# Síndrome hemolítico-urêmico

> Página oficial: https://raras.org/doenca/sindrome-hemolitico-uremico
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 544458 — https://www.orpha.net/en/disease/detail/544458
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um problema repentino nos rins, associado a um tipo de anemia onde os glóbulos vermelhos são destruídos nos vasinhos (pequenos vasos sanguíneos), e com plaquetas baixas.

## Epidemiologia e herança


## Sinais e sintomas (103 fenótipos HPO)

- **Hiponatremia** — HPO: HP:0002902
- **Hipocalemia** — HPO: HP:0002900
- **Desidratação** — HPO: HP:0001944
- **Reticulocitose** — HPO: HP:0001923
- **Edema generalizado** — HPO: HP:0007430
- **Crise hipertensiva** — HPO: HP:0100735
- **Oligúria** — HPO: HP:0100520
- **Bacteremia** — HPO: HP:0031864
- **Infecção viral grave** — HPO: HP:0031691
- **Palidez** — HPO: HP:0000980
- **Irritabilidade** — HPO: HP:0000737
- **Deficiência visual cerebral** — HPO: HP:0100704
- **Abscesso cerebral** — HPO: HP:0030049
- **Vômitos** — HPO: HP:0002013
- **Pancreatite** — HPO: HP:0001733
- **Débito urinário diminuído** — HPO: HP:0011037
- **Diarreia sanguinolenta** — HPO: HP:0025085
- **Sonolência diurna excessiva** — HPO: HP:0001262
- **Hiperbilirrubinemia não conjugada** — HPO: HP:0008282
- **Via alternativa do complemento disfuncional** — HPO: HP:0005423
- **Empiema pleural** — HPO: HP:0011919
- **Convulsão** — HPO: HP:0001250
- **Diabetes mellitus** — HPO: HP:0000819
- **Pneumonia** — HPO: HP:0002090
- **Náusea** — HPO: HP:0002018
- **Meningite** — HPO: HP:0001287
- **Edema** — HPO: HP:0000969
- **Cãibras abdominais** — HPO: HP:0032155
- **Aumento da concentração circulante de interleucina 6** — HPO: HP:0030783
- **Infecção do trato respiratório** — HPO: HP:0011947
- **Anormalidade da secreção de interferon** — HPO: HP:0011116
- **Dor abdominal** — HPO: HP:0002027
- **Diarreia** — HPO: HP:0002014
- **Anormalidade do sistema nervoso** — HPO: HP:0000707
- **Infecção grave** — HPO: HP:0032169
- **Fadiga** — HPO: HP:0012378
- **Estenose colônica** — HPO: HP:0012851
- **Peritonite** — HPO: HP:0002586
- **Prolapso retal** — HPO: HP:0002035
- **Infarto do miocárdio** — HPO: HP:0001658
- _...e mais 63 sintomas. Ver https://raras.org/doenca/sindrome-hemolitico-uremico._

## Genes associados (8)

- **C1GALT1C1** — C1GALT1-specific chaperone 1 [Disease-causing germline mutation(s) in]
  - Função: Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specifi
- **CFI** — Complement factor I [Candidate gene tested in]
  - Função: Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha
- **CFB** — Complement factor B [Candidate gene tested in]
  - Função: Precursor of the catalytic component of the C3 and C5 convertase complexes of the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathog
- **CFH** — Complement factor H [Candidate gene tested in]
  - Função: Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self marke
- **DGKE** — Diacylglycerol kinase epsilon [Candidate gene tested in]
  - Função: Membrane-bound diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:15544348, PubMed
- **CD46** — Membrane cofactor protein [Candidate gene tested in]
  - Função: Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in th
- **C3** — Complement C3 [Candidate gene tested in]
  - Função: Precursor of non-enzymatic components of the classical, alternative, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens a
- **THBD** — Thrombomodulin [Candidate gene tested in]
  - Função: Endothelial cell receptor that plays a critical role in regulating several physiological processes including hemostasis, coagulation, fibrinolysis, inflammation, and angiogenesis (PubMed:10761923). Ac

## Medicamentos em desenvolvimento (8)

- RAVULIZUMAB — Fase Phase 4 (Complement C5 inhibitor)
- ECULIZUMAB — Fase Phase 4 (Complement C5 inhibitor)
- NARSOPLIMAB — Fase Phase 3 (Mannan-binding lectin serine protease 2 inhibitor)
- IPTACOPAN — Fase Phase 3 (Complement factor B inhibitor)
- CROVALIMAB — Fase Phase 3 (Complement C5 inhibitor)
- RITUXIMAB — Fase Phase 2 (B-lymphocyte antigen CD20 binding agent)
- CEMDISIRAN — Fase Phase 2 (Complement C5 mRNA RNAi inhibitor)
- AVACOPAN — Fase Phase 2 (C5a anaphylatoxin chemotactic receptor antagonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0001549

## Ensaios clínicos ativos (22)

- **NCT07308574** [RECRUITING]: Post-Marketing Clinical Study of Ravulizumab in Participants With Clinical aHUS — https://clinicaltrials.gov/study/NCT07308574
- **NCT06312644** [RECRUITING]: Study of Ultomiris® (Ravulizumab) Safety in Pregnancy — https://clinicaltrials.gov/study/NCT06312644
- **NCT07218536** [RECRUITING]: The Burden of Atypical Hemolytic Uremic Syndrome and The Clinical Characteristics of Patients in Egyptian Hospitals A Multicenter, Observational, Retrospective Cohort Study in Egypt — https://clinicaltrials.gov/study/NCT07218536
- **NCT05935215** [RECRUITING]: Efficacy and Safety of Switching From Anti-C5 Antibody Treatment to Iptacopan Treatment in Study Participants With Atypical Hemolytic Uremic Syndrome (aHUS) — https://clinicaltrials.gov/study/NCT05935215
- **NCT05996731** [RECRUITING]: Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases — https://clinicaltrials.gov/study/NCT05996731
- **NCT06389474** [RECRUITING]: Efficacy of INM004 in Children With STEC-HUS — https://clinicaltrials.gov/study/NCT06389474
- **NCT04745195** [RECRUITING]: Complement Prospective Evaluation of Thrombotic Microangiopathy on Endothelium — https://clinicaltrials.gov/study/NCT04745195
- **NCT05805202** [RECRUITING]: Functional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy — https://clinicaltrials.gov/study/NCT05805202
- **NCT01522183** [RECRUITING]: Atypical Hemolytic-Uremic Syndrome (aHUS) Registry — https://clinicaltrials.gov/study/NCT01522183
- **NCT05795140** [RECRUITING]: Evaluate Long-term Safety, Tolerability and Efficacy of Iptacopan in Study Participants With aHUS — https://clinicaltrials.gov/study/NCT05795140

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome hemolítico-urêmico infecção-relacionado](https://raras.org/doenca/sindrome-hemolitico-uremico-infeccao-relacionado) — ORPHA:544482 — 68 sintomas em comum
- [Síndrome hemolítico urêmico genético](https://raras.org/doenca/sindrome-hemolitico-uremico-genetico) — ORPHA:576742 — 43 sintomas em comum
- [Microangiopatia trombótica](https://raras.org/doenca/microangiopatia-trombotica) — ORPHA:93573 — 36 sintomas em comum
- [Síndrome hemolítico-urêmico associado a Shiga-toxina](https://raras.org/doenca/sindrome-hemolitico-uremico-associado-a-shiga-toxina) — ORPHA:90038 — 33 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 30 sintomas em comum
- [NÃO RARA NA EUROPA: Trombofilia não rara](https://raras.org/doenca/nao-rara-na-europa-trombofilia-nao-rara) — ORPHA:64738 — 26 sintomas em comum
- [Púrpura trombocitopênica trombótica](https://raras.org/doenca/purpura-trombocitopenica-trombotica) — ORPHA:54057 — 24 sintomas em comum
- [Imunodeficiência por deficiência de um componente da cascata do complemento](https://raras.org/doenca/imunodeficiencia-por-deficiencia-de-um-componente-da-cascata-do-complemento) — ORPHA:459345 — 24 sintomas em comum
- [Febre hemorrágica com nefropatia](https://raras.org/doenca/febre-hemorragica-com-nefropatia) — ORPHA:340 — 24 sintomas em comum
- [Aplasia constitucional medular do adulto](https://raras.org/doenca/aplasia-constitucional-medular-do-adulto) — ORPHA:164823 — 22 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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