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