Genesis Online University

Umme Hani 2 years ago

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
 

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