# Artrite juvenil idiopática

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

## Identificadores

- **ORPHA**: 92 — https://www.orpha.net/en/disease/detail/92
- **OMIM**: OMIM:604302 — https://omim.org/entry/604302

## Descrição clínica

A Artrite Idiopática Juvenil (AIJ) é o nome dado a um grupo de doenças inflamatórias que afetam as articulações, de causa desconhecida, que começam antes dos 16 anos de idade e duram mais de 6 semanas. O termo artrite idiopática juvenil foi escolhido para indicar que não há um mecanismo conhecido que cause a doença e para ressaltar a necessidade de excluir outros tipos de artrite que surgem em condições médicas específicas (em particular, a artrite associada a doenças infecciosas, inflamatórias e hemato-oncológicas).

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000

## Sinais e sintomas (103 fenótipos HPO)

- **Glaucoma** — HPO: HP:0000501
- **Hepatoesplenomegalia** — HPO: HP:0001433
- **Regurgitação aórtica** — HPO: HP:0001659
- **Dor abdominal** — HPO: HP:0002027
- **Prurido** — HPO: HP:0000989
- **Osteopenia** — HPO: HP:0000938
- **Hipermobilidade articular** — HPO: HP:0001382
- **Tendão de Aquiles espessado** — HPO: HP:0004690
- **Anormalidade da morfologia da epífise** — HPO: HP:0005930
- **Glomerulonefrite** — HPO: HP:0000099
- **Pressão elevada da artéria pulmonar** — HPO: HP:0004890
- **Anormalidade da coluna torácica** — HPO: HP:0100711
- **Catarata** — HPO: HP:0000518
- **Erosões da articulação interfalângica** — HPO: HP:0006252
- **Rigidez articular** — HPO: HP:0001387
- **Anormalidade da morfologia esquelética** — HPO: HP:0011842
- **Morfologia anormal da coluna lombar** — HPO: HP:0100712
- **Dactilite dos dedos** — HPO: HP:0031090
- **Sinequias da câmara anterior** — HPO: HP:0007833
- **Densidade mineral óssea reduzida** — HPO: HP:0004349
- **Inchaço articular** — HPO: HP:0001386
- **Oligoartrite** — HPO: HP:0040313
- **Anormalidade dos tornozelos** — HPO: HP:0003028
- **Pericardite** — HPO: HP:0001701
- **Meningite não infecciosa** — HPO: HP:0033430
- **Morfologia anormal do coração** — HPO: HP:0001627
- **Artrite reumatoide** — HPO: HP:0001370
- **Uveíte não granulomatosa** — HPO: HP:0007813
- **Morfologia metatarsal anormal** — HPO: HP:0001832
- **Mialgia** — HPO: HP:0003326
- **Artrite sacroilíaca** — HPO: HP:0012317
- **Edema do tornozelo** — HPO: HP:0001785
- **Perda de peso** — HPO: HP:0001824
- **Taxa de sedimentação de eritrócitos elevada** — HPO: HP:0003565
- **Anormalidade da coluna cervical** — HPO: HP:0003319
- **Morfologia anormal do pé** — HPO: HP:0001760
- **Derrame pleural** — HPO: HP:0002202
- **Anormalidade da fáscia** — HPO: HP:0100536
- **Uveíte** — HPO: HP:0000554
- **Rash malar** — HPO: HP:0025300
- _...e mais 63 sintomas. Ver https://raras.org/doenca/artrite-juvenil-idiopatica._

## Genes associados (11)

- **MIF** — Anti-Muellerian hormone [Candidate gene tested in]
  - Função: The anti-Muellerian hormone (AMH) plays an important role in several reproductive functions (PubMed:14742691, PubMed:34155118, PubMed:3754790, PubMed:8469238). Anti-Muellerian hormone binds and activa
- **ANKRD55** — Ankyrin repeat domain-containing protein 55 [Candidate gene tested in]
- **PTPN22** — Tyrosine-protein phosphatase non-receptor type 22 [Candidate gene tested in]
  - Função: Acts as a negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other k
- **LACC1** — Purine nucleoside phosphorylase LACC1 [Candidate gene tested in]
  - Função: Purine nucleoside enzyme that catalyzes the phosphorolysis of adenosine, guanosine and inosine nucleosides, yielding D-ribose 1-phosphate and the respective free bases, adenine, guanine and hypoxanthi
- **IL6** — Interleukin-6 [Candidate gene tested in]
  - Função: Cytokine with a wide variety of biological functions in immunity, tissue regeneration, and metabolism. Binds to IL6R, then the complex associates to the signaling subunit IL6ST/gp130 to trigger the in
- **IL2RA** — Interleukin-2 receptor subunit alpha [Candidate gene tested in]
  - Função: Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreacti
- **CD247** — T-cell surface glycoprotein CD3 zeta chain [Candidate gene tested in]
  - Função: Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-medi
- **STAT4** — Signal transducer and activator of transcription 4 [Candidate gene tested in]
  - Função: Transcriptional regulator mainly expressed in hematopoietic cells that plays a critical role in cellular growth, differentiation and immune response (PubMed:10961885, PubMed:37256972, PubMed:8943379).
- **HLA-DRB1** — HLA class II histocompatibility antigen, DRB1 beta chain [Candidate gene tested in]
  - Função: A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting c
- **PTPN2** — Tyrosine-protein phosphatase non-receptor type 2 [Candidate gene tested in]
  - Função: Non-receptor type tyrosine-specific phosphatase that dephosphorylates receptor protein tyrosine kinases including INSR, EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor protein tyrosine kinases
- **IL2RB** — Interleukin-2 receptor subunit beta [Candidate gene tested in]
  - Função: Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation

## Ensaios clínicos ativos (29)

- **NCT06654882** [RECRUITING]: Trial of Sequential Medications AfteR TNFi Failure in Juvenile Idiopathic Arthritis — https://clinicaltrials.gov/study/NCT06654882
- **NCT07087912** [RECRUITING]: Safety and Immunogenicity of the Live Attenuated Tetravalent Butantan-Dengue Vaccine in Autoimmune Rheumatic Diseases — https://clinicaltrials.gov/study/NCT07087912
- **NCT06869551** [RECRUITING]: A Study to Evaluate the Drug Levels, Efficacy, and Safety of Deucravacitinib (BMS-986165) in Pediatric Participants With Juvenile Psoriatic Arthritis — https://clinicaltrials.gov/study/NCT06869551
- **NCT03510442** [RECRUITING]: Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease, and Related Conditions — https://clinicaltrials.gov/study/NCT03510442
- **NCT02991469** [RECRUITING]: A Repeated Dose-finding Study of Sarilumab in Children and Adolescents With Systemic Juvenile Idiopathic Arthritis (SKYPS) — https://clinicaltrials.gov/study/NCT02991469
- **NCT07517575** [RECRUITING]: Pharmacokinetics, Efficacy and Safety of Olokizumab In Patients With Juvenile Idiopathic Arthritis — https://clinicaltrials.gov/study/NCT07517575
- **NCT04833465** [RECRUITING]: Development of a Therapeutic Endpoint in Pediatric Rheumatologic Conditions — https://clinicaltrials.gov/study/NCT04833465
- **NCT05754710** [RECRUITING]: Korea Xeljanz Post-marketing Surveillance for Juvenile Idiopathic Arthritis — https://clinicaltrials.gov/study/NCT05754710
- **NCT07243782** [RECRUITING]: Regulatory Post-Marketing Surveillance in Hidradenitis Suppurativa, Pediatric Plaque Psoriasis and JIA Treated With Cosentyx®(Secukinumab) in Korea — https://clinicaltrials.gov/study/NCT07243782
- **NCT06668181** [RECRUITING]: An Open-label Study to Evaluate the Pharmacokinetics and Safety of Bimekizumab in Pediatric Study Participants With Active Juvenile Idiopathic Arthritis Subtypes Enthesitis-related Arthritis (Including Juvenile-onset Ankylosing Spondylitis) and Juvenile Psoriatic Arthritis — https://clinicaltrials.gov/study/NCT06668181

## Doenças relacionadas (por similaridade fenotípica)

- [Poliartrite juvenil](https://raras.org/doenca/poliartrite-juvenil) — ORPHA:404580 — 45 sintomas em comum
- [NÃO RARA NA EUROPA: Artrite reumatoide](https://raras.org/doenca/nao-rara-na-europa-artrite-reumatoide) — ORPHA:284130 — 44 sintomas em comum
- [Artrite relacionada com entesite](https://raras.org/doenca/artrite-relacionada-com-entesite) — ORPHA:85438 — 34 sintomas em comum
- [Poliartrite sem fator reumatoide](https://raras.org/doenca/poliartrite-sem-fator-reumatoide) — ORPHA:85408 — 31 sintomas em comum
- [Artrite idiopática juvenil psoríase-relacionada](https://raras.org/doenca/artrite-idiopatica-juvenil-psoriase-relacionada) — ORPHA:85436 — 29 sintomas em comum
- [NÃO RARA NA EUROPA: Artrite psoriática](https://raras.org/doenca/nao-rara-na-europa-artrite-psoriatica) — ORPHA:40050 — 29 sintomas em comum
- [Sarcoidose](https://raras.org/doenca/sarcoidose) — ORPHA:797 — 23 sintomas em comum
- [Doença de Still de início no adulto](https://raras.org/doenca/doenca-de-still-de-inicio-no-adulto) — ORPHA:829 — 22 sintomas em comum
- [Artrite juvenil idiopática de início sistêmico](https://raras.org/doenca/artrite-juvenil-idiopatica-de-inicio-sistemico) — ORPHA:85414 — 22 sintomas em comum
- [Osteomielite crônica multifocal recorrente](https://raras.org/doenca/osteomielite-cronica-multifocal-recorrente) — ORPHA:324964 — 21 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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