVar.

22
13
9
Patogênica (50.0%)
VUS (29.5%)
Benigna (20.5%)
VARIANTES MAIS SIGNIFICATIVAS
PIGA: NM_002641.4(PIGA):c.1139del (p.Ile380fs) [Likely pathogenic]
PIGA: NM_002641.4(PIGA):c.329dup (p.Pro111fs) [Likely pathogenic]
PIGA: NM_002641.4(PIGA):c.151_187del (p.Ser51fs) [Likely pathogenic]
PIGA: NM_002641.4(PIGA):c.196_206del (p.Lys66fs) [Likely pathogenic]
PIGA: NM_002641.4(PIGA):c.1188+1G>C [Likely pathogenic]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
✓Aprovado1
3Fase 328
2Fase 229
1Fase 116
·Pré-clínico26
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 100 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Hemoglobinúria paroxística noturna

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Publicações mais relevantes

🥇Melhor nível de evidência: Meta-análise
Timeline de publicações
1.216 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 1.216

#1

Optimizing Care in Patients with Paroxysmal Nocturnal Hemoglobinuria: Managing Suboptimal Response and Uncontrolled Disease.

Journal of blood medicine2026

The treatment of patients with PNH has been revolutionized by terminal complement C5 inhibitors, which control intravascular hemolysis and thrombosis, reduce morbidity and mortality, and improve life expectancy to that approaching people without PNH. In recent years, approval of proximal inhibitors provides clinicians and patients with additional treatment options such that patients who have residual anemia, ongoing symptoms affecting quality of life, or are intolerant to terminal C5 inhibition now have options to optimize treatment. Here, we provide five questions to guide clinicians involved in the care of patients with PNH in assessing treatment response on terminal inhibitors and identifying patients who might benefit from therapy adjustments. We also provide insights into additional treatment options.

#2

Ravulizumab for Treatment of Paroxysmal Nocturnal Hemoglobinuria During Pregnancy.

Blood advances2026 Jan 29

Ravulizumab, a humanized, long-acting monoclonal antibody against complement factor C5, is a widely utilized treatment for paroxysmal nocturnal hemoglobinuria (PNH). As pregnant women with PNH are at increased risk for complications and the safety and efficacy of ravulizumab in pregnancy is not known, we performed an international multicenter retrospective analysis of 16 PNH patients with 19 pregnancies managed with ravulizumab and compared outcomes to 8 earlier pregnancies in the same patients treated with eculizumab. Of the eight eculizumab pregnancies, three resulted in miscarriages and one in early preterm delivery for threatened fetal demise and massive fetal growth retardation. All 19 pregnancies on ravulizumab resulted in birth of live infants with a median gestational age of 267 days (interquartile range (IQR) 259-275) and median birth weight of 3115grams (IQR 2458-3349 grams). Cord blood testing in two pregnancies receiving intensified ravulizumab dosing revealed detectable ravulizumab levels consistent with transplacental transfer. After a median follow-up of 16.2 months (IQR 4.4-40.1), no developmental abnormalities or severe infectious complications were observed in the children. This retrospective analysis provides evidence for the safety and effectiveness of ravulizumab in managing PNH during pregnancy and breastfeeding with favorable maternal and fetal outcomes.

#3

Efficacy and safety of vemircopan as monotherapy in patients with paroxysmal nocturnal hemoglobinuria.

Blood advances2026 Feb 10

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, complement-mediated hematologic disease. We present the results of a phase 2, open-label clinical trial of vemircopan monotherapy in patients with PNH to explore the efficacy and safety of inhibiting the complement alternative pathway via factor D. Adults (aged ≥18 years) with PNH who were treatment-naïve and switched from eculizumab with hemoglobin (Hgb) of <10 g/dL or rolled over from danicopan monotherapy (ACH471-103 trial; ClinicalTrials.gov identifier: NCT03181633) were enrolled. The trial comprised a 60-day screening period, 12-week treatment period, and 148-week long-term extension. Participants received vemircopan 120 mg twice daily, with potential escalation to 180 mg twice daily. The primary endpoint was change in Hgb from baseline to week 12. Safety endpoints included treatment-emergent adverse events (TEAEs) and serious AEs. Twenty-nine participants were enrolled (treatment-naïve, n = 12; eculizumab-switch, n = 11; and danicopan-rollover, n = 6); all completed the 12-week treatment period, and 1 danicopan-rollover participant completed the long-term extension. Clinically meaningful improvements from baseline to week 12 in Hgb (change of ≥2 g/dL) were reported in the treatment-naïve (mean, 3.6 [standard deviation [SD], 1.5]) and eculizumab-switch (mean, 3.3 [SD, 2.0]) cohorts and maintained through the end of the trial. Eighty-two breakthrough intravascular hemolysis (BT-IVH) events in 25 participants were reported. Twenty-eight participants reported TEAEs, and 14 reported serious AEs; most were unrelated to vemircopan. No deaths occurred. This trial evaluating vemircopan monotherapy met its primary efficacy endpoint; however, concerns regarding BT-IVH risk and suboptimal, inconsistent control of IVH emerged, leading to early trial termination. This trial was registered at www.clinicaltrials.gov as #NCT04170023, and EudraCT as #2019-003830-17.

#4

Telomere content and genomics of myeloid neoplasia by whole-genome sequencing.

Blood2026 Jan 08

Telomere length shortening has been associated with genomic instability and acquisition of molecular lesions, but these processes have not been systematically studied across large cohorts of myeloid neoplasia (MN). As proof of concept for a novel, cross-validated whole-genome sequencing-based method of telomere content (TC) determination combined with mutations, transcriptomics, and functional assays, we studied TC in correlation with specific molecular features of a large cohort (N = 1804) of patients with MN, including acute myeloid leukemia (AML) and myelodysplastic syndrome. When compared with healthy participants and patients with nonclonal diseases such as persistent polyclonal B-cell lymphocytosis, both MN and nonmalignant controls with clonal disease, such as paroxysmal nocturnal hemoglobinuria and aplastic anemia, exhibited decreased TC. Furthermore, we show that TC is lowered in adult MN abrogating correlation with age with considerable TC diversification among certain morphologic and molecular subtypes. For instance, AML harbored the lowest TC. Furthermore, MN originating from a more mature cell of origin (eg, acute promyelocytic leukemia) or characterized by hyperproliferative driver mutations (eg, RAS pathway genes) had lower TC, possibly indicating a loss of telomere maintenance capacity. In contrast, compared with other mutations, MN subtypes arising in a context of profound genetic alterations, such as TP53 mutations and complex karyotype, exhibited a relatively higher/preserved TC. This phenomenon did not involve alternative lengthening processes but was rather consistent with an increased TC due to preserved activity of the telomerase complex. Our results describe a common and genotype-specific telomeric makeup of a large cohort of patients with MN providing a molecular benchmark for future therapeutic targeting of the telomere machinery.

#5

First report of perioperative iptacopan interruption in paroxysmal nocturnal hemoglobinuria without breakthrough hemolysis.

Hematology, transfusion and cell therapy2026

Publicações recentes

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📚 EuropePMC2.205 artigos no totalmostrando 197

2026

Case report: persistent anemia after eculizumab in paroxysmal nocturnal hemoglobinuria: non-dominantly active intravascular hemolysis.

Hematology (Amsterdam, Netherlands)
2026

Hemoglobinuria-associated acute kidney injury in hemolytic uremic syndrome without renal thrombotic microangiopathy.

BMC nephrology
2026

Indirect treatment comparison of iptacopan versus pegcetacoplan for patients with paroxysmal nocturnal hemoglobinuria and residual anemia despite C5 inhibitor treatment.

Journal of comparative effectiveness research
2026

Decrease in PNH-type Blood Cells after the Cessation of Thrombopoietin Receptor Agonist in a Case of AA-PNH Syndrome.

Internal medicine (Tokyo, Japan)
2026

[Efficacy and safety of romiplostim N01 for refractory aplastic anemia: a retrospective single-center study].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2026

Thrombosis in paroxysmal nocturnal hemoglobinuria in the complement inhibitor era: mechanisms, risk stratification, and clinical management.

International journal of hematology
2026

Renal hemosiderosis in paroxysmal nocturnal hemoglobinuria.

Kidney international
2026

Analysis of adverse drug reactions associated with ravulizumab: a retrospective pharmacovigilance study utilizing the FAERS database.

Frontiers in immunology
2026

Allogeneic Hematopoietic Cell Transplantation Using Post-Transplant Cyclophosphamide in Patients With Large Paroxysmal Nocturnal Hemoglobinuria Clones.

European journal of haematology
2026

A Prospective 1-Year Study of Renal Recovery in Pigment Nephropathy: Insights Beyond the Acute Phase.

The Journal of the Association of Physicians of India
2026

Paroxysmal Nocturnal Hemoglobinuria as a Rare Cause of Chronic Asymptomatic Hemolysis: A Case Report.

Cureus
2026

The Challenges Associated with the Diagnosis and Treatment for Aplastic Anemia Concurrent with Lymphoplasmacytic Lymphoma/Waldenström's Macroglobulinemia.

Internal medicine (Tokyo, Japan)
2026

Optimizing Care in Patients with Paroxysmal Nocturnal Hemoglobinuria: Managing Suboptimal Response and Uncontrolled Disease.

Journal of blood medicine
2026

Real-World Effectiveness and Safety of Ravulizumab in Patients With Paroxysmal Nocturnal Hemoglobinuria: Evidence From the International PNH Registry.

American journal of hematology
2026

Hematologic disorders in pregnancy: the role of the complement system.

Expert review of hematology
2026

Zilucoplan is effective for ravulizumab-refractory generalized myasthenia gravis with the C5 p.Arg885His variant: a case report.

Neuromuscular disorders : NMD
2026

Population PK-PD Modeling of Danicopan Add-On Therapy in Participants With Paroxysmal Nocturnal Hemoglobinuria Treated With Ravulizumab or Eculizumab.

CPT: pharmacometrics &amp; systems pharmacology
2026

Clinical Profile, Humanistic and Economic Burden of Paroxysmal Nocturnal Hemoglobinuria in Patients Treated With C5 Inhibitors.

EJHaem
2025

COEXISTENCE OF APLASTIC ANEMIA AND PAROXYSMAL NOCTURNAL HEMOGLOBINURIA: DIAGNOSTIC CHALLENGES AND THERAPEUTIC STRATEGIES - CASE REPORT.

Georgian medical news
2026

Disease burden and treatment patterns of paroxysmal nocturnal hemoglobinuria in Japan: a real-world survey.

International journal of hematology
2026

[How I diagnose and treat paroxysmal nocturnal hemoglobinuria].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2026

Paroxysmal Nocturnal Hemoglobinuria in a Young Adult Woman: A Representative Case of Recurrent Intravascular Hemolysis.

Cureus
2026

Switching patients with PNH from pegcetacoplan to iptacopan: a case series.

Hematology (Amsterdam, Netherlands)
2026

Clonal expansion mechanisms in paroxysmal nocturnal hemoglobinuria.

International journal of hematology
2026

Complement Biomarkers for Monitoring Last-Generation Complement Inhibitors in Paroxysmal Nocturnal Hemoglobinuria Patients.

American journal of hematology
2026

Ravulizumab for Treatment of Paroxysmal Nocturnal Hemoglobinuria During Pregnancy.

Blood advances
2026

Improvement in anemia and symptoms after switching from crovalimab to iptacopan in paroxysmal nocturnal hemoglobinuria.

Hematology (Amsterdam, Netherlands)
2026

Integrative miRNA-mRNA Network and Molecular Dynamics-Based Identification of Therapeutic Candidates for Paroxysmal Nocturnal Hemoglobinuria.

Pharmaceuticals (Basel, Switzerland)
2026

Psychometric performance of the Functional Assessment of Chronic Illness Therapy (FACIT) Fatigue questionnaire among adults with paroxysmal nocturnal hemoglobinuria.

Journal of patient-reported outcomes
2026

Tailoring Eculizumab Treatment: Evaluation of Model-Informed Precision Dosing for Eculizumab in Patients with Paroxysmal Nocturnal Hemoglobinuria and Atypical Hemolytic Uremic Syndrome.

Therapeutic drug monitoring
2026

Real life use of ravulizumab in Italian patients with paroxysmal nocturnal hemoglobinuria: evidence from the REACTION observational study.

Annals of hematology
2026

Acute kidney injury as a harbinger of paroxysmal nocturnal hemoglobinuria in an unsuspected case.

Indian journal of pathology &amp; microbiology
2025

[Advancing treatment goals for paroxysmal nocturnal hemoglobinuria to align with quality of life improvements in the era of anti-complement therapy].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2026

Cost per responder analysis of iptacopan versus eculizumab and ravulizumab in treatment of paroxysmal nocturnal hemoglobinuria: implications for decision-making.

Journal of medical economics
2025

Therapeutic Antibodies in Hematology: Advances in Malignant and Non-Malignant Disorders.

Cells
2026

Discovery of (3R,4R)-15: An Advanced Factor B Inhibitor Entering Phase 3 for Complement-Mediated Diseases.

Journal of medicinal chemistry
2026

[Targeting complement in atypical hemolytic and uremic syndrome: development and current status of eculizumab and ravulizumab].

Nephrologie &amp; therapeutique
2026

Lyme disease as a rare trigger for autoimmune hemolytic anemia.

BMC infectious diseases
2026

Laboratory findings in patients treated with complement factor C3 inhibitor pegcetacoplan.

Clinical chemistry and laboratory medicine
2025

Disease-modifying treatments in paroxysmal nocturnal hemoglobinuria: a systematic review of economic evaluations.

Cost effectiveness and resource allocation : C/E
2025

Paroxysmal Nocturnal Hemoglobinuria-Driven Hepatic Vein Thrombosis: A Case of Budd-Chiari Syndrome in Disguise.

Cureus
2025

Paroxysmal nocturnal hemoglobinuria presenting with acute kidney injury in an 18-year-old male: a case report.

Korean journal of family medicine
2025

Whole genome sequencing confirms reactivation of Tuberculosis five years after initial infection despite adequate preventative therapy in a patient with profound immunosuppression.

QJM : monthly journal of the Association of Physicians
2025

[Current Perspectives on Paroxysmal Nocturnal Hemoglobinuria (PNH)].

Revista medica de Chile
2025

Pathophysiology of Primary Budd-Chiari Syndrome: A Narrative Review.

Cureus
2025

Successful Birth After First-Trimester Ravulizumab Exposure in a Patient With Paroxysmal Nocturnal Hemoglobinuria: A Case Report.

EJHaem
2026

First report of perioperative iptacopan interruption in paroxysmal nocturnal hemoglobinuria without breakthrough hemolysis.

Hematology, transfusion and cell therapy
2025

C3 mutations and poor pegcetacoplan response in paroxysmal nocturnal hemoglobinuria.

Frontiers in immunology
2025

[The night has many faces: When schistocytes step out of line].

Praxis
2025

Free GPIs and Comparison of GPI Structures Among Species.

International journal of molecular sciences
2025

A rare case of littoral cell angioma with paroxysmal nocturnal hemoglobinuria.

Medicine
2025

Thrombin generation in PNH patients treated sequentially with Eculizumab and Ravulizumab: a paired analysis.

Journal of thrombosis and thrombolysis
2025

The varieties of therapeutic experience: navigating treatment options for patients with PNH.

Hematology. American Society of Hematology. Education Program
2025

Rotational Thromboelastometry (ROTEM)-Assisted Anaesthetic Management of a Parturient With Paroxysmal Nocturnal Haemoglobinuria and Aplastic Anaemia for Caesarean Section: A Case Report.

Cureus
2025

Complement factor D is a drug target for metabolic-associated fatty liver disease.

Molecular immunology
2025

Myeloproliferative neoplasms with clinically relevant paroxysmal nocturnal hemoglobinuria: clinical correlations and outcomes.

Haematologica
2026

Efficacy and Safety of the C5 Inhibitor Crovalimab in Patients With Paroxysmal Nocturnal Hemoglobinuria: A Systematic Review and Meta-Analysis.

European journal of haematology
2025

Predicting secondary myeloid neoplasms in acquired aplastic anemia using machine learning models.

Blood neoplasia
2025

Diffuse Large B-Cell Lymphoma Combined With Paroxysmal Nocturnal Hemoglobinuria: A Rare Case Report.

Clinical case reports
2025

Paroxysmal Nocturnal Hemoglobinuria in Pregnancy Treated With Pegcetacoplan: Case Report and Pharmacokinetic Analysis.

EJHaem
2025

Advances in Complement Inhibition Therapies for Paroxysmal Nocturnal Hemoglobinuria and Autoimmune Hemolytic Disorders.

Journal of blood medicine
2025

A case of allogeneic peripheral blood stem cell in a paroxysmal nocturnal hemoglobinuria patient from a COVID-positive donor: Managing the unpreventable.

Asian journal of transfusion science
2025

Common features of rare disease patients in the emergency department: a systematised literature review.

Orphanet journal of rare diseases
2025

Hepatic Sinusoidal Obstruction Syndrome Secondary to Aplastic Anemia/Paroxysmal Nocturnal Hemoglobinuria Syndrome: A Rare Case.

Diagnostics (Basel, Switzerland)
2026

Mapping Health State Utility from Disease-Specific Measures in Spinal Muscular Atrophy and Paroxysmal Nocturnal Hemoglobinuria.

PharmacoEconomics
2026

Long-term outcomes of αβ T-cell/CD19 B-cell-depleted peripheral blood stem cell transplantation from unrelated donors in pediatric and adolescent patients with severe aplastic anemia: a single-center study.

Cytotherapy
2025

Paroxysmal Nocturnal Hemoglobinuria.

Mayo Clinic proceedings
2026

Complement-targeting therapies in hemolytic diseases.

Current opinion in immunology
2025

Consensus of the Hematology Society of Taiwan on the management of paroxysmal nocturnal hemoglobinuria (PNH).

Journal of the Formosan Medical Association = Taiwan yi zhi
2025

Improved Iron Overload with Pegcetacoplan in Eculizumab-Experienced Patients with Paroxysmal Nocturnal Hemoglobinuria.

International journal of molecular sciences
2025

[Significance of the 50% hemolytic complement in hemolysis assessment and efficacy of eculizumab in patients with paroxysmal nocturnal hemoglobinuria].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2025

Iptacopan in C5 blockade refractory atypical hemolytic uremic syndrome with associated Castleman's disease: case report.

BMC nephrology
2025

Paroxysmal Nocturnal Hemoglobinuria in Patients with Systemic Lupus Erythematosus: Diagnostic Challenges and Improvement with C5 Inhibitor Treatment.

Internal medicine (Tokyo, Japan)
2026

Efficacy and safety of vemircopan as monotherapy in patients with paroxysmal nocturnal hemoglobinuria.

Blood advances
2025

Case report: Spontaneous remission of severe aplastic anemia mediated by mutant hematopoietic stem cells evading T-cell attack.

Frontiers in immunology
2025

Identification of plasma protein biomarkers for ankylosing spondylitis by integrating proteome with genome.

Clinical rheumatology
2025

Progress in the use of biological therapies to treat paroxysmal nocturnal hemoglobinuria: focus on patient profiling.

Expert opinion on biological therapy
2025

Ravulizumab exposure in early pregnancy.

Annals of hematology
2025

Repair of Congenital Cardiac Disease Requiring Bypass for a Pediatric Patient With Paroxysmal Nocturnal Hemoglobinuria.

JACC. Case reports
2025

Correlation of clone size with clinical and lab presentation in Paroxysmal nocturnal hemoglobinuria (PNH): A single center experience.

Pakistan journal of medical sciences
2025

Paroxysmal nocturnal hemoglobinuria revealed by atypical thromboses: A case of cerebral, hepatic, and portal vein involvement leading to cirrhosis.

Radiology case reports
2025

First reported case of Moraxella lacunata bacteremia following pharyngitis in an adult with paroxysmal nocturnal hemoglobinemia receiving ravulizumab: A case report.

IDCases
2025

[Challenges in optimizing targeted complement inhibitor therapy for paroxysmal nocturnal hemoglobinuria in an expanding treatment landscape].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2025

Paroxysmal Nocturnal Hemoglobinuria: Unraveling Its Molecular Pathogenesis and Advancing Targeted Therapeutic Strategies.

Diseases (Basel, Switzerland)
2025

Biosynthesis of GPI anchored proteins, its deficiencies and treatment.

Journal of human genetics
2025

Structure and function of therapeutic antibodies approved by the US FDA in 2024.

Antibody therapeutics
2026

Telomere content and genomics of myeloid neoplasia by whole-genome sequencing.

Blood
2025

Managing transient immune complex reactions in patients with paroxysmal nocturnal hemoglobinuria: clinical observations from the COMMODORE 1 and 2 studies.

Therapeutic advances in hematology
2025

Successful switch from pegcetacoplan to iptacopan after repeated severe breakthrough hemolysis events - case report.

Hematology (Amsterdam, Netherlands)
2025

[Diagnosis of non-autoimmune hemolysis in the adult].

La Revue de medecine interne
2026

Paroxysmal Nocturnal Hemoglobinuria Associated Cutaneous Thrombosis: A Case Report.

Indian dermatology online journal
2025

Paroxysmal Nocturnal Hemoglobinuria with Large Clones in Non-Hypoplastic Myelodysplastic Syndrome: Report of Two Cases.

Acta haematologica
2025

Enigmatic Roles of Complement Anaphylatoxin Signaling in Health and Disease.

Immune network
2025

[New treatment strategies for paroxysmal nocturnal hemoglobinuria: drug selection in the era of novel complement inhibitors].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2025

Clinical characteristics and management of paroxysmal nocturnal hemoglobinuria in the Middle East: a narrative review.

Clinical and experimental medicine
2025

Viral infections and related fatal adverse events associated with complement inhibitors for PNH: a real-world pharmacovigilance analysis in FAERS.

Frontiers in pharmacology
2025

PNH clones prevalence study in ph-negative myeloproliferative neoplasms: a multicenter Italian study.

Annals of hematology
2025

Case Report: Iptacopan in a paroxysmal nocturnal hemoglobinuria patient with severe renal insufficiency.

Frontiers in medicine
2025

Real-World Prevalence and Outcomes of Patients with Paroxysmal Nocturnal Hemoglobinuria Treated with C5 Inhibitors in the US: A Retrospective Claims Database Analysis.

Journal of health economics and outcomes research
2025

Successful Control of Chemotherapy-Induced Breakthrough Hemolysis With Ravulizumab in a Patient With Paroxysmal Nocturnal Hemoglobinuria During Carboplatin-Pemetrexed Treatment for Lung Adenocarcinoma.

Cureus
2025

Paroxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome: a Case Report.

Frontiers in medicine
2025

Danicopan: complement factor D inhibitor for paroxysmal nocturnal hemoglobinuria.

Trends in pharmacological sciences
2025

Characterization of Breakthrough Hemolysis in Patients With Paroxysmal Nocturnal Hemoglobinuria: An International Multicenter Experience.

American journal of hematology
2025

Disseminated gonococcal infection developing two days after initial eculizumab administration in a patient with neuromyelitis optica spectrum disorder: A case report and literature review.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
2024

The Onerous task of managing paroxysmal nocturnal hemoglobinuria in a Low resource setting: a case report. A hematologist's experience.

African health sciences
2025

Targeting the Roots of Kidney Disease: Systematic Review of the Therapies Targeting the Complement System.

Medicina (Kaunas, Lithuania)
2025

Efficacy and Safety Maintained up to 3 Years in Adults with Paroxysmal Nocturnal Hemoglobinuria Receiving Pegcetacoplan.

Advances in therapy
2025

Safety, Efficacy, and Patient-Reported Outcomes From a Phase 2 Randomized Trial of Pozelimab and Cemdisiran Combination in Patients With Paroxysmal Nocturnal Hemoglobinuria.

EJHaem
2025

Patient-Reported Meaningful Change in Symptoms and Impacts of Paroxysmal Nocturnal Hemoglobinuria (PNH) in Three Phase III Clinical Trials of Iptacopan.

The patient
2025

A decade of acquired aplastic anemia: insights from a Central South African Center.

The Pan African medical journal
2025

Treatment burden in patients with paroxysmal nocturnal hemoglobinuria: an in-depth interview survey.

Annals of hematology
2025

Crovalimab: A Novel Approach in the Management of Paroxysmal Nocturnal Hemoglobinuria.

Health science reports
2025

The incidence of paroxysmal nocturnal hemoglobinuria cell clones in the Nordic countries.

Annals of hematology
2025

Long-term effectiveness and safety of ravulizumab in paroxysmal nocturnal hemoglobinuria: a plain language summary.

Journal of comparative effectiveness research
2026

Hematopoietic stem cell transplantation is effective in achieving long-term survival for post-aplastic anemia myeloid neoplasms: the EBMT Severe Aplastic Anemia Report.

Haematologica
2025

[Pharmacological characteristics and clinical study results of danicopan (Voydeya® tablets)].

Nihon yakurigaku zasshi. Folia pharmacologica Japonica
2025

Navigating the paroxysmal nocturnal hemoglobinuria (PNH) landscape.

Clinical advances in hematology &amp; oncology : H&amp;O
2025

Whole blood thrombin generation hypercoagulable profile in a patient with hemolytic crisis due to paroxysmal nocturnal hemoglobinuria: a case report.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2025

The Silent Culprit: Paroxysmal Nocturnal Hemoglobinuria Masquerading as Cryptogenic Stroke.

Cureus
2025

First-in-Class Clinically Investigated Oral Factor D Inhibitors for the Treatment of Complement-Mediated Diseases.

Pharmaceutical research
2025

Model-Informed Precision Dosing of Eculizumab in Patients with Paroxysmal Nocturnal Hemoglobinuria.

Clinical pharmacokinetics
2025

The Silent Masquerader: Paroxysmal Nocturnal Hemoglobinuria Revealed.

The Journal of the Association of Physicians of India
2024

[Recent advances in the treatment of paroxystic nocturnal hemoglobinuria].

La Revue du praticien
2025

Red Blood Cells are Critical for Hemostasis and Thrombosis.

Seminars in thrombosis and hemostasis
2025

Two Cases of Crovalimab-Induced Platelet Recovery in Bone Marrow Failure-Associated Paroxysmal Nocturnal Hemoglobinuria (PNH).

Cureus
2025

Patient-reported outcomes in patients with paroxysmal nocturnal hemoglobinuria treated with crovalimab and approved C5 inhibitors in the phase III COMMODORE 2 and 1 studies.

Annals of hematology
2025

RBPJ/PAF1 Signaling Axis Promotes Cloning Expansion in Paroxysmal Nocturnal Hemoglobinuria Through NOTCH Signaling.

International journal of laboratory hematology
2025

Direct oral anticoagulants as secondary prophylaxis of venous thromboembolism in paroxysmal nocturnal hemoglobinuria: an Italian monocentric experience.

Journal of thrombosis and thrombolysis
2025

[A case of paroxysmal nocturnal hemoglobinuria treated with eculizumab in unintended pregnancy].

Zhonghua nei ke za zhi
2025

Efficient production of functional proaerolysin in E. coli.

Protein expression and purification
2025

[Correlation between complement deposition levels on blood cells and clinical biomarkers in patients with paroxysmal nocturnal hemoglobinuria].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2025

Effectiveness of Iptacopan Versus C5 Inhibitors in Complement Inhibitor-Naive Patients With Paroxysmal Nocturnal Haemoglobinuria.

EJHaem
2025

Real-World Evidence of the Disease Burden and Economic Impact of Paroxysmal Nocturnal Hemoglobinuria in Italy.

Journal of clinical medicine
2025

Design, Synthesis, and Biological Evaluation of a Novel Long-Acting Human Complement C3 Inhibitor Synthesized via the PASylation-Lipidation Modular (PLM) Platform.

Bioconjugate chemistry
2025

[Limitations and challenges of glucocorticoids in the treatment of paroxysmal nocturnal hemoglobinuria].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2025

Advancements in complement inhibition for PNH and primary complement-mediated thrombotic microangiopathy.

Blood advances
2025

[Clinical and Laboratory Characteristics of Cold Agglutinin Disease Patients with Positive Results of Acidified-Serum Lysis Test].

Zhongguo shi yan xue ye xue za zhi
2025

Comparison of monoclonal antibody to CD59 for the diagnosis of paroxysmal nocturnal hemoglobinuria by flow cytometry.

Cytometry. Part B, Clinical cytometry
2025

Complement dysregulation at lymphatics.

The Journal of allergy and clinical immunology
2025

What are the most important quality of life domains for patients with aplastic anemia and paroxysmal nocturnal hemoglobinuria?

Annals of hematology
2025

Current view on the etiopathogenesis of aplastic anemia.

The Korean journal of physiology &amp; pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology
2025

Anchored Indirect Treatment Comparison Finds Comparable Effects of Pegcetacoplan and Iptacopan in Paroxysmal Nocturnal Haemoglobinuria.

European journal of haematology
2025

Dose Adjustments of Pegcetacoplan in a Patient With Paroxysmal Nocturnal Hemoglobinuria Undergoing Surgery: A Case Report.

Cureus
2025

Characterizing clinically significant extravascular hemolysis in adults with PNH on ravulizumab or eculizumab treatment.

Blood advances
2025

The Advancing Landscape of Paroxysmal Nocturnal Hemoglobinuria Treatment.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2025

Flow Cytometric Bone Marrow Evaluation in Suspected Myelodysplastic Neoplasms.

Current protocols
2025

Red blood cells undergo lytic programmed cell death involving NLRP3.

Cell
2025

[Efficacy of iptacopan monotherapy for suboptimal response to eculizumab in patients with paroxysmal nocturnal hemoglobinuria].

Terapevticheskii arkhiv
2025

Breakthrough hemolysis in paroxysmal nocturnal hemoglobinuria throughout clinical trials: from definition to clinical practice.

Blood
2025

The efficacy of immunosuppressive therapy with or without thrombopoietin receptor agonist in elderly patients with severe aplastic anemia.

Annals of hematology
2025

Warren Alpert Medical School of Brown University: Clinicopathologic Conference: September 20th, 2024. A Woman in her 20s with Abdominal Pain, Anemia and Thrombocytopenia.

Journal of Brown hospital medicine
2025

[Unrelated bone marrow transplantation for acute myeloid leukemia evolved from paroxysmal nocturnal hemoglobinuria].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2025

Short-term recurrent coronary artery thrombosis with acute myocardial infarction in a patient with aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome: a case report.

Frontiers in cardiovascular medicine
2025

Prevention and Management of Thromboembolism in Patients with Paroxysmal Nocturnal Hemoglobinuria in Asia: A Narrative Review.

International journal of molecular sciences
2025

EPYSQLI (SB12; Biosimilar to Reference Eculizumab) in Asian and Non-Asian Patients With Paroxysmal Nocturnal Hemoglobinuria: Subgroup Analysis of a Global Phase III Randomized Controlled Trial.

EJHaem
2025

Crovalimab: a new era in paroxysmal nocturnal hemoglobinuria management.

Annals of medicine and surgery (2012)
2025

FDA approval of crovalimab: a milestone in paroxysmal nocturnal hemoglobinuria treatment.

Annals of medicine and surgery (2012)
2025

Initial management of patients with acquired aplastic anemia in the United States: results from a large national claims database.

Annals of hematology
2025

Pathogenesis of paroxysmal nocturnal hemoglobinuria.

Blood
2025

Somatic mutations in Brazilian patients with paroxysmal nocturnal hemoglobinuria: a comprehensive analysis.

Frontiers in medicine
2025

[Advances in complement inhibition therapy for paroxysmal nocturnal hemoglobinuria].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2025

A Rare Cause of Recurrent Abdominal Pain.

Gastroenterology
2025

Pegcetacoplan for Breakthrough Hemolysis in an Adolescent With Classical Paroxysmal Nocturnal Hemoglobinuria on Eculizumab.

Pediatric blood &amp; cancer
2025

Factor B as a therapeutic target for the treatment of complement-mediated diseases.

Frontiers in immunology
2025

Meningococcal Sepsis in Patient with Paroxysmal Nocturnal Hemoglobinuria during Pegcetacoplan Therapy.

Emerging infectious diseases
2025

Ravulizumab and other complement inhibitors for the treatment of autoimmune disorders.

Multiple sclerosis and related disorders
2025

The Path to Accessible Care: Development and Impact of Eculizumab Biosimilars for Paroxysmal Nocturnal Hemoglobinuria and Atypical Hemolytic Uremic Syndrome.

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy
2025

Development and application of UHPLC-MS/MS method to quantify eculizumab in PNH patients.

Journal of pharmaceutical and biomedical analysis
2025

Discovery of a second, distinct development pattern of leukemic conversion from paroxysmal nocturnal hemoglobinuria.

International journal of hematology
2025

Thrombosis at Unusual Sites: Focus on Myeloproliferative Neoplasms and Paroxysmal Nocturnal Hemoglobinuria.

Hamostaseologie
2024

Direct Oral Anticoagulants and Paroxysmal Nocturnal Hemoglobinuria: A Systematic Review and Update on Evidence.

Cureus
2025

Modulating the complement system through epitope-specific inhibition by complement C3 inhibitors.

The Journal of biological chemistry
2025

Unraveling the Mysteries: Paroxysmal Nocturnal Hemoglobinuria and Its Unexpected Link to Stroke in Young Adult.

The Journal of the Association of Physicians of India
2025

Eculizumab treatment for Chinese patients with hemolytic paroxysmal nocturnal hemoglobinuria (PNH): efficacy and safety - a single-center study.

Hematology (Amsterdam, Netherlands)
2024

Adverse drug events (ADEs) risk signal mining related to eculizumab based on the FARES database.

Frontiers in pharmacology
2025

Ravulizumab demonstrates long-term efficacy, safety and favorable patient survival in patients with paroxysmal nocturnal hemoglobinuria.

Annals of hematology
2024

Current status and perspectives of hematopoietic cell transplantation in patients with paroxysmal nocturnal hemoglobinuria.

Frontiers in immunology
2024

More Than a Haematoma: A Case of Aplastic Anemia.

Cureus
2025

Patient-reported improvements in paroxysmal nocturnal hemoglobinuria treated with iptacopan from 2 phase 3 studies.

Blood advances
2024

[Interpretation of the guidelines for diagnosing and treating paroxysmal nocturnal hemoglobinuria in China (2024)].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2024

[Clinical observation of allogeneic hematopoietic stem cell transplantation for treating five cases of classic paroxysmal nocturnal hemoglobinuria].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2024

[Paroxysmal Nocturnal Hemoglobinuria: A Rare but Treatable Cause of Acute Kidney Injury. Case Report].

Revista medica de Chile
2025

Proximal complement inhibitors in paroxysmal nocturnal hemoglobinuria: an abundance of options in a rare disease.

Expert review of hematology
2024

Current landscape of paroxysmal nocturnal hemoglobinuria in the era of complement inhibitors and regulators.

Therapeutic advances in hematology
2025

Long-term efficacy and safety of danicopan as add-on therapy to ravulizumab or eculizumab in PNH with significant EVH.

Blood
2025

Concurrent Loss of CD16 in Granulocytes and CD14 in Mature Monocytes in a Patient With Pancytopenia: A Diagnostic Clue for Paroxysmal Nocturnal Hemoglobinuria.

International journal of laboratory hematology
2024

Expert consensus on the management of pharmacodynamic breakthrough-hemolysis in treated paroxysmal nocturnal hemoglobinuria.

Hematology (Amsterdam, Netherlands)
2025

Pegcetacoplan: the first and only C3-targeted therapy for the treatment of adults with paroxysmal nocturnal hemoglobinuria.

Expert review of hematology
2025

The Importance of Controlling Terminal Complement Activity and Intravascular Hemolysis in Paroxysmal Nocturnal Hemoglobinuria (PNH).

American journal of hematology
2024

Advancements in PNH treatment: crovalimab's clinical efficacy.

Annals of medicine and surgery (2012)
2024

An Unusual Case of Relapsing and Remitting Acute Kidney Injury.

Indian journal of nephrology
2024

Crovalimab in the paroxysmal nocturnal hemoglobinuria treatment landscape.

Immunotherapy
2024

Population Pharmacokinetic and Pharmacokinetic/Pharmacodynamic Analyses of Pegcetacoplan in Patients with Paroxysmal Nocturnal Hemoglobinuria.

Drugs in R&amp;D
2025

Terminal complement inhibition and control of hemolysis in patients with paroxysmal nocturnal hemoglobinuria who switched from high-dose eculizumab to ravulizumab: a phase IV, single-arm clinical trial.

Haematologica
2024

Monitoring and Treatment of Paroxysmal Nocturnal Hemoglobinuria in Patients with Aplastic Anemia in Asia: An Expert Consensus.

International journal of molecular sciences
2024

Thrombosis in Paroxysmal Nocturnal Hemoglobinuria (PNH): From Pathogenesis to Treatment.

International journal of molecular sciences
2024

Fluorescent Aerolysin (FLAER) Binding Is Abnormally Low in the Clonal Precursors of Acute Leukemias, with Binding Particularly Low or Absent in Acute Promyelocytic Leukemia.

International journal of molecular sciences
Ver todos os 2.205 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Hemoglobinúria paroxística noturna e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Protocolo oficial do Ministério da SaúdePCDT: Hemoglobinúria Paroxística Noturna

Este é o documento que organiza diagnóstico, tratamento e dispensação de Hemoglobinúria paroxística noturna no SUS. O que a farmácia entrega é o que está no PCDT vigente — não o que foi aprovado fora do Brasil.

Respostas geradas por IA a partir das fontes citadas

A HPN é causada por mutações somáticas adquiridas em genes como PIGA ou PIGT nas células da medula óssea. Esse defeito compromete as âncoras de proteção celular e permite que o sistema complemento destrua as hemácias.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

10 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. ORPHA:447
    Orphanet
  2. Hemoglobinúria Paroxística Noturna (HPN)
    PCDT · Ministério da Saúde
  3. GARD:7337
    GARD (NIH)
  4. Q1479494
    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.

Citar este verbete

Raras. (s.d.). Hemoglobinúria paroxística noturna. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/hemoglobinuria-paroxistica-noturna

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Hemoglobinúria paroxística noturna

ORPHA:447 · MONDO:0100244
🇧🇷 Brasil SUS
CEAF
1AEculizumabe
Geral
Prevalência
1-9 / 100 000
Herança
Not applicable
CID-10
D59.5 · Hemoglobinúria paroxística noturna [Marchiafava-Micheli]
CID-11
Ensaios
65 ativos
Início
All ages
Prevalência
3.81 (United Kingdom)
MedGen
UMLS
C0019050
EuropePMC
Wikidata
Wikipedia
Papers 10a
Evidência
🥇 Meta-análise

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Medicamentos aprovados FDA
fonte: FDA OpenFDA
Rara