Cystic Fibrosis - Thomas

Question 1

Cystic Fibrosis - Sweat Chloride Test Results

> 6 months of age

Answer 1

Recommendations > 6 months of age:

Normal < 39 mmol/L

Intermediate 40-59 mmol/L

Abnormal > 60 mmol/L

Question 2

Manifestations of Cystic Fibrosis

Lungs

Answer 2

• Bronchiectasis
• Bronchitis
• Bronchiolitis
• Pneumonia
• Atelectasis
• Hemoptysis
• Pneumothorax
• Reactive airway disease
• Cor pulmonale
• Respiratory failure
• Muccoid impaction of the bronchi
• Allergic bronchopulomonary aspergillosis

Question 3

Pathogenesis of Lung Disease in Cystic Fibrosis

Answer 3

Abnormal CFTR gene →

Abnormal CFTR protein →

Abnormal Salt Transport →

Abnormal Mucus →

Impaired Clearance →

Pseudomonas Infection →

Inflammatory Response →

Bronchiectasis

Question 4

CFTR-Related Metabolic Syndrome (CRMS)

Answer 4

infants indentified by:

• hypertypsinogenemia on Newborn Screening
• sweat chloride
• up to 2 CFTR mutations, 1 of which is not clearly recognized as a CF causing mutation

Question 5

Cystic Fibrosis - Sweat Chloride Test

< 6 months of age

Answer 5

Recommendations < 6 months of age:

CF unlikely < 29 mmol/L

Intermediate 30-59 mmol/L

CF likely > 60 mmol/L

Question 6

Manifestations of Cystic Fibrosis

Answer 6

Spleen: hypersplenism

Stomach: GERD

Pancreas: pancreatitis, insulin deficiency, symptomatic hyperglycemia, diabetes

Question 7

Manifestations of Cystic Fibrosis

General

Nose and Sinuses

Bones

Answer 7

General: growth failure, vitamin A, D, E, K deficiency

Nose/Sinuses: nasal polyps, sinusitis

Bones: hypertrophic osteoarthropathy, clubbing, arthritis, osteoporsis

Question 8

Manifestations of Cystic Fibrosis

Heart

Reproductive System

Answer 8

Heart: right ventricular hypertrophy, pulmonary artery dilation

Reproductive: infertility, amenorrhea, delayed puberty

Question 9

Manifestations of Cystic Fibrosis

Intestines

Answer 9

• meconium ileus
• meconium peritonitis
• rectal prolapse
• intussusception
• volvulus
• fibrosis colonopathy (strictures)
• appendicitis
• intestinal atresia
• distal intestinal obstruction syndrome
• inguinal hernia

Question 10

How is Cystic Fibrosis diagnosed?

Answer 10

Newborn screening test: test IRT/DNA or IRT/IRT if positive parents and PCP are notified

at the CF Center: sweat chloride test

Question 11

Manifestations of Cystic Fibrosis

Liver

Gallbladder

Answer 11

Liver: hepatic steatosis, portal hypertension

Gallbladder: biliary cirrhosis, neonatal obstructive jaundice, cholelithiasis

Question 12

Genetics of Cystic Fibrosis

Answer 12

autosomal recessive disease

most common genotype: deltaF508/deltaF508

1000+ mutations; most common - ΔF508

Question 13

Vicious Cycle of Cystic Fibrosis Lung Disease & Treatments for Each Stage

Answer 13

Inflammation: ibuprofen, corticosteroids, leukotriene modifiers

Infection: tobramycin, azithromycin

Obstruction: airway clearance, dornase alfa, hypertonic saline, bronchodilators (albuterol; xopenex), chest percussion

Question 14

Common Infections Affecting CF Patients

Answer 14

Viral: RSV

Bacterial: Pseudomonas aeruginosa, Stenotrophomonas maltophilia, Achromobacter xylosoxidans, Brukholderia cepacia, Staphylococcus aureus

Mycobacterial: M chelonae/abscessus, m avium intraceullare

Fungal: Aspergillus fumigatus

Question 15

Cystic Fibrosis Routine Screenings

Answer 15

Newborn Period - checkups every 4-6 weeks + normal PCP visits

After 1st year of life -

Every 3 months

• Pulmonary Function Tests
• Sputum Culture
• Social Worker and Dietition as needed

Annually -

• CBC, CRP, Chem 14, Vitamin Levels, IgE
• Chest X-Ray
• Evaluation by Social Work and Dietitian

Question 16

CFTR-Related Metabolic Syndrome (CRMS) - Concerning Symtpoms

Answer 16

lack of weight gain or unresolved acute weight loss

persistent loose stools and excessive flatus

abdominal pain

coughing or wheezing - contact CF specialist if longer than 2 weeks