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What I Wish Everyone Knew About Cystic Fibrosis.
What is cystic fibrosis???
๐ It is an autosomal recessive disorder, Most common lethal genetic disease in Caucasian population.
๐ท 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 canโt transport Cl- ions.
Cell try to do,
Compensatory sodium reabsorption
โฌ๏ธ
Negative transepithelial potential difference
โฌ๏ธ
Can be measured intranasally
โฌ๏ธ
Can be diagnosis through this.
๐ฐ Signs & Symptoms
๐ธMeconium ileus
Meconium so thick, sticky โก๏ธ stuck in intestines, can cause small bowel obstruction
๐น On examination we will find,
โช๏ธDistended & rigid abdomen
โช๏ธMottled & lethargic
โช๏ธBilious vomiting,
โช๏ธTemperature instability
โช๏ธTachycardia
โช๏ธTachypnea
โช๏ธHypotension
โ ๏ธWithout proper management will likely die of Cardiorespiratory complications like pneumonia, bronchiectasis
All this happen in a newborn.
๐ฐ In early childhood,
โ
Pancreatic insufficiency ( Thick secretion block pancreatic ducts)
โ
Steatorrhoea
โ
Poor weight gain, failure to thrive( nutrients & fat soluble vitamins A,D,E,K lost through stool)
๐ฐIn adulthood,
โ๏ธBiological males,
*๏ธโฃBilateral absence of Vas Deferens as a result Infertile, not sterile ( spermatogenesis unaffected)
โ๏ธBiological Females,
*๏ธโฃSubfertility
*๏ธโฃPoor nutrition+malabsorption = Irregular ovulation, Amenorrhea
๐ตHow to diagnose this???
โช๏ธScreening at birth,
โช๏ธHeel prick test that detects Immunoreactive Trypsinogen
๐ขConfirmatory test
โช๏ธQuantitative pilocarpine iontophoresis โก๏ธ Pilocarpine - Induced sweat test.
โช๏ธDNA testing in all age group, most common CF-related mutations
โช๏ธNasal potential difference test โ๏ธ specially when sweat test negative
๐ตFurther testing necessary to diagnose complications
โช๏ธMeconium Ileus : Clinical + X-ray findings
โช๏ธPulmonary function test
โช๏ธChest X-ray
โช๏ธSputum culture : Identify pathogen
โช๏ธBlood test: can show hypokalemia, contraction alkalosis.
๐ How to treat????
๐ By clearing out mucus
๐ฐWe can prescribe
โ๏ธAnti inflammatory
โ๏ธAntibiotics
โ๏ธMucolytics
โ๏ธBronchodilators
โ๏ธSupplemental oxygen in chronic hypoxemia
โ๏ธCFTR modulators
Umme Hani
Mugda Medical College
2016-2017
