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BIOM30002 - M2M > Lecture 11 - CF - Multisystem disorder > Flashcards

Lecture 11 - CF - Multisystem disorder Flashcards

1
Q

What are some other systems that are affected in CF?

A 
• Pancreas
 • GIT
 • Sweat glands
 • Reproductive
etc.
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2
Q

What is the life expectancy for individuals with CF?

A

Late 30’s, early 40’s

NB Life expectancy has been increasing over the years

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3
Q

What is the gold standard test for diagnosing CF?

A

Sweat test
• stimulation of sweat gland with pilocarpine
• sweat collected in coil
• sweat analysed in the lab

→ Sweat chloride level should be lower than 40

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4
Q

Describe the structure and function of the sweat gland

A

Secretory coil
• isotonic (cf plasma) secretion of ions (Na+, Cl-) into nascent sweat

Reabsorption duct:
• ions (Na+, Cl-) reabsorbed
• sweat now hypotonic

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5
Q

What happens in the sweat ducts of individuals with CF?

A

Mutation in CFTR → reduced reabsorption of Na+ and Cl-
Thus, sweat is salty

  • Normally in the sweat gland, CFTR stimulates ENaC.
  • With CFTR mutation → reduced ENaC activity
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6
Q

What are clinical features of high salt sweat?

A
  • hyponatremic / hypochloremic dehydration
  • Pseudo-Bartter’s syndrome
  • headache, irritability
  • muscle cramps
  • nausea
  • fatigue
  • poor concentration
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7
Q

Describe the endocrine and exocrine function of the pancreas

A

Endocrine:
• insulin and glucagon production
( • Islets of Langerhans)

Exocrine:
 • protease
 • lipase
 • amylase
( • pancreatic acini)
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7
Q

What are the fat soluble vitamins?

A

A, D, E, K

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9
Q

What pancreas dysfunction is seen in CF?

What are the sequelae of this?

A

Pancreatic enzyme insufficiency in 85%
• steatorrhoea
• fat malabsorption
• malnutrition (vitamins)

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10
Q

What is the treatment for pancreatic insufficiency?

A

PERT; e.g. Creon
• lipase
• amylase
• protease

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11
Q

Describe the pathophysiology of pancreatic disease

A

CFTR on apical membrane of pancreatic duct all epithelial cell

• luminal liquid composition normally regulated by CFTR
• decreased Cl- transport into luminal liquid
→ increased viscosity
→ obstruction of ducts → fibrosis

• Decreased bicarbonate secretion
→ acidic pH of luminal fluid

• premature activation of proenzymes
→ inflammation and destruction of pancreas

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11
Q

Why is CFRDM important?

A

Associated with higher mortality (6 fold)

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12
Q

What is an important complication of CF pancreas pathology?

Describe the features of this disease

A 
CF related diabetes mellitus (CFRDM)
 • rare in young patients
( • insulin resistance)
 • impaired and delayed insulin secretion
 • microvascular complications
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13
Q

Is liver disease common in CF?

A

25% of CF patients

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15
Q

Describe the pathogenesis of liver pathology in CF

A

CFTR found on epithelial cells lining intra-hepatic bile ducts

  • increased viscosity of bile
  • plugging of intra-hepatic bile ducts
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16
Q

What are clinical features of liver disease in CF?

A
  • prolonged neonatal jaundice
  • cirrhosis and portal hypertension
  • hepato-splenomegaly
  • raised concentrations of liver enzymes
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17
Q

What are the effects of CF on the GIT?

List some complications

A

CFTR abundant in the epithelial cells in GIT
• decreased Cl- secretion from epithelial cells
→ dehydration of luminal contents

  • constipation
  • gastro-oesophageal reflux
  • meconium ileus
  • DIOS (Distal intestinal obstruction syndrome)
18
Q

Describe the features of meconium ileus

A

10-15% incidence in CF neonates

  • bowel obstruction due to inspissated (thickened, congealed) intraluminal meconium
  • associated with pancreatic insufficiency & DIOS
19
Q

Describe the features of DIOS

A
  • abdominal pain, RIF (similar to appendicitis)
  • palpable mass in RIF (right intestinal fossa)
  • partial or complete bowel obstruction
  • intussusception (one portion of the bowel slips into the next)
  • dilated small bowel
  • constipation
20
Q

Describe the features of gastro-oesophageal reflux

What is the cause?

A
  • very common in CF
  • exacerbates declining lung function

Cause: multi factorial, but
• due to delayed gastric emptying

21
Q

What are some more GI complications?

A
  • Rectal prolapse (due to decreased muscle tone & coughing)
  • Coeliac disease
  • Fibrosing colonopathy
  • Malignancy
22
Q

What are the complications of CF on the bones?

A

Osteoporosis (low bone mineral density)
• Bone density is related to going through puberty at the normal time, which is disrupted in people w/ CF
• Pubertal hormones have an important role in bone density

23
Q

What are the genito-urinary complications?

A
  • Pubertal delay (due to decreased body fat mass)
  • Male infertility, in utero obstruction of vas deferens
  • reduced female fertility (increased viscosity of cervical mucous)
  • urinary incontinence (due to increased coughing)
24
Q

What are renal complications?

A
  • CFTR present in renal tubules
  • no clinical effects
  • increased renal clearance of antibiotics
25
Q

What are the complications on ENT?

A

(Ear, nose & throat)

  • nasal polyps
  • reduced smell (–> reduced appetite, nutritional effects)
  • sinus involvement
  • ototoxic drugs used for treatment
26
Q

Complications of the heart

A 
Cor pulmonale
 • pulmonary heart disease
 • high blood pressure in the lungs
 → increased vascular resistance in right ventricle
 → failure of right ventricle
27
Q

What are the complications seen in the skin?

A
  • rashes

* vasculitis

28
Q

What is Pseudo-Bartter’s syndrome?

A

Hypokalemic metabolic alkalosis, secondary to chronic salt loss

29
Q

In which classes of CFTR mutation is pancreatic insufficiency most often seen?

A

Class I, II, III or VI

30
Q 
Describe the normal direction of ion flow in:
 • lungs
 • sweat glands
 • pancreas
 • liver
 • GIT
A

Lungs: out of epithelial cells

Sweat glands: into cells

Pancreas: out of cells

Liver: out of cells

GIT: out of cells

31
Q

What is the name of the condition, in which one portion of the bowel slips into the next?

A

Intussusception

32
Q

What is RIF?

A

Right intestinal fossa

33
Q

What controls the onset of puberty?

A

Once a certain body fat mass is reached, puberty is triggered (more or less…)

34
Q

Which rash is often seen as a complication of CF?

A

Acrodermatitis enteropathica

35
Q

What part of CFTR controls ENaC function?

A

TRL portion on C-terminus

36
Q

Describe general pathogenesis in the various organs

A 
Thick mucous
Damage
Inflammation
Fibrosis
 → non functional
37
Q

What causes microvascular complications?

A

Fibrosis of the vessels

Narrowing of the vessels

38
Q

What are oesophageal varices?

A
  1. Narrowed vessels in liver
  2. Blood flows backwards to find a better route back to the heart
  3. Blood moves through oesophageal vein
  4. Bleeding into the oesophagus
39
Q

What causes fibrosing colonopathy?

A

Too many pancreatic tablets

40
Q

What are some important causes of osteoporosis?

A
  • corticosteroid use
  • delayed puberty
  • malnutrition, vitamin deficiency
41
Q

Describe pathology in the vas deferens

A
  1. Blockage of vas deferens due to the thickened mucous
  2. Vas don’t develop
  3. Babies born without vas

BIOM30002 - M2M (36 decks)

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