Chapter 16-20

Question 1

Acquired hypothyroidism

Answer 1

Excess weight gain with normal heigh velocity
Poor school performance, poor focus

Autoimmune
Usually high TSH, Low T3/4

Question 2

Congenital Hypothyroidsim

Answer 2

Small stature +/- obesity
Delayed development
Thyroid dysgenesis (80%)
Septo-optic dysplasia (rare)

Question 3

Leptin deficiency

Answer 3

Massive early obesity
Height normal

7q32

Appetite +
Low gonadotrophins
Low TSH
Late puberty, reduced adult height

Low CD4/T cell count

Question 4

Prader Willi

Answer 4

Initial low weight/ faltering
Obesity from 6 months

Paternal deletion 15q11-13
Learning disability mild-mod

Nasal voice
Almond eyes
Obsessive eating

Question 5

Carpenter syndrome

Answer 5

Obesity
RAB23 defect

Cardiac defects 50%
Acrocephaly
Polydactyly
high arched palate

Question 6

Albright Hereditary Osteodystrophy

Answer 6

Small stature
Moderate obesity
GNAS1 gene
low IQ (60)

High phosphate
Round face,
Short 4th + 5th fingers/ toes

Question 7

Duodenum + Jejunum functions

Answer 7

Promote digestion of carbohydrates, fats and proteins by stimulating pancreatic enzymes, bile acids and brush border enzymes

Question 8

Digested carbohydrates

Answer 8

Galactose
Glucose

Question 9

Glucose sodium transporter 1

Answer 9

apical surface of enterocyte

Galactose, glucose, amino acids absorbed via Active transport with sodium

Question 10

Fructose absorption

Answer 10

Facilitated diffusion, moves down concentration gradient

Question 11

Majority of water absorption

Answer 11

Jejunum

Question 12

Short Gut syndrome

Answer 12

Lack/ dysfunction of digestive enzymes

Reduced surface area

Lack of Diffuse Neuro-Endocrine Hormones, which reduce transit time (Produced in Ileum)

Question 13

Short Gut syndrome diarrhoea

Answer 13

Osmotic

Question 14

Bile acids and B12 reabsorbed (where?)

Answer 14

Ileum

Question 15

Secretory Diarrhoea

Answer 15

Bowel mucosa produces excessive fluid. Water travels IN to lumen.

Chloride production triggered e.g. by excess bile acids or toxin, and water secreted into lumen.

Question 16

Mixed osmotic and secretory diarrhoea

Answer 16

Bacterial overgrowth

Distended Abdo, foul stolls, B12 and ADEK vitamin def.

Question 17

B12 released from proteins by…

Answer 17

Pepsin
in stomach

Question 18

Intrinsic Factor

Answer 18

Parietal cells
Binds to B12 in duodenum and absorbed in complex at terminal ileum

Question 19

B12 Deficiency

Answer 19

Macrocytic anaemia

Demyelinating neuropathy
Hypotonia
Myoclonus
Regression of development

Question 20

Bile salt depletion causes

Answer 20

Fat and fat soluble vitamin malabsorption from inadequate micelle formation.

Steatorrhoea
Renal oxalate stones
Gall stones

Question 21

Vitamin A deficiency

Answer 21

Night blindness, dry eyes
Keratinisation of the cornea
Growth failure
Immune dysfunction

Question 22

Vitamin D deficiency

Answer 22

Rickets
Tetany
Muscle weakness
Bone pain
Skeletal deformities e.g. craniotabes
Rachitis rosary
Genu varum

Question 23

Vitamin E deficiency

Answer 23

Neuroaxonal degeneration
Progressive neuropathy
Retinopathy

Question 24

Vitamin K deficiency

Answer 24

Deranged coagulation
(Low prothrombin, 2,7,9,10)

Question 25

Osmotic diarrhoea

Answer 25

Mucosa of intestine often damaged. Water soluble molecules are poorly absorbed/ osmosis can't take place. Water retention in intestine. Fasting stops diarrhoea

Question 26

Diarrhoea ceases with cessation of food

Answer 26

Osmotic diarrhoea

Question 27

Motility diarrhoea

Answer 27

reduction in amount of time luminal contents have in contact with bowel

Question 28

Lactose

Answer 28

Disaccharide Glucose + Galactose Absorption requires lactase

Question 29

Mucosal changes in coeliac

Answer 29

Crypt hypertrophy Villous atrophy Intraepithelial lymphocytes

Question 30

Initial intestinal damage in coeliac

Answer 30

From Gliadin fractions of wheat gluten

Question 31

Testing for coeliac

Answer 31

IgA tTG HLA-DQ2/8 total IgA Small bowel biopsy

Question 32

Cholera

Answer 32

Most common cause of secretory diarrhoea Rice-water stools Vibrio cholerae (bacteria) Food and water Type O blood more affected

Question 33

Exudative diarrhoea

Answer 33

Change in membrane permeability Protein, blood, mucous exuded into lumen

Question 34

Giardia and Shigella

Answer 34

Exudative diarrhoea

Question 35

Undigested Lactose

Answer 35

Passes into colon and metabolised by bacteria = fermentation Causes Osmotic diarrhoea

Question 36

Congenital glucose-galactose malabsorption

Answer 36

Autosomal recessive SGLT1 mutation (Sodium glucose transporter) Osmotic diarrhoea Life-threatening dehydration

Question 37

Melanosis Coli

Answer 37

Laxative abuse Senna

Question 38

Toddler's Diarrheoa

Answer 38

Undigested vegetables Variable stools No clinical signs malabsorption Increase fat content to slow motility

Question 39

Haem to Bilirubin (location)

Answer 39

Spleen (Macrophages) Liver (Kupfer cells) Also renal tubular cells Together forms reticuloendothelial system

Question 40

Red blood cell breakdown

Answer 40

In reticulo-endothelial system Haem + Globin molecules

Question 41

Globin breakdown to

Answer 41

Amino acids

Question 42

Haem breakdown to

Answer 42

Oxygenated to release Iron, carbon monoxide and bilirubin

Question 43

Unconjugated bilirubin carried by

Answer 43

Albumin Taken into hepatocytes Transported to smooth ER for conjugation

Question 44

Conjugated bilirubin next steps

Answer 44

Transported into bile ducts. Hydrolyzed to form Urobilinogen Stercobilin (brown in poo)

Question 45

Cholestasis Labs

Answer 45

Conjugated hyperbilirubinaemia >20% of total bilirubin Pale stools with jaundice

Question 46

Cholestasis causes

Answer 46

Hepatocellular injury Obstruction to bile flow Bile transport issue

Question 47

Biliary Atresia

Answer 47

50% of neonatal cholestasis Inflammation and destruction of biliary ducts, replaced by scar tissue. Acholic stools Conjugated hyperbilirubinaemia Hepatobiliary IminoDiacetic Acid Scan (HIDA) Rule out choledochal cysts.