# Síndrome hemolítico urêmico forma atípica

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

## Identificadores

- **ORPHA**: 2134 — https://www.orpha.net/en/disease/detail/2134
- **CID-10**: D59.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Microangiopatia trombótica genética rara devida à desregulação da via alternativa do complemento e caracterizada pela tríade de anemia hemolítica, trombocitopenia e disfunção renal aguda.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, Not applicable

## Sinais e sintomas (21 fenótipos HPO)

- **Nível de trombomodulina diminuído** — HPO: HP:0040229 (Frequente (79-30%))
- **Anormalidade do sistema complemento** — HPO: HP:0005339 (Frequente (79-30%))
- **Fator B do complemento sérico diminuído** — HPO: HP:0005416 (Frequente (79-30%))
- **Deficiência de complemento** — HPO: HP:0004431 (Frequente (79-30%))
- **Trombocitopenia** — HPO: HP:0001873 (Muito frequente (99-80%))
- **Atividade anormal da lactato desidrogenase** — HPO: HP:0045040 (Muito frequente (99-80%))
- **Hematúria** — HPO: HP:0000790 (Muito frequente (99-80%))
- **Anormalidade do sangue e tecidos hematopoiéticos** — HPO: HP:0001871 (Muito frequente (99-80%))
- **Anormalidade do metabolismo/homeostase** — HPO: HP:0001939 (Muito frequente (99-80%))
- **Anemia hemolítica microangiopática** — HPO: HP:0001937 (Muito frequente (99-80%))
- **Proteinúria** — HPO: HP:0000093 (Muito frequente (99-80%))
- **Lesão renal aguda** — HPO: HP:0001919 (Muito frequente (99-80%))
- **Fator I do complemento sérico diminuído** — HPO: HP:0005356 (Frequente (79-30%))
- **Síndrome hemolítico-urêmica** — HPO: HP:0005575
- **Concentração diminuída de complemento C3 circulante** — HPO: HP:0005421
- **Hipertensão** — HPO: HP:0000822
- **Anemia** — HPO: HP:0001903
- **Anúria** — HPO: HP:0100519
- **Aumento da ureia nitrogenada no sangue** — HPO: HP:0003138
- **Concentração elevada de creatinina circulante** — HPO: HP:0003259
- **Doença renal crônica estágio 5** — HPO: HP:0003774

## Genes associados (7)

- **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
- **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
- **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
- **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
- **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
- **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
- **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

## Medicamentos em desenvolvimento (7)

- 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)
- RAVULIZUMAB — Fase Phase 3 (Complement C5 inhibitor)
- CROVALIMAB — Fase Phase 3 (Complement C5 inhibitor)
- 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_0016244

## Ensaios clínicos ativos (18)

- **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
- **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
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome hemolítico urêmico genético](https://raras.org/doenca/sindrome-hemolitico-uremico-genetico) — ORPHA:576742 — 21 sintomas em comum
- [Microangiopatia trombótica](https://raras.org/doenca/microangiopatia-trombotica) — ORPHA:93573 — 21 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 — 21 sintomas em comum
- [Síndrome hemolítico-urêmico](https://raras.org/doenca/sindrome-hemolitico-uremico) — ORPHA:544458 — 21 sintomas em comum
- [Síndrome hemolítico-urêmico atípico com anomalias dos genes do complemento](https://raras.org/doenca/sindrome-hemolitico-uremico-atipico-com-anomalias-dos-genes-do-complemento) — ORPHA:544472 — 13 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 11 sintomas em comum
- [Glomerulonefrite membrano-proliferativa primária](https://raras.org/doenca/glomerulonefrite-membrano-proliferativa-primaria) — ORPHA:54370 — 10 sintomas em comum
- [NÃO RARA NA EUROPA: Trombofilia não rara](https://raras.org/doenca/nao-rara-na-europa-trombofilia-nao-rara) — ORPHA:64738 — 10 sintomas em comum
- [Púrpura trombocitopênica trombótica](https://raras.org/doenca/purpura-trombocitopenica-trombotica) — ORPHA:54057 — 9 sintomas em comum
- [Doença renal cística genética](https://raras.org/doenca/doenca-renal-cistica-genetica) — ORPHA:93587 — 9 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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