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Final Notes > Paeds: Cystic fibrosis HW > Flashcards

Paeds: Cystic fibrosis HW Flashcards

1
Q

Carrier rate

A

1/25

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2
Q

Birth rates

A

1/2500

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3
Q

Commonest ethnic group

A

Caucasians

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4
Q

Genetics

A
  • Autosomal recessive
  • Gene located on chromosome 7
  • > 800 different gene mutations cause CF - commonest is FR08 blocker.
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5
Q

Gene on Chromosome 7 function

A
  • Codes for protein called cystic fibrosis transmembrane regulator (CFTR) - mutated in CF.
  • CFTR is a cyclic AMP-dependant chloride channel blocker.
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6
Q

Pathophysiology

A
  • 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.
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7
Q

Sweat gland pathophysiology

A

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

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8
Q

Symptoms in infancy

A
  • Meconium ileus
  • Prolonged neonatal
  • Failure to thrive
  • Recurrent chest infections
  • Malabsoprtion and steatorrhoea
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9
Q

Meconium ileus

A

10% in neonatal period

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

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10
Q

Recurrent chest infections

A
  • Viscid mucus in smaller airways predisposes to c.i.

- Leads to damage of bronchi wall, bronchiectasis and abscess formation

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11
Q

Common organisms of chest infections

A

Staph aureus
Haemophilius influenza
Strep pneumoniae
Psuedomonas aeruginosa

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12
Q

Symptoms of chest infections

A

Persistent, loss cough productive of purulent sputum

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13
Q

Signs of chest infections

A

Hyperinflation

Coarse crepitations or expiratory rub ± finger clubbing

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14
Q

Malabsorption and steatorrhoea

A
  • Due to insufficiency of the pancreatic exocrine enzymes (lipase, amylase, proteases)
  • Pass large, pale, offensive, greasy stools throughout day.
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15
Q

Young child symptoms

A

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

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16
Q

Older child, Adolescent and Adult symtpoms

A
  • 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
Q

Distal intestinal obstruction

A

Viscid mucofaeculent material obstructs bowel.

18
Q

Persistent infections to think of

A

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
Q

Male infertility due to

A

Abnormalities in vas deferens

20
Q

Pregnancy and breast feeding :

A

Caution that their breast milk has a high sodium concentration

21
Q

Diagnosis

A

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

22
Q

Sweat test

A
  • 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
Q

CXR

A

Hyperexpansion,
peribronchial shadowing, bronchial wall thickening,
ring shadows

24
Q

Screening newborns infants

A
  • 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
Q

Early identification allows

A
  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
Q

Management

A
  1. Multidisciplinary approach
  2. Respiratory management
  3. Nutritional management
  4. Miscellaneous
  5. Possibilities
27
Q

MDT approach

A 
Paeds
Physio
Dieticians
Nurses
Primary care team
Teachers
Parents
Child
28
Q

Respiratory management physio

A

bd/tds (depending on amount of sputum they produce)

  • Parents taught chest percussion and postural drainage
  • Older patients learn forced expiration techniques
29
Q

Resp management physical exercise encouraged

A

Strengthens chest muscles and avoids reaccumulation of secretions

30
Q

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

A
  • 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
Q

Nutritional Management

A
  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
Q

Omeprazole function

A

helps absorption by increased duodenal pH.

33
Q

High-calorie diet

A
  • To compensate for malabsorption
  • Because energy requirement in CF children is 30-40% above normal
  • Can overnight feed via a gastrostomy
34
Q

Miscellaneous

A
  • Ensure full vaccinations
  • Psychological and emotional support
  • Genetic counselling
35
Q

Possibilities

A
  • Heart-lung transplantations

- Gene therapy currently being assessed.

36
Q

Prognosis

A

Median survival is >30 years

Death from pneumonia or cor pulmonale

37
Q

Complications

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

Final Notes (196 decks)

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