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Fibrosis quística

Cystic Fibrosis Explained

CF is inherited and primarily known for its effects on the lungs, but it also significantly impacts the pancreas by blocking enzyme flow and damaging pancreatic tissue. Many people with CF develop exocrine pancreatic insufficiency, leading to poor digestion, weight loss, and vitamin deficiencies. CF also raises the risk of diabetes and certain liver and intestinal complications.

Síntomas

Pancreas-related symptoms include difficulty gaining weight, oily stools, and vitamin deficiencies, often beginning in childhood or adolescence.

Los síntomas incluyen:
Difficulty gaining weight or growing despite good appetite
Frequent, bulky, oily, or foul-smelling stools
Abdominal pain, gas, or bloating
Vitamin deficiency signs (bone problems, hair/skin changes)
CF-related diabetes in some patients

Cuándo llamar

Call the CF team or office if you notice worsening digestive symptoms, weight loss, changes in stool pattern, or concerns about blood sugar or growth.

Seek emergency care for severe abdominal pain, signs of intestinal blockage, severe breathing difficulty, or sudden worsening of overall condition.

Evaluación y pruebas
Manejo y tratamiento

Diagnosis of CF is usually made with newborn screening, sweat chloride testing, and genetic testing. Pancreas-specific evaluation looks at stool enzyme levels, nutritional status, and blood sugar control.

Confirmation of CF with sweat testing and/or genetic testing
Assessment of pancreatic function (stool elastase, stool fat)
Monitoring of growth, weight, and nutritional markers
Screening for CF-related diabetes and liver disease
Multidisciplinary CF care team involvement

Management is multidisciplinary and includes airway clearance and lung care, enzyme replacement for digestion, high-calorie nutrition, vitamin supplementation, and CF-specific medications. Pancreatic care focuses on maintaining nutrition and managing EPI.

Pancreatic enzyme replacement with all meals and snacks
High-calorie, nutrient-dense diet often with extra fat and protein
Fat-soluble vitamin supplements and monitoring of nutrition
CF-targeted therapies (such as CFTR modulators) where appropriate
Regular follow-up with a specialized CF center
Esta información tiene únicamente fines educativos generales y no constituye un diagnóstico ni un consejo médico personalizado. No sustituye la consulta con su propio profesional sanitario. Siga siempre las recomendaciones específicas que le haya dado su equipo médico. Si presenta síntomas urgentes o que empeoran, póngase en contacto con su profesional sanitario o acuda inmediatamente a urgencias.

De un vistazo

Abdominal painBloating / gasDiarrheaWeight loss / anemia

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