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Flashcards in Paeds: Cystic fibrosis HW Deck (37):
1

Carrier rate

1/25

2

Birth rates

1/2500

3

Commonest ethnic group

Caucasians

4

Genetics

- Autosomal recessive
- Gene located on chromosome 7
- >800 different gene mutations cause CF - commonest is FR08 blocker.

5

Gene on Chromosome 7 function

- Codes for protein called cystic fibrosis transmembrane regulator (CFTR) - mutated in CF.
- CFTR is a cyclic AMP-dependant chloride channel blocker.

6

Pathophysiology

- Abnormal ion transport across epithelial cells of exocrine glands in respiratory tract and pancreas.
--> Leads to: Reduced Cl- excreted into airway lumen, raised Na absorption, water follows = raised viscosity of secretions.
- Abnormal function of sweat glands
- CFTR also affects inflammatory processes and defence against infections.

7

Sweat gland pathophysiology

= raised conc. of Na and Chloride in sweat (80-125 mmol/L in CF, 10-14 mmol/L normal)

8

Symptoms in infancy

- Meconium ileus
- Prolonged neonatal
- Failure to thrive
- Recurrent chest infections
- Malabsoprtion and steatorrhoea

9

Meconium ileus

10% in neonatal period
- Thickened meconium causes IO with vomiting, abdo distention and failure to pass meconium in first few days of life.

10

Recurrent chest infections

- Viscid mucus in smaller airways predisposes to c.i.
- Leads to damage of bronchi wall, bronchiectasis and abscess formation

11

Common organisms of chest infections

Staph aureus
Haemophilius influenza
Strep pneumoniae
Psuedomonas aeruginosa

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Symptoms of chest infections

Persistent, loss cough productive of purulent sputum

13

Signs of chest infections

Hyperinflation
Coarse crepitations or expiratory rub ± finger clubbing

14

Malabsorption and steatorrhoea

- Due to insufficiency of the pancreatic exocrine enzymes (lipase, amylase, proteases)
- Pass large, pale, offensive, greasy stools throughout day.

15

Young child symptoms

Bronchiectasis (chronic dilation of bronchi)
Rectal prolapse
Nasal polyp
Sinusitis

16

Older child, Adolescent and Adult symtpoms

- DM (either IDDM or NIDDM)
- Cirrhosis and portal hypertension
- Distal intestinal obstruction
- Pneumothorax/ recurrent haemoptysis (cough up blood)
- Persistent Psuedomonas infection
- Aspergillosis
- Male infertility
- Women have reduced fertility
- increased psyhological problems

17

Distal intestinal obstruction

Viscid mucofaeculent material obstructs bowel.

18

Persistent infections to think of

Some also have Burkholderia cepacia which markedly reduces lung function - spread is from person to person to CF patients are advise not to socialise with other CF sufferers.

19

Male infertility due to

Abnormalities in vas deferens

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Pregnancy and breast feeding :

Caution that their breast milk has a high sodium concentration

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Diagnosis

Sweat test
CXR
Also: IRT/DNA, malabsorption screen, glucose tolerance test, lung function tests, sputum culture

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Sweat test

- Stimulated by pulocarpine iontophoresis -collected int a capillary tube or absorbed onto a weighed piece of filter paper.
- Diagnostic error if inadequate volume of sweat - do two tests to confirm results.
- Sweat Chloride >60 mmol/L = CF (

23

CXR

Hyperexpansion,
peribronchial shadowing, bronchial wall thickening,
ring shadows

24

Screening newborns infants

- Immunoreactive trypsin (IRT) is increased in CF patients
- Confirm with a sweat test
- Screening in antenatal carrier-status testing is possible
- Pre-implantation analysis after IVF at 8 cell stag (one cel removed and analysed - only embryos without CF re-implanted.

25

Early identification allows

1. Early nutritional management, introduction of prophylactic antibiotics, prompt recognition and treatment of respiratory infections.
2. Enables genetic counselling for parents as 1/4 risk of recurrence and possibility of prenatal diagnosis in future pregnancies

26

Management

1. Multidisciplinary approach
2. Respiratory management
3. Nutritional management
4. Miscellaneous
5. Possibilities

27

MDT approach

Paeds
Physio
Dieticians
Nurses
Primary care team
Teachers
Parents
Child

28

Respiratory management physio

bd/tds (depending on amount of sputum they produce)
- Parents taught chest percussion and postural drainage
- Older patients learn forced expiration techniques

29

Resp management physical exercise encouraged

Strengthens chest muscles and avoids reaccumulation of secretions

30

Resp management persistent bacterial chest infections are a problem - managed by:

- Continuous oral antibiotics
- IV therapy for acute exacerbation (central venous catheter with s.c. port of access often implanted so can give iv at home)
- Nebulised antibiotics if Pseudomonas
|Some have reversible airway obstruction - give bronchodilators or inhaled steriods.

31

Nutritional Management

1. Treat pancreatic insufficiency: Oral enteric - coated pancreatic supplements (Pancrex V) with all meals and snacks
2. Omeprazole
3. High calorie diet
4. Fat-solunle vitamin supplements (A,D,E,K)

32

Omeprazole function

helps absorption by increased duodenal pH.

33

High-calorie diet

- To compensate for malabsorption
- Because energy requirement in CF children is 30-40% above normal
- Can overnight feed via a gastrostomy

34

Miscellaneous

- Ensure full vaccinations
- Psychological and emotional support
- Genetic counselling

35

Possibilities

- Heart-lung transplantations
- Gene therapy currently being assessed.

36

Prognosis

Median survival is >30 years
Death from pneumonia or cor pulmonale

37

Complications

- Haemoptysis
- Pneumonia
- Pneumothorax
- Pulmonary osteo-arthropathy
- DM
- Cirrhosis
- Chloesterol gallstones
- Cholesterol gallstones
- Fibrosing colonopathy
- Male infertility

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