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What I Wish Everyone Knew About Cystic Fibrosis.
What is cystic fibrosis???
🔘 It is an autosomal recessive disorder, Most common lethal genetic disease in Caucasian population.
🔷 Why this happen???
Because there is mutation in CFTR ( Cystic Fibrosis Transmembrane Conductance Regulator) Gene on Chromosome 7, deletion of phenylalanine at position 508. As a result, impairment of post translation processing & formation of misfolded protein.
As a result retained in endoplasmic reticulum instead of releasing into cell membrane.
In this situation Cell's can’t transport Cl- ions.
Cell try to do,
Compensatory sodium reabsorption
⬇️
Negative transepithelial potential difference
⬇️
Can be measured intranasally
⬇️
Can be diagnosis through this.
🔰 Signs & Symptoms
🔸Meconium ileus
Meconium so thick, sticky ➡️ stuck in intestines, can cause small bowel obstruction
🔹 On examination we will find,
▪️Distended & rigid abdomen
▪️Mottled & lethargic
▪️Bilious vomiting,
▪️Temperature instability
▪️Tachycardia
▪️Tachypnea
▪️Hypotension
⚠️Without proper management will likely die of Cardiorespiratory complications like pneumonia, bronchiectasis
All this happen in a newborn.
🔰 In early childhood,
✅Pancreatic insufficiency ( Thick secretion block pancreatic ducts)
✅Steatorrhoea
✅Poor weight gain, failure to thrive( nutrients & fat soluble vitamins A,D,E,K lost through stool)
🔰In adulthood,
♂️Biological males,
*️⃣Bilateral absence of Vas Deferens as a result Infertile, not sterile ( spermatogenesis unaffected)
♀️Biological Females,
*️⃣Subfertility
*️⃣Poor nutrition+malabsorption = Irregular ovulation, Amenorrhea
🔵How to diagnose this???
▪️Screening at birth,
▪️Heel prick test that detects Immunoreactive Trypsinogen
🟢Confirmatory test
▪️Quantitative pilocarpine iontophoresis ➡️ Pilocarpine - Induced sweat test.
▪️DNA testing in all age group, most common CF-related mutations
▪️Nasal potential difference test ↔️ specially when sweat test negative
🔵Further testing necessary to diagnose complications
▪️Meconium Ileus : Clinical + X-ray findings
▪️Pulmonary function test
▪️Chest X-ray
▪️Sputum culture : Identify pathogen
▪️Blood test: can show hypokalemia, contraction alkalosis.
🟠 How to treat????
💠 By clearing out mucus
🔰We can prescribe
✔️Anti inflammatory
✔️Antibiotics
✔️Mucolytics
✔️Bronchodilators
✔️Supplemental oxygen in chronic hypoxemia
✔️CFTR modulators
Umme Hani
Mugda Medical College
2016-2017