What does the Punjabi word kato mean

Heads of state | Pedi | Cystic fibrosis

Cystic fibrosis


・ Epidemiology (2)

- Frequency: white population> black population


→ Most common hereditary metabolic disease in the white population

Cystic fibrosis


・ Etiology (2)

- Autosomal recessive defect of the CFTR (Cystic fibrosis transmembrane conductance regulator) gene (most common mutation DeltaF508) on the long arm of chromosome 7


- Every 20th to 25th person in Germany carries the defective CFTR gene!

Cystic fibrosis


・ Pathophysiology organ damage (9)

- Defect of the CFTR gene


→ Disturbed function of the membrane-bound chloride channel


→ Cl- can no longer be transported from the intra- to the extracellular side


→ Na + enters the cell according to the gradient


→ Water osmotically follows Na +


→ ↑ Secretory viscosity of excretory cells


→ Mucus adhesion


→ Chronic inflammation


→ Organ damage


Cystic fibrosis


・ Pathophysiology sweat test (4)

- If the chloride channel is defective, the Cl- can no longer follow the Na + into the cell


→ The intracellular potential becomes positive and that too


→ Na + can no longer get into the cell either


→ Sodium and chloride increasingly remain in the lumen and are excreted

Cystic fibrosis


・ Clinic (5)

- failure to thrive


- Delayed puberty development


- Typical abdominal complaints


- Typical pulmonary complaints


- Highly salty sweat (loss of electrolytes) with almost normal amounts of sweat


- Impaired fertility (♂: abolished / ♀: reduced)

Cystic fibrosis


・ Typical abdominal complaints (4)


- Early sign: Delayed meconium discharge or lack of meconium discharge


(exocrine pancreatic insufficiency)


- In the course of the disease, massive, foul-smelling stools


→ distended abdomen


→ Possibly rectal prolapse


- Cholecystolithiasis, cholestasis


- Fatty liver (sonographically increased echogenicity) up to biliary cirrhosis

Cystic fibrosis


・ Typical pulmonary complaints (7)

- Chronic productive cough


- Recurrent infections with characteristic pathogens


→ first Haemophilus influenzae and Staphylococcus aureus


→ later gram-negative problem germs such as Pseudomonas aeruginosa or Burkholderia cepacia


- hemoptysis


- bronchiectasis


- Chronic sinusitis and possibly nasal polyposis

Cystic fibrosis


・ Diagnostics (5)

- Prenatal examination


- Physical examination


- laboratory


- Pilocarpine iontophoresis (sweat test)


- Criteria for making the diagnosis (according to the S2 consensus guideline: "Diagnosis of cystic fibrosis")

Cystic fibrosis


・ Prenatal Exam (1)

- Investigation of chorionic villi samples

Cystic fibrosis


・ Physical Exam (3)

- Expiratory wheezing (obstruction)


- wet rattling noises (indication of pneumonia)


- In the case of chronic respiratory insufficiency: watch glass nails and drumstick fingers caused by chronic hypoxia

Cystic fibrosis


・ Laboratory (3)

- Increase in immunoreactive trypsin in the serum


- Hypochloremic alkalosis possible (due to salt loss)


- Reduction of the chymotrypsin or pancreatic elastase content in the stool

Cystic fibrosis


・ Pilocarpine iontophoresis (sweat test) (4)

- Performed three times


- Values ​​of sodium or chloride> 60 meq / l are considered pathological


- In the first six weeks of life, healthy newborns / infants show increased values


→ first values> 90 meq / l pathological (and proving for cystic fibrosis)

Cystic fibrosis


・ Criteria for making a diagnosis (according to the S2 consensus guideline: "Diagnosis of cystic fibrosis") (7)

- At least one of the following diagnostic indications and a CFTR dysfunction have been demonstrated



- Diagnostic advice


→ Positive newborn screening


→ Siblings with a diagnosis of cystic fibrosis


→ At least one clinical indication of cystic fibrosis



- Evidence of CFTR dysfunction


→ Pathological sweat test in at least two independent measurements


→ Detection of two CFTR mutations causing cystic fibrosis (in trans) or


→ Evidence of a characteristic abnormality in CFTR function

Cystic fibrosis


・ Therapy (2)

- Symptomatic treatment


- Therapy for respiratory infections

Cystic fibrosis


・ Symptomatic treatment (4)

- Secretolysis and mucolysis (inhalation of saline solution, breathing exercises, tapping massage)


- High-energy nutrition (including enough table salt) with increased energy requirements


- Administration of pancreatic enzymes


- Oral supply of the fat-soluble vitamins A, D, K and E

Cystic fibrosis


・ Therapy for respiratory infections (2)

- Agent of choice: tobramycin inhalation


→ Altnv .: Ciprofloxacin p.o. + Inhalative colistin



- If therapy is refractory or if inhalation is not possible: intravenous antibiotic therapy effective against Pseudomonas (e.g. with tobramycin, ceftazidime or meropenem i.v.)

Cystic fibrosis


・ Complications (5)

- Meconium ileus


- ABPA (allergic bronchopulmonary aspergillosis; approx. 10% of patients in the course of life)


- emphysema of the lungs


- Pancreopriver diabetes mellitus and its consequences


- Biliary cirrhosis with portal hypertension

Meconium ileus


・ Definition (2)

- No stool in the newborn (physiological meconium loss after 24-48 hours)


- The most common cause is cystic fibrosis (> 90%)

- Picture of the deep ileus of the small intestine (bilious vomiting, distended abdomen, no stool or meconium discharge)

Meconium ileus


・ Diagnostics (5) (picture)

- X-ray abdomen hanging (with contrasting of the bowel)


→ Bloated small intestine


→ microcolon


→ "Soap-bubbles" (Neuhauser symbol)


→ Meconium ileus often does not show any mirrors due to the sticky nature of the stool

Meconium ileus


・ Therapy (2)

- Contrast agent enema (has an osmotic effect, thereby dissolving the meconium)


- Surgery is indicated for perforation or volvulus (axis rotation of an organ)

Cystic fibrosis


・ Forecast (3)

- Depending on the medical and psychological support, significant improvement in recent years


- In principle, female patients can carry a pregnancy to term


- Average life expectancy approx. 35 years


The extent of pulmonary involvement is the limiting criterion for life expectancy