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Failure to Thrive
due to CMV Pneumonia
and Chronic Diarrhea
Immunodeficiency
Inborn Error of Metabolism
Differential Congenital diarrhea
Diagnosis Congenital Lung Malformation
(On basis of History) Chronic Granulomatous Disease
Cystic Fibrosis
HB: 12.3 g/dl
WBC: 8.7 , N=45%, L=50% E=2%, M=3%
HCT: 34.0
Work Up Platelets: 419
CRP: 11
Electrolytes: Na=123, K=2.16, cl=77.7
LFTs= Bil=0.32, ALT=42, alk.Phos=245
RFT: Urea=18, creatinine=0.3
Uric Acid= 7.0 mg/dl
Cystic Fibrosis
Autosomal Recessive
Mutation of CFTR Gene located on Chromosome 7
Effects 1 in 2500 babies in Caucasian descent
Literature Current Median predicted survival age of Patients is
Review 38.3
Newborn Screening is introduced in developed
countries
Reference: Davies JC, Alton EW, Bush A. Cystic fibrosis. BMJ 2007;335:1255–9.
10.1136/bmj.39391.713229.AD
Point mutation in the “Cystic Fibrosis Transmembrane
Conductance Regulator” (CFTR) protein.
Most common mutation is ΔF508-CFTR, occurs in
Literature >90% U.S. patients and 66% of all CF worldwide.
Review Chloride ion channels are used in creating digestive
juices, mucus, and sweat.
Mutated CFTR proteins don’t allow chloride, iodine, or
thiocyanate to cross the cell membrane.
Literature Defective Cl- channels: Effects secretions in multiple
Review organ systems
Persistent
Respiratory Obstruction of Cough and
Thick Mucus
Manifestation Airways Recurrent
Infections
Insufficient
Pancreatic Exocrine
CF related
Malabsorption
Manifestation Function Diabetes
Reduced Bone Mineral Content
Hypertrophic Osteoarthropathy
Other
Manifestations
Neonates presents with Meconium Ileus and
demonstrate poor Weight gain
Antibiotics to treat respiratory infection
NSAIDs to treat fever
Short Term
Mucus-thinning drugs Hypertonic Saline
Treatment Nebulization
Options Bronchodilators to treat cough, SOB
Oral pancreatic enzymes to aid digestion
Chest Physiotherapy
Patient and Family Education
High-calorie, high-fiber, high-salt diet
Long Term Fat-soluble vitamins
Options Drink lots of fluids
Ensure up-to-date immunizations
Hand washing
Exercise
Latest Drugs
Ivacaftor (2012)
New in Cystic Lumacaftor (2015)
Fibrosis Tezacaftor (2018)
Improves production, intracellular processing, and
function of the defective CFTR protein
Patient got better after starting on CREON (pancreatic
enzymes)
Loose stools improved
Discharge Oxygen was gradually weened down overstay
Patient was discharged on CREON and Fat Soluble
Vitamins.
Patient is stable now with regular followups
Nelson Textbook of Pediatrics, 21st Edition
References PG Textbook of Pediatrics, 2nd Edition
Used UPTODATE.com
British Medical Journal
Thanks