Cystic fibrosis (Q40135): Difference between revisions
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Fibrose cística (FC) é uma doença genética caracterizada pela produção de suor com alto conteúdo de sal e secreções mucosas com viscosidade anormal. A doença é crônica e geralmente progressiva, usualmente com seu início ocorrendo durante a primeira infância ou, ocasionalmente, no nascimento (íleo meconial). Praticamente qualquer órgão interno pode ser afetado, mas as principais manifestações dizem respeito ao sistema respiratório (bronquite crônica), pâncreas (insuficiência pancreática, diabetes da adolescência e, ocasionalmente, pancreatite) e, mais raramente, intestino (obstrução intestinal) e fígado (cirrose). Os sintomas e sinais habituais de apresentação incluem infecção pulmonar persistente, insuficiência pancreática e níveis elevados de cloreto no suor. Muitos paciente, entretanto, mostram sintomas discretos ou atípicos e clínicos devem estar alertas para a possibilidade de FC mesmo quando apenas poucas das manifestações habituais estão presentes. Para o diagnóstico da fibrose cística devem estar presentes ambos os critérios: sintomas compatíveis com FC em pelo menos um sistema orgânico e evidência de disfunção do regulador da condutância transmembrana da fibrose cística (CFTR) | |||
| description / en | description / en | ||
Cystic fibrosis (CF) is a genetic disorder characterised by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. The disease is chronic and generally progressive, with onset usually occurring during early childhood or, occasionally, at birth (meconium ileus). Virtually any internal organ may be involved but the principle manifestations concern the breathing apparatus (chronic bronchitis), pancreas (pancreatic insufficiency, adolescent diabetes and occasionally pancreatitis) and, more rarely, the intestine (stercoral obstruction) or liver (cirrhosis). The usual presenting symptoms and signs include persistent pulmonary infection, pancreatic insufficiency, and elevated sweat chloride levels. However, many patients demonstrate mild or atypical symptoms, and clinicians should remain alert to the possibility of CF even when only a few of the usual features are present. Both criteria; clinical symptoms consistent with CF in at least one organ system and evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction must be met to diagnose cystic fibrosis. | |||
Revision as of 05:49, 13 August 2026
Cystic fibrosis (CF) is a genetic disorder characterised by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. The disease is chronic and generally progressive, with onset usually occurring during early childhood or, occasionally, at birth (meconium ileus). Virtually any internal organ may be involved but the principle manifestations concern the breathing apparatus (chronic bronchitis), pancreas (pancreatic insufficiency, adolescent diabetes and occasionally pancreatitis) and, more rarely, the intestine (stercoral obstruction) or liver (cirrhosis). The usual presenting symptoms and signs include persistent pulmonary infection, pancreatic insufficiency, and elevated sweat chloride levels. However, many patients demonstrate mild or atypical symptoms, and clinicians should remain alert to the possibility of CF even when only a few of the usual features are present. Both criteria; clinical symptoms consistent with CF in at least one organ system and evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction must be met to diagnose cystic fibrosis.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | CA25 |
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| English | Cystic fibrosis |
Cystic fibrosis (CF) is a genetic disorder characterised by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. The disease is chronic and generally progressive, with onset usually occurring during early childhood or, occasionally, at birth (meconium ileus). Virtually any internal organ may be involved but the principle manifestations concern the breathing apparatus (chronic bronchitis), pancreas (pancreatic insufficiency, adolescent diabetes and occasionally pancreatitis) and, more rarely, the intestine (stercoral obstruction) or liver (cirrhosis). The usual presenting symptoms and signs include persistent pulmonary infection, pancreatic insufficiency, and elevated sweat chloride levels. However, many patients demonstrate mild or atypical symptoms, and clinicians should remain alert to the possibility of CF even when only a few of the usual features are present. Both criteria; clinical symptoms consistent with CF in at least one organ system and evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction must be met to diagnose cystic fibrosis. |
