# Fibrose cística

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

## Identificadores

- **ORPHA**: 586 — https://www.orpha.net/en/disease/detail/586
- **CID-10**: E84.0
- **OMIM**: OMIM:219700 — https://omim.org/entry/219700

## Descrição clínica

A fibrose cística (FC) é uma doença genética caracterizada pela produção de suor com alta concentração de sal e de secreções mucosas com uma viscosidade anormal.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (56 fenótipos HPO)

- **Infecções recorrentes por Aspergillus** — HPO: HP:0002724 (Ocasional (29-5%))
- **Herança autossômica recessiva** — HPO: HP:0000007
- **Início na infância** — HPO: HP:0011463 (Frequência: 1/7)
- **Início na infância** — HPO: HP:0003593 (Frequência: 6/7)
- **Pancreatite** — HPO: HP:0001733 (Frequência: 2/21)
- **Hepatoesplenomegalia** — HPO: HP:0001433 (Frequência: 2/71)
- **Baqueteamento dos dedos** — HPO: HP:0100759 (Frequência: 9/21)
- **Pele com sabor salgado** — HPO: HP:6000725 (Frequência: 21/49)
- **Sinusite crônica** — HPO: HP:0011109 (Frequência: 59/112)
- **Hipercalciúria** — HPO: HP:0002150
- **Diferença de potencial nasal transepitelial hiperpolarizada** — HPO: HP:6000100
- **Íleo** — HPO: HP:0002595 (Frequência: 3/71)
- **Infecções broncopulmonares recorrentes** — HPO: HP:0006538
- **Diarreia** — HPO: HP:0002014 (Frequência: 15/71)
- **Cirrose biliar** — HPO: HP:0002613
- **Pneumonia recorrente** — HPO: HP:0006532 (Frequência: 8/21)
- **Cor pulmonale** — HPO: HP:0001648 (Frequência: 1/7)
- **Capacidade vital forçada reduzida** — HPO: HP:0032341 (Frequência: 5/21)
- **Fluxo expiratório forçado diminuído 25-75%** — HPO: HP:0032359 (Frequência: 15/21)
- **Hepatomegalia** — HPO: HP:0002240 (Frequência: 1/71)
- **Doença pulmonar crônica** — HPO: HP:0006528
- **Desidratação** — HPO: HP:0001944 (Ocasional (29-5%))
- **Infecções recorrentes do trato respiratório inferior** — HPO: HP:0002783 (Ocasional (29-5%))
- **Prolapso retal** — HPO: HP:0002035 (Ocasional (29-5%))
- **Concentração elevada de transaminase hepática circulante** — HPO: HP:0002910 (Ocasional (29-5%))
- **Bronquiectasia** — HPO: HP:0002110 (Muito frequente (99-80%))
- **Anormalidade do fígado** — HPO: HP:0001392 (Ocasional (29-5%))
- **Obstrução das vias aéreas** — HPO: HP:0006536 (Muito frequente (99-80%))
- **Esteatorreia** — HPO: HP:0002570 (Ocasional (29-5%))
- **Déficit de crescimento** — HPO: HP:0001508 (Frequente (79-30%))
- **Depressão** — HPO: HP:0000716 (Ocasional (29-5%))
- **Infecções recorrentes por Staphylococcus aureus** — HPO: HP:0002726 (Ocasional (29-5%))
- **Refluxo gastroesofágico** — HPO: HP:0002020 (Ocasional (29-5%))
- **Cirrose** — HPO: HP:0001394 (Raro (<5%))
- **Sinusite** — HPO: HP:0000246 (Ocasional (29-5%))
- **Infecções respiratórias recorrentes** — HPO: HP:0002205 (Muito frequente (99-80%))
- **Infecção pulmonar por micobactérias não tuberculosas** — HPO: HP:0032261 (Raro (<5%))
- **Infecções recorrentes por Burkholderia cepacia** — HPO: HP:0002842 (Raro (<5%))
- **Cloreto elevado no suor** — HPO: HP:0012236 (Muito frequente (99-80%))
- **Osteoporose** — HPO: HP:0000939 (Raro (<5%))
- _...e mais 16 sintomas. Ver https://raras.org/doenca/fibrose-cistica._

## Genes associados (20)

- **SLC6A14** — Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) [Modifying germline mutation in]
  - Função: Amino acid transporter that plays an important role in the absorption of amino acids in the intestinal tract. Mediates the uptake of a broad range of neutral and cationic amino acids (with the excepti
- **FCGR2A** — Low affinity immunoglobulin gamma Fc region receptor II-a [Candidate gene tested in]
  - Função: Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized ant
- **SLC11A1** — Natural resistance-associated macrophage protein 1 [Modifying germline mutation in]
  - Função: Macrophage-specific antiporter that fluxes metal ions in either direction against a proton gradient. Localized to late endosomal lysosomal membranes, delivers bivalent cations from the cytosol into th
- **TGFB1** — Transforming growth factor beta-1 proprotein [Modifying germline mutation in]
  - Função: Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active su
- **EDNRA** — Endothelin-1 receptor [Modifying germline mutation in]
  - Função: Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET
- **MIF** — Anti-Muellerian hormone [Modifying germline mutation 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
- **STX1A** — Syntaxin-1A [Modifying germline mutation in]
  - Função: Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis (PubMed:26635000). Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25,
- **GSTM3** — Glutathione S-transferase Mu 3 [Modifying germline mutation in]
  - Função: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. May govern uptake and detoxification of both endogenous compounds and xenobiotics at the test
- **KCNN4** — Intermediate conductance calcium-activated potassium channel protein 4 [Modifying germline mutation in]
  - Função: Intermediate conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with
- **CFTR** — Cystic fibrosis transmembrane conductance regulator [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the
- **CLCA4** — Calcium-activated chloride channel regulator 4 [Modifying germline mutation in]
  - Função: May be involved in mediating calcium-activated chloride conductance
- **GCLC** — Glutamate--cysteine ligase catalytic subunit [Modifying germline mutation in]
  - Função: Catalyzes the ATP-dependent ligation of L-glutamate and L-cysteine and participates in the first and rate-limiting step in glutathione biosynthesis
- **HFE** — Hereditary hemochromatosis protein [Modifying germline mutation in]
  - Função: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin
- **SLC26A9** — Solute carrier family 26 member 9 [Modifying germline mutation in]
  - Função: Ion transporter that can act both as an ion channel and anion exchanger (PubMed:15800055, PubMed:17673510, PubMed:26801567, PubMed:32818062). Mainly acts as a chloride channel, which mediate uncoupled
- **SLC9A3** — Sodium/hydrogen exchanger 3 [Modifying germline mutation in]
  - Função: Plasma membrane Na(+)/H(+) antiporter (PubMed:18829453, PubMed:26358773, PubMed:35613257). Exchanges intracellular H(+) ions for extracellular Na(+) in 1:1 stoichiometry, playing a key role in salt an

## Medicamentos em desenvolvimento (4)

- LUMACAFTOR — Fase Phase 4 (Cystic fibrosis transmembrane conductance regulator stabiliser)
- IVACAFTOR — Fase Phase 4 (Cystic fibrosis transmembrane conductance regulator positive modulator)
- TEZACAFTOR — Fase Phase 4 (Cystic fibrosis transmembrane conductance regulator positive modulator)
- ATALUREN — Fase Phase 3 (80S Ribosome modulator)
- Fonte: https://platform.opentargets.org/disease/MONDO_0009061

## Ensaios clínicos ativos (30)

- **NCT06413368** [RECRUITING]: Maralixibat in Patients With Cystic Fibrosis and Constipation — https://clinicaltrials.gov/study/NCT06413368
- **NCT00001532** [RECRUITING]: Role of Genetic Factors in the Development of Lung Disease — https://clinicaltrials.gov/study/NCT00001532
- **NCT04530383** [RECRUITING]: Metformin for People With CFRD on CFTR Modulator Therapy to Improve Ion Channel Function — https://clinicaltrials.gov/study/NCT04530383
- **NCT00943514** [RECRUITING]: Natural History of Bronchiectasis — https://clinicaltrials.gov/study/NCT00943514
- **NCT06154447** [RECRUITING]: Evaluation of VX-828 in Healthy Participants and in Participants With Cystic Fibrosis — https://clinicaltrials.gov/study/NCT06154447
- **NCT06603246** [RECRUITING]: A Study to Test the Safety and Effects of Inhaled GDC-6988 in Participants With Muco-obstructive Disease — https://clinicaltrials.gov/study/NCT06603246
- **NCT06995651** [RECRUITING]: Dorzagliatin in Pancreatic Insufficient Cystic Fibrosis — https://clinicaltrials.gov/study/NCT06995651
- **NCT07508904** [RECRUITING]: Exercises' Effect on Muscle Strength, Aerobic Capacity and Respiratory Functions in Cystic Fibrosis — https://clinicaltrials.gov/study/NCT07508904
- **NCT07437105** [RECRUITING]: Dose Escalation Study Evaluating the Safety and Pharmacokinetics of VX-272 in Healthy Participants — https://clinicaltrials.gov/study/NCT07437105
- **NCT05422222** [RECRUITING]: Evaluation of VX-121/Tezacaftor/Deutivacaftor in Cystic Fibrosis (CF) Participants 1 Through 11 Years of Age — https://clinicaltrials.gov/study/NCT05422222

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## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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