# Pneumonia intersticial idiopática

> Página oficial: https://raras.org/doenca/pneumonia-intersticial-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**: 98300 — https://www.orpha.net/en/disease/detail/98300
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Classe de doenças pulmonares difusas que normalmente afetam o interstício pulmonar, embora algumas também tenham um componente que afeta as vias aéreas (por exemplo, pneumonite em organização criptogênica).

## Epidemiologia e herança


## Sinais e sintomas (97 fenótipos HPO)

- **Opacificação em vidro fosco centrilobular na TC de alta resolução pulmonar** — HPO: HP:0025180
- **Escarro anormal** — HPO: HP:0032016
- **Anorexia** — HPO: HP:0002039
- **Leucocitose** — HPO: HP:0001974
- **Suores noturnos** — HPO: HP:0030166
- **Pneumomediastino** — HPO: HP:0025421
- **Pneumotórax** — HPO: HP:0002107
- **Som respiratório brônquico** — HPO: HP:0031994
- **Neutrofilia** — HPO: HP:0011897
- **Ortodeoxia** — HPO: HP:0033367
- **Insuficiência pulmonar** — HPO: HP:0010444
- **Intolerância ao exercício** — HPO: HP:0003546
- **Baqueteamento dos dedos** — HPO: HP:0100759
- **Morfologia intersticial pulmonar anormal** — HPO: HP:0006530
- **Refluxo gastroesofágico** — HPO: HP:0002020
- **Acrocianose** — HPO: HP:0001063
- **Capacidade vital forçada reduzida** — HPO: HP:0032341
- **Pneumonia intersticial usual** — HPO: HP:0031950
- **Padrão reticular na TC de alta resolução pulmonar** — HPO: HP:0025390
- **Dispneia de esforço** — HPO: HP:0002875
- **Pneumonia intersticial linfoide** — HPO: HP:0006527
- **Estenose da valva aórtica** — HPO: HP:0001650
- **Pneumonite intersticial descamativa** — HPO: HP:0005942
- **Infecções recorrentes do trato respiratório superior** — HPO: HP:0002788
- **Desconforto respiratório** — HPO: HP:0002098
- **Fibrose túbulo-intersticial** — HPO: HP:0005576
- **Cor pulmonale** — HPO: HP:0001648
- **Anormalidade do metabolismo/homeostase** — HPO: HP:0001939
- **Hipertrofia de pneumócitos tipo II** — HPO: HP:0033246
- **Pneumonia** — HPO: HP:0002090
- **Início** — HPO: HP:0003674
- **Cicatrizes** — HPO: HP:0100699
- **Linfadenopatia** — HPO: HP:0002716
- **Bronquite crônica** — HPO: HP:0004469
- **Crepitações inspiratórias** — HPO: HP:0031996
- **Hematócrito reduzido** — HPO: HP:0031851
- **Mialgia** — HPO: HP:0003326
- **Concentração elevada de creatinina circulante** — HPO: HP:0003259
- **Derrame pericárdico** — HPO: HP:0001698
- **Espessamento intersticial peribroncovascular** — HPO: HP:0025177
- _...e mais 57 sintomas. Ver https://raras.org/doenca/pneumonia-intersticial-idiopatica._

## Genes associados (14)

- **SFTPC** — Surfactant protein C [Candidate gene tested in]
  - Função: Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces
- **TERT** — Telomerase reverse transcriptase [Candidate gene tested in]
  - Função: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somati
- **PARN** — Poly(A)-specific ribonuclease PARN [Candidate gene tested in]
  - Função: 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of
- **TERC** [Candidate gene tested in]
- **DPP9** — Dipeptidyl peptidase 9 [Candidate gene tested in]
  - Função: Dipeptidyl peptidase that cleaves off N-terminal dipeptides from proteins having a Pro or Ala residue at position 2 (PubMed:12662155, PubMed:16475979, PubMed:19667070, PubMed:29382749, PubMed:30291141
- **FAM13A** — Protein FAM13A [Candidate gene tested in]
- **SFTPA2** — Pulmonary surfactant-associated protein A2 [Candidate gene tested in]
  - Função: In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for nor
- **MUC5B** — Mucin-5B [Candidate gene tested in]
  - Função: Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus
- **DSP** — Desmoplakin [Candidate gene tested in]
  - Função: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:25733715). Critical for cell-cell adhesion in early stage blastocysts and progressi
- **SFTPA1** — Pulmonary surfactant-associated protein A1 [Candidate gene tested in]
  - Função: In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for nor
- **STN1** — CST complex subunit STN1 [Candidate gene tested in]
  - Função: Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere d
- **ABCA3** — Phospholipid-transporting ATPase ABCA3 [Candidate gene tested in]
  - Função: Catalyzes the ATP-dependent transport of phospholipids such as phosphatidylcholine and phosphoglycerol from the cytoplasm into the lumen side of lamellar bodies, in turn participates in the lamellar b
- **RTEL1** — Regulator of telomere elongation helicase 1 [Candidate gene tested in]
  - Função: A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and l
- **ATP11A** — Phospholipid-transporting ATPase IH [Candidate gene tested in]
  - Função: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), f

## Ensaios clínicos ativos (5)

- **NCT05365802** [RECRUITING]: FAPI PET for Lung Fibrosis — https://clinicaltrials.gov/study/NCT05365802
- **NCT04896138** [ENROLLING_BY_INVITATION]: University of Virginia Natural History Study — https://clinicaltrials.gov/study/NCT04896138
- **NCT03041623** [ACTIVE_NOT_RECRUITING]: Japanese Idiopathic Interstitial Pneumonias Registry — https://clinicaltrials.gov/study/NCT03041623
- **NCT03747627** [ACTIVE_NOT_RECRUITING]: BPF Genetics of ILD Study — https://clinicaltrials.gov/study/NCT03747627
- **NCT02951416** [ACTIVE_NOT_RECRUITING]: Clinical Course of Interstitial Lung Diseases: European IPF Registry and Biobank — https://clinicaltrials.gov/study/NCT02951416
- **NCT02036970** [COMPLETED]: Bardoxolone Methyl Evaluation in Patients With Pulmonary Hypertension (PH) - LARIAT — https://clinicaltrials.gov/study/NCT02036970
- **NCT03836417** [COMPLETED]: Molecular Diagnosis of Idiopathic Interstitial Pneumonias: a Prospective Study — https://clinicaltrials.gov/study/NCT03836417
- **NCT03142191** [TERMINATED]: A Study to Evaluate the Efficacy and Safety of CC-90001 in Subjects With Idiopathic Pulmonary Fibrosis — https://clinicaltrials.gov/study/NCT03142191
- **NCT05146934** [COMPLETED]: The Relationship Between Hormone Sensitivity and Imaging of Idiopathic Interstitial Pneumonia by Artificial Intelligence — https://clinicaltrials.gov/study/NCT05146934
- **NCT01088217** [UNKNOWN]: Role of Genetics in Idiopathic Pulmonary Fibrosis (IPF) — https://clinicaltrials.gov/study/NCT01088217

## Doenças relacionadas (por similaridade fenotípica)

- [Pneumoconiose](https://raras.org/doenca/pneumoconiose) — ORPHA:182098 — 40 sintomas em comum
- [Pneumonia intersticial linfoide](https://raras.org/doenca/pneumonia-intersticial-linfoide) — ORPHA:79128 — 37 sintomas em comum
- [Pneumonia intersticial aguda](https://raras.org/doenca/pneumonia-intersticial-aguda) — ORPHA:79126 — 33 sintomas em comum
- [Pneumopatia criptogênica organizada](https://raras.org/doenca/pneumopatia-criptogenica-organizada) — ORPHA:1302 — 29 sintomas em comum
- [Miopatia e fasciite inflamatórias adquiridas](https://raras.org/doenca/miopatia-e-fasciite-inflamatorias-adquiridas) — ORPHA:98482 — 27 sintomas em comum
- [Proteinose congênita dos alvéolos pulmonares](https://raras.org/doenca/proteinose-congenita-dos-alveolos-pulmonares) — ORPHA:264675 — 27 sintomas em comum
- [Microlitíase alveolar pulmonar](https://raras.org/doenca/microlitiase-alveolar-pulmonar) — ORPHA:60025 — 24 sintomas em comum
- [Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita](https://raras.org/doenca/anomalia-dos-grandes-vasos-aorta-arco-aortico-arterias-pulmonares-congenita) — ORPHA:98724 — 23 sintomas em comum
- [Discinesia ciliar primária](https://raras.org/doenca/discinesia-ciliar-primaria) — ORPHA:244 — 23 sintomas em comum
- [Intoxicação por amianto](https://raras.org/doenca/intoxicacao-por-amianto) — ORPHA:2302 — 23 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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