METABOLIC DISORDERS

Question 1

A 45 year old woman with Addison’s disease has a three month history of weight loss, muscle weakness, dehydration, occasional dizziness, and lethargy. She has a BP of 100/70 mmHg lying and 75/50 mmHg standing. Blood test results: Sodium 125 mmol/L (133–146) Potassium 6.1 mmol/L (3.5–5.3) Urea 8.5 mmol/L (2.5–7.8) Creatinine 100 µmol/L (60–120) Which additional feature would you expect to see in this patient?

Answer 1

Hyperpigmentation due to ACTH-mediated melanocyte stimulation

Question 2

what is wrong with cushings syndrome

Answer 2

excess cortisol! (cushion is puffy and big) Moon-shaped face Purple striae

Question 3

Accumulation of which substance would cause a patient’s breath to smell like pear-drops?

Answer 3

Non enzymatic decarboxylation of Acetoacetate (a Ketone body) forms acetone which smells like pear-drops. A pear-drop like smell on the breath of a patient indicates ketone body formation with a subsequent risk of ketoacidosis.

Question 4

A patient has Cushing’s syndrome caused by excess cortisol production from an adrenal tumor. What effect would this condition have on plasma ACTH level?

Answer 4

ACTH would DECREASE Excess cortisol from the adrenal tumor would inhibit ACTH secretion by negative feedback.

Question 5

Which time of day would be best to take a blood sample for cortisol measurement if Cushing’s syndrome is suspected?

Answer 5

MIDNIGHT Blood cortisol levels are normally at their lowest around midnight so a high cortisol in a blood sample taken at midnight would be more indicative of Cushing’s than a high value in a 9:00 am sample (when cortisol is normally at its highest level)

Question 6

A 20 year old African male presents to his GP feeling generally unwell and complaining of dark urine. He is found to be jaundiced and his blood tests reveal a low haemoglobin content with features of haemolysis. He has a history of glucose-6-phosphate dehydrogenase deficiency. Which of the following would be most likely to precipitate haemolysis in a patient with glucose-6-phosphate dehydrogenase deficiency?

Answer 6

anti malarials such as primaquine oxidise glutathione and precipitate haemolysis. In patients with glucose 6-phosphate dehydrogenase deficiency the level of NADPH is limited resulting in less protection against oxidative stress due to a lower capacity to recycle oxidised glutathione. Primaquine further depletes the levels of reduced GSH leaving cells very susceptible to oxidative damage.

Question 7

A 35 year old man with Cushing’s syndrome has gained 15 kg in weight during the last 10 months. He has central obesity, a moon shaped face and multiple purple striae on his abdomen. Which hormone would you expect to be above the normal reference range in a blood sample from this patient?

Answer 7

Cortisol

Question 8

What is goitre

Answer 8

.

Question 9

What is Cretinism?

Answer 9

.

Question 10

What is myxedema?

Answer 10

.

Question 11

What is Hashimoto’s disease?

Answer 11

.

Question 12

What is graves disease?

Answer 12

.

Question 13

What is heridary spherocytosis?

Answer 13

.

Question 14

Explain the consequences if you have G6PDH deficiency & how it can lead to Hemolytic Amemia

Answer 14

Question 15

they call this finding “bronze diabetes”

name and describe the disease

Answer 15

heriditery hemochromatosis

excessove iron the body that accumalates and causes damage in parenchymal cells.

liver, pancreas, myocardium, skin

Question 16

in iron deficiency Anmeia, u may get these symtoms, describe the term for each pic

Answer 16

Angular chelitis

Naol> spoon shaped and brittle (choilonychia)

Tongue> papillae