# Artrite juvenil idiopática de início sistêmico

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

## Identificadores

- **ORPHA**: 85414 — https://www.orpha.net/en/disease/detail/85414
- **CID-10**: M08.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A Artrite Idiopática Juvenil Sistêmica é marcada pela gravidade dos sintomas que aparecem fora das articulações (como febre e manchas na pele) e por afetar igualmente meninos e meninas.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Multigenic/multifactorial, Unknown

## Sinais e sintomas (22 fenótipos HPO)

- **Derrame pleural** — HPO: HP:0002202 (Ocasional (29-5%))
- **Artrite** — HPO: HP:0001369 (Muito frequente (99-80%))
- **Artralgia** — HPO: HP:0002829 (Muito frequente (99-80%))
- **Glomerulonefrite** — HPO: HP:0000099 (Ocasional (29-5%))
- **Uveíte anterior** — HPO: HP:0012122 (Ocasional (29-5%))
- **Erupção cutânea** — HPO: HP:0000988 (Muito frequente (99-80%))
- **Pericardite** — HPO: HP:0001701 (Ocasional (29-5%))
- **Pressão elevada da artéria pulmonar** — HPO: HP:0004890 (Ocasional (29-5%))
- **Hepatomegalia** — HPO: HP:0002240 (Ocasional (29-5%))
- **Linfadenopatia** — HPO: HP:0002716 (Frequente (79-30%))
- **Autoimunidade** — HPO: HP:0002960 (Muito frequente (99-80%))
- **Dor abdominal** — HPO: HP:0002027 (Ocasional (29-5%))
- **Osteopenia** — HPO: HP:0000938 (Ocasional (29-5%))
- **Atraso de crescimento** — HPO: HP:0001510 (Ocasional (29-5%))
- **Artrite reumatoide juvenil** — HPO: HP:0005681 (Muito frequente (99-80%))
- **Aumento da concentração circulante de ferritina** — HPO: HP:0003281 (Ocasional (29-5%))
- **Concentração elevada de proteína C-reativa circulante** — HPO: HP:0011227 (Muito frequente (99-80%))
- **Esplenomegalia** — HPO: HP:0001744 (Ocasional (29-5%))
- **Inchaço articular** — HPO: HP:0001386 (Muito frequente (99-80%))
- **Meningite não infecciosa** — HPO: HP:0033430 (Ocasional (29-5%))
- **Taxa de sedimentação de eritrócitos elevada** — HPO: HP:0003565 (Muito frequente (99-80%))
- **Febre** — HPO: HP:0001945 (Muito frequente (99-80%))

## Genes associados (4)

- **MIF** — Anti-Muellerian hormone [Major susceptibility factor 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
- **HLA-DRB1** — HLA class II histocompatibility antigen, DRB1 beta chain [Major susceptibility factor 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
- **LACC1** — Purine nucleoside phosphorylase LACC1 [Disease-causing germline mutation(s) 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 [Major susceptibility factor 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

## Ensaios clínicos ativos (9)

- **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
- **NCT04088396** [RECRUITING]: A Study of Baricitinib (LY3009104) in Participants From 1 Year to Less Than 18 Years Old With Systemic Juvenile Idiopathic Arthritis (sJIA) — https://clinicaltrials.gov/study/NCT04088396
- **NCT05609630** [RECRUITING]: Study of Oral Upadacitinib and Subcutaneous/Intravenous Tocilizumab to Evaluate Change in Disease Activity, Adverse Events and How Drug Moves Through the Body of Pediatric and Adolescent Participants With Active Systemic Juvenile Idiopathic Arthritis. — https://clinicaltrials.gov/study/NCT05609630
- **NCT06838143** [RECRUITING]: Ilaris NIS in Korea — https://clinicaltrials.gov/study/NCT06838143
- **NCT01962415** [RECRUITING]: Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT — https://clinicaltrials.gov/study/NCT01962415
- **NCT05925452** [RECRUITING]: To Evaluate the Efficacy and Safety of Genalumab for Injection in the Treatment of Active Systemic Juvenile Idiopathic Arthritis. — https://clinicaltrials.gov/study/NCT05925452
- **NCT07517250** [NOT_YET_RECRUITING]: A Study on the Use of Canakinumab Among Familial Mediterranean Fever and Still's Disease Patients — https://clinicaltrials.gov/study/NCT07517250
- **NCT06718049** [NOT_YET_RECRUITING]: Role of Interleukin 18 (IL-18) and Interleukin 18 Binding Protein (IL-18BP) in the Diagnostic Work-up of Systemic Juvenile Idiopathic Arthritis and Autoinflammatory Diseases: Possible Biomarkers in the Differential Diagnosis of Other Febrile Diseases — https://clinicaltrials.gov/study/NCT06718049
- **NCT00339157** [COMPLETED]: Interleukin-1 Receptor Antagonist (IL-1RA) (ANAKINRA) IN SEVERE SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS — https://clinicaltrials.gov/study/NCT00339157

## Doenças relacionadas (por similaridade fenotípica)

- [Artrite juvenil idiopática](https://raras.org/doenca/artrite-juvenil-idiopatica) — ORPHA:92 — 22 sintomas em comum
- [Doença de Still de início no adulto](https://raras.org/doenca/doenca-de-still-de-inicio-no-adulto) — ORPHA:829 — 15 sintomas em comum
- [NÃO RARA NA EUROPA: Artrite reumatoide](https://raras.org/doenca/nao-rara-na-europa-artrite-reumatoide) — ORPHA:284130 — 13 sintomas em comum
- [Brucelose](https://raras.org/doenca/brucelose) — ORPHA:1304 — 13 sintomas em comum
- [Doença de Behçet](https://raras.org/doenca/doenca-de-behcet) — ORPHA:117 — 12 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 12 sintomas em comum
- [Febre Q](https://raras.org/doenca/781) — ORPHA:781 — 12 sintomas em comum
- [Febre mediterrânica familiar](https://raras.org/doenca/febre-mediterranica-familiar) — ORPHA:342 — 12 sintomas em comum
- [Vasculite associada a anticorpos anti-neutrófilo citoplasmáticos (ANCA)](https://raras.org/doenca/vasculite-associada-a-anticorpos-anti-neutrofilo-citoplasmaticos-anca) — ORPHA:156152 — 11 sintomas em comum
- [Síndrome linfoproliferativo autoimune](https://raras.org/doenca/sindrome-linfoproliferativo-autoimune) — ORPHA:3261 — 11 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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