ESA 1 Clinical Conditions- MGD

Question 1

What is amyloidosis?

Answer 1

Misfolding of proteins leading to an insoluble form of a normally soluble protein. Effects vary depending on the location

Question 2

What is the base mutation and amino acid change in sickle cell anaemia?

Answer 2

A –> T

Glu –> Val

Question 3

What is the pathology of sickle cell anaemia?

Answer 3

Mutation in the code for RBCs causes a hydrophobic area to form in the chain when the RBC is in the T state.
Polymerised haemoglobin causes the cell to change into a sickle shape
The sickle-shaped RBCs are removed by the spleen causing haemolytic anaemia

Question 4

Give signs of a sickle-cell crisis

Answer 4

Jaundice- from excessive bilirubin production from the breakdown of RBCs
Pain
Ischaemia- blockage of microvascular structures

Question 5

How is sickle-cell anaemia inherited?

Answer 5

Autosomal recessive

Question 6

Give 3 things that may precipitate a sickle-cell crisis

Answer 6

Smoking
Obesity
Cold
Infection 
(Anything which reduces O2 availability)

Question 7

How is cystic fibrosis inherited?

Answer 7

Autosomal recessive

Question 8

Which gene is defective in cystic fibrosis?

Answer 8

CFTR

Question 9

Explain the pathophysiology of cystic fibrosis

Answer 9

Defective gene for the CFTR leads to impaired ability to transport Na+/Cl-
Therefore water cannot move out into the mucous layer so the mucous becomes very thick

Question 10

What effects does cystic fibrosis have in the pancreas?

Answer 10

Mucous blocks the pancreatic duct causing:
Pancreatitis
Reduced fat digestion

Question 11

What effects does cystic fibrosis have in the lungs?

Answer 11

Ciliary escalator no longer works
Bacteria cannot be cleared
Increased infections

Question 12

How is cystic fibrosis managed?

Answer 12

No cure so manage symptoms
Prophylactic antibiotics for lung infections
Lipase tablets to help fat digestion
Can recover sperm from testes

Question 13

Why may males with cystic fibrosis suffer from infertility?

Answer 13

Vas deferens do not form

Question 14

What is an alpha thalassaemia?

Answer 14

Decreased or absent alpha chains in haemoglobin. Only beta chains present

Question 15

When will an alpha thalassaemia present?

Answer 15

Before birth

Question 16

What is a beta thalassaemia?

Answer 16

Decreased or absent beta chains in haemoglobin. Only alpha chains present

Question 17

When will a beta thalassaemia present?

Answer 17

After birth

Question 18

How may a thalassaemia present?

Answer 18

Similar symptoms to anaemia as haemoglobin cannot form properly

Question 19

What is the pathophysiology of scurvy?

Answer 19

Vitamin D deficiency
Prolyl hydroxylase cannot convert proline to hydroxyproline
There are reduced H bonds, fewer cross links and a weakened structure of collagen

Question 20

What is the pathophysiology of Down’s syndrome?

Answer 20

Extra 21st chromosome present (trisomy 21)

Question 21

Give 3 features of trisomy 21

Answer 21

Impaired intelligence
Characteristic facial features
Heart defects
Increased prevalence of leukaemia

Question 22

What is Edward’s syndrome?

Answer 22

Extra 18th chromosome

Question 23

Give 3 features of trisomy 18

Answer 23

Rocker bottom feet
Overlapping fingers
Small lower jaw

Question 24

What is Patau’s syndrome?

Answer 24

Extra 13th chromosome

Question 25

What is Turner’s syndrome?

Answer 25

1 X chromosome (Monosomy X)

Question 26

Give 3 features of Turner’s syndrome

Answer 26

Short stature
Heart defects
Learning difficulties
Neck webbing
Infertility

Question 27

What is Klinefelter’s Syndrome?

Answer 27

XXY: Extra X chromosome in males

Question 28

Give 3 features of Klinefelter’s syndrome?

Answer 28

Lack of secondary male sex characteristics
Hypogonadism
Infertility 
No body hair
Gynecomastia