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Respiratory - CF / Genetic Respiratory Diseases (*Genetic Respiratory…
Respiratory - CF / Genetic Respiratory Diseases
*Genetic Respiratory Diseases
autosomal recessive respiratory diseases
ezyme deficient diseases
*Respiratory genetic Autosomal recessive disorders
cystic fibrosis
Karategner Syndrome
--> imparied dynesin holding microtubules in cilia
--> classic triad of : dextrocardia / situs inversus, recurrent RTIs/sinusitis, bronchiectasis
*Karategner Syndrome
--> imparied dynesin holding microtubules in cilia
--> classic triad of : dextrocardia / situs inversus, recurrent RTIs/sinusitis, bronchiectasis
Clinical Cases
Clinical Case
Notes
:
note that
Clinical Case
*GCD = Chronic Granulomatous Disease
deficient in NADPH oxidase complex
--> can't metabolize NADPH into oxides from the HMP shunt pathway
constant infections from catalase positive organisms mix of bacteria fungi
*Home
*Cystic Fibrosis
Notes
:
note that in CF in both the lungs / GI and the sweat ducts it is the combination of CL- and Na+ collecting that the water follows them and creates the thick mucus in the GI/lungs or the high NaCL in the sweat
Na+ always trying to get into the cell
Cl- going out in the lungs and reabsorbed back in the sweat
in the lungs the lack of salt in the mucus makes the water flow into the cells
thick dry mucus in the lungs
Cystic Fibrosis - Nasal Saline test
nasal transepithelial potential difference test,
recall that the CFTR normally inhibits the ENaC channel to stop Na coming into the cell
in CF this inhibition is gone
--> higher ENaC activity and increase Na absorption into the cell
when saline put into the nasal mucosa
--> Na gets absorbed, but the Cl- ions do not
--> high voltage difference, cells more positive than the Cl- rich saline
Clinical Cases
Cystic Fibrosis example
Notes
:
note that the CFTR works differently with the ENaC for Cl- depending on the tissue
in the sweat glands both the CFTR and ENaC work together to try and reabsorb the salt from the sweat and back into the epithelial tissue
--> reason why CFTR- people will have a positive sweat test = high NaCl in their sweat
in the respiratory system the CFTR and ENaC work in opposite directions and the CFTR inhibits the ENaC
--> Na+ is mainly what the water follows
--> thus less electrolytes in the lung fluid
--> thicker mucus
Cystic Fibrosis example 2
Notes
:
note that the CFTR mutation in cystic fibrosis causes the misfolding of this Cl- channel
it is then brought within the cell to proteosomes to be degraded
Clinical Case
Clinical Case
Notes
:
note that
*CFTR gene and CFTR Cl- Channel
CFTR = CF transmembrane Regulator
*CFTR Cl- Channel
CFTR = CF transmembrane Regulator
ATP regulated --> requires energy to force Cl- out of cell
Notes
:
note just like the sodium potassium pump uses AATP and energy to make a gradient
CFTR pumps also use energy and ATP to keep mucus wet with water so it can work
--> this takes active energy
without the ATP FCTR pumps, mucus is dry and thick
*CFTR gene
CFTR = CF transmembrane Regulator
*Meconium Illeus and CF
only 10-20% of CF infants present with meconium illeus
but meconium illeus is pathognonomic for CF
it is due to CF dehydrating the meconium / first bowels of the infant
--> causes obstruction in the illeum
needs to be distinguished from Hirschprung Disease
--> failure fo the neural crest cells to migrate to the distal colon
--> no peristalsis and get bowel obstruction
CF meconium illeus vs. Hirschprung in Down's Syndrome
note that squirt sign = after DRE there is a SQUIRT of feces out of the rectum
CF *complications and seqelae
excessive salt loss through sweath ducts
--> hyponatremia and hypochloremia
low fat soluble vitamin absorption in gut
--> Vit ADEK deficiencies
CF and low Fat soluble Vitamin Absorption
Vitamins ADEK are fat soluble
Vitamin A = retinoic Acid = Retains the mucus membranes of the pancreas and other areas affected by CF
Vit D = bones
--> Rickets in children and osteomalacia in adults
Vit E = skin, phospho membranes
Vit K = clotting cascade Extrinsic Vit K factor 7
CF Excessive sweat Salt loss
excessive salt loss through sweath ducts
--> hyponatremia and hypochloremia
*Common CF RTI infections
Staph Aureus in children
Speudomonas in adults
*Staph Aureus infections in CF children
most common RTI infecction in CF kids
*Pseudomonas infections in CF adults
most common RTI infecction in CF adults
CF vs *Cilliary Dynesin Kartagener Syndrome
note they are very different underlying causes but with the same clinical presentations
thye both cause infertility in men
--> CF has normal sperm with dysgenesis of the Vas Deferens
--> CD Kartagener has sperm without dynesin microtubule anchor for flagella
