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Clinical Conditions Flashcards

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0
Q

What are the clinical consequences and symptoms of G6PD deficiency? When do symptoms appear?

A

Low NADPH levels, disulphide bridges form between Hb cysteine residues, Heinz bodies form, increased destruction of rbcs leads to anaemia, jaundice and fatigue. Disulphide bridges in eye lens cause cataracts. Symptoms appear at times of oxidative stress, infection etc

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1
Q

What is the cause of G6PD deficiency?

A

X linked genetic condition

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3
Q

What are symptoms of both types of galactosaemia? Which is more severe?

A

Kinase- cataracts caused by low NADPH levels in eye
Transferase- same as kinase but more severe as also damage to liver, kidney and brain due to build up of glucose-1-phosphate
Symptoms present in newborns and must be treated quickly

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4
Q

What is galactitol and explain its significance in galactosaemia?

A

When galactose builds up (e.g. in galactosaemia) it is converted to galactitol, converting NADPH to NADP.

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5
Q

How can deficiency in galactose 1 P uridyl transferase cause jaundice?

A

Leads to build up of glucose 1 phosphate, this damages liver, reducing its ability to conjugate haemoglobin, causing Hb build up = jaundice

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6
Q

What are the two causes of galactosaemia and which is most common?

A

Deficiency of Galactokinase enzyme or deficiency of galactose (1 phosphate uridyl)transferase, transferase is most common.

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7
Q

What is the cause and possible effects of a glycogen storage disease?

A

Genetic cause, deficiency/dysfunction of an enzyme
Excess storage- tissue damage
Diminished storage- hypoglycaemia, low exercise tolerance (Von Gierkes)

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8
Q

What is the cause of phenylketonuria?

A

Deficiency of phenylalanine hydroxylase, can’t metabolise phenylalanine so it accumulates and is converted to phenyl ketones

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9
Q

How, when and why is PKU diagnosed?

A

Heel prick test in newborns, must be detected early as if left untreated brain development is stunted

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10
Q

How is PKU managed?

A

Special diet, low in phenylalanine

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11
Q

What causes homocysteinuria?

A

Deficiency of CBS enzyme, leads to increased level of homocysteine and methionine

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12
Q

What are the effects to the body of homocysteinuria?

A

Damage to connective tissue, muscle, CNS, cardiovascular system

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13
Q

What can homocysteinuria often be mistaken for?

A

Marfan’s syndrome

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14
Q

Describe the cause, symptoms and treatment of marasmus…

A

Cause- general malnutrition, under fed, usually children <5
Symptoms- muscle wasting, loss of body fat, hair dry and thin, may have diarrhoea, anaemia
Treatment- gradually build up diet

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15
Q

Describe the cause, symptoms and treatment for Kwashiorkor…

A

Cause- low protein diet
Symptoms- lethargy, loss of appetite, oedema, hepatomegaly, low serum albumin, often anaemia
Treatment- gradual reintroduction of protein into diet

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17
Q

What is the treatment for galactosaemia?

A

No dairy!!

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18
Q

Describe hyperlipoprotainaemia, it’s causes and symptoms…

A

High levels of one or more classes of lipoprotein
Cause- under removal/over storage/defective enzyme, receptor or apoprotein
Symptoms- xanthelasma, corneal arcus, can lead to atherosclerosis/CHD

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19
Q

Describe the process of atheroma formation…

A

Oxidised LDLs taken up by macrophages, macrophages become foam cells, foam cells accumulate in wall of blood vessel (fatty streak), fatty streak expands and swells = atheroma

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20
Q

What is the treatment of hyperlipoprotainaemia?

A

Diet- lower cholesterol and saturated fat
Lifestyle- more exercise, stop smoking,
Statins- inhibit HMG CoA reductase, lower production of cholesterol by body,

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21
Q

How is paracetamol metabolised during an overdose and why is this harmful?

A

Normal phase II pathway is saturated, goes through phase I, converted to NAPQI, NAPQI conjugated with glutathione, glutathione antioxidant used up leaving liver cells open to to attack by ROS which damages/kills them

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22
Q

What is the treatment for paracetamol overdose and what is the time frame for effectiveness?

A

<8 hours after exposure, give N-acetylcysteine, any longer then damage has already been done so a liver transplant is needed

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23
Q

What is the pathway for alcohol metabolism?

A

Alcohol converted to acetaldehyde by alcohol dehydrogenase, then to acetic acid using aldehyde dehydrogenase. Acetic acid can then be converted to acetyl CoA and enters the Krebs cycle.

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24
Q

What causes the adverse effects of alcohol?

A

The intermediate, acetaldehyde

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25
Q

What are the consequences of prolonged binge drinking?

A

Fatty liver, alcoholic hepatitis, alcoholic cirrhosis

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26
What causes fatty liver in alcoholics?
Excess NADH from the metabolism of alcohol increases fat deposition
27
What can alcoholics be given to stop their addiction and how does it work?
Disulfiram- inhibits aldehyde dehydrogenase so acetaldehyde builds up causing a very very bad hangover, lasting days, hopefully this is bad enough to put them off for good
28
What are the symptoms of hypoglycaemia?
Slurred speech, staggering, confusion, loss of consciousness, eventually death
29
What are the consequences of a leptin deficiency?
Appetite isn't adequately suppressed, keep eating, get very, very fat like ob/ob mouse
30
What are the symptoms of metabolic syndrome?
Insulin resistance, dyslipidaemia, impaired glucose tolerance, type II diabetes, hypertension, obesity
31
What is included in the WHO criteria for metabolic syndrome?
Waist/hip ratio, BMI over 30, high blood pressure, high TAGs, low HDLs, high fasting glucose
32
What is the typical presentation of someone with type I diabetes?
Young, thin, recent viral infection, symptoms- polyuria, polydipsia and weight loss
33
What is the typical presentation of someone with type II diabetes?
Older person, overweight, symptoms- as type I, or lethargy, persistent infections (thrush, feet), visual problems
34
What is the cause of type I diabetes?
Autoimmune destruction of beta cells in pancreas
35
What is the cause of type II diabetes?
Insulin resistance due to a high glucose diet, some gradual loss of beta cells
36
Why must type I diabetes be spotted and treated quickly?
Untreated it leads to ketoacidosis- the body goes into starvation mode without insulin allowing it to take up glucose, ketones are produced, lower blood pH- fatal if untreated
37
How can diabetes be diagnosed? (3 tests)
Fasting glucose >7mmol Glucose tolerance test HbA1c test >6.5%
38
What is the treatment for type I diabetes?
Patient education, regular insulin injections, diet, exercise
39
What is the treatment for type II diabetes?
Diet, exercise, then non insulin drugs e.g. Sulphonylureas, metformin, finally insulin
40
What are the long term side effects of diabetes?
Increased stroke and MI risk, diabetic eye disease, retinopathy, glaucoma, diabetic kidney disease, diabetic neuropathy, diabetic feet
41
What are the causes of Cushing syndrome?
Exogenous- long term steroid use | Endogenous- pituitary tumour, ectopic tumour (ACTH secreting), primary adrenal tumour (cortisol secreting)
42
How could you distinguish between the different endogenous causes of Cushing's?
Adrenal tumour- increased cortisol, but decreased ACTH Pituitary or ectopic- dexamethasone test, low dose, both respond the same, high dose- pituitary suppresses, ectopic doesn't suppress
43
What causes Cushing's disease?
Pituitary tumour
44
What is the treatment for Cushing's disease?
Removal of the pituitary tumour
45
What are the symptoms of Cushing's?
Central obesity, purple striae, reddened and moon shaped face, easy bruising, hyperglycaemia (steroid diabetes)
46
What causes Addison's disease?
Autoimmune destruction of adrenal cortex causing reduced cortisol secretion
47
What are the symptoms of Addison's disease?
Lethargy, muscle weakness, anorexia, weight loss, dehydration, hyperpigmentation, postural hypotension, hypoglycaemia
48
What is another cause of low cortisol levels?
Problem with pituitary gland ACTH secretion
49
How would you diagnose Addison's?
Use a SynACTHen test- synthetic ACTH to stimulate cortisol secretion, if cortisol doesn't rise then have Addison's
50
What is the most common cause of hypothyroidism?
Hashimoto's- autoimmune destruction of follicular cells or antibody produced that blocks TSH receptors
51
What are the symptoms of hypothyroidism?
Weight gain, cold intolerance, bradycardia, constipation, lethargy, weakness, dry and flaky skin, alopecia, depression
52
What is the treatment for hypothyroidism?
Oral thyroxine (T4), start with low dose and gradually increase until symptoms disappear
53
Why are all babies screened for congenital hypothyroidism?
Lack of thyroid hormone in development causes cretinism- stunted growth and mental retardation- but this can be avoided if detected quickly and treated immediately with T4
54
What is the main cause of hyperthyroidism?
Grave's disease- autoimmune condition, antibodies are produced that mimic TSH and activate thyroxine secretion
55
What are the symptoms of hyperthyroidism?
Weight loss, heat intolerance, tachycardia, physical and mental hyperactivity, diarrhoea, lethargy, exophthalmos and lid lag
56
What are the treatment options for hyperthyroidism?
Carbimazole (inhibits coupling and iodination of tyrosine residues) if unsuccessful, radioactive iodine to destroy thyroid or surgery to remove it, then T4 replacement
57
What causes Hypocalcaemia?
Deficiency of vitamin D/calcium or hypoparathyroidism caused by accidental removal of parathyroid, or autoimmune condition
58
What causes hypercalcaemia?
Benign tumour of parathyroid gland (hyperparathyroidism) or PTHrP secreting tumour e.g. Breast, prostate cancer
59
What are the symptoms of Hypocalcaemia?
Tetany, paralysis, convulsions and eventually death if affects respiratory muscles
60
What are the symptoms of hypercalcaemia?
Kidney stones, constipation, lethargy, depression (stones, moans and groans!)
61
Why does gestational diabetes occur?
Mother's pancreas is unable to cope with the increased demand for insulin during pregnancy so control is lost and glucose levels increase, disappears after birth as insulin demand decreases
62
What causes sickle cell anaemia?
Single base substitution- A>T causes glutamate > valine, forms sticky hydrophobic pocket which causes polymerisation of Hb in the t state, causes Sickling
63
How is sickle cell managed?
Patient education, avoid stressors e.g. Infection, cold, intense exercise (causing hypoxia)
64
What are the types of thalassemia and what are they?
Usually 2 alpha, 2 beta subunits in Hb Alpha thalassemia- decreased/absent alpha globins in the individuals blood Beta thalassemia- decreased/absent beta globins
65
Give an example of a disease with an autosomal recessive inheritance pattern...
Cystic fibrosis
66
Give an example of a disease with an autosomal dominant inheritance pattern...
Huntington's
67
Give an example of an X linked recessive condition...
Haemophilia A
68
Name a condition caused by an aneuploidy...
Down syndrome, Turner, Edwards, Triple X, Klinefelter, XXY syndrome
69
What are the causes and symtoms of Down syndrome?
Triploidy of chromosome 21, can be due to carrier parent (robertsonian translocation) or non disjunction at meiosis (I or II), Symptoms- intellectual disability, hypothyroidism, heart disease, constipation, eye and hearing problems
70
What causes Marfan's syndrome and what are its symptoms?
Cause- genetic, mutation in fibrillin gene causing problems with elastin Symptoms- arachnodactyly, abnormally tall, heart problems, lens dislocation
71
What causes and what are the symptoms of Ehlers-Danlos syndrome?
Cause- genetic mutation affecting collagen (several different forms of the disease, affect different types of collagen) Symptoms- stretchy skin, loose and flexible joints,

Megan (6 decks)

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