Renal

Question 1

1. What is the mechanism behind Type 1 RTA?
2. What are the clinical consequences of this?
3. 3 main associations of this?

Answer 1

1. no H+ secretion in distal tubule
2. NAGMA, renal stones due to raised urinary calcium, hypokalaemia, urine pH > 5.5
3. autoimmune rheum, hypercalcaemia, hyperthyroidism

Question 2

1. What is the mechanism behind Type 4 RTA?
2. What are the clinical consequences of this?

Answer 2

1. reduced aldosterone action - reduced sodium reabsorption + ammonia + K+ excretion
2. NAGMA, hyperkalaemia

Question 3

1. What is the mechanism behind Type 2 RTA?
2. the main causes of this?

Answer 3

1. reduced HCO3 reabsorption in proximal tubule
2. Faconi’s syndrome

Question 4

5 main causes of Faconi’s syndrome?

Answer 4

1. myeloma
2. amyloidosis
3. cystinosis
4. Wilson’s
5. drugs esp antimicrobials

Question 5

4 main consequences of Faconi’s syndrome?

Answer 5

1. Type 2 RTA
2. osmotic diuresis/hypoglycaemia
3. osteomalacia
4. proteinuria

Question 6

What is the mechanism of Bartter syndrome and what is the mode of inheritance?

Answer 6

defective NKCC2. autosomal recessive

Question 7

What are the 3 main consequences of Bartter syndrome?

Answer 7

metabolic alkalosis, hypokalaemia, hypercalciuria

Question 8

What is the mechanism of Gitelmann syndrome and what is the mode of inheritance?

Answer 8

defective Na/Cl co-transporter. SCL12A3 mutation, recessive

Question 9

What are the 4 main consequences of Gitelmann syndrome?

Answer 9

metabolic alkalosis, hypocalcaemia, hypomagnesaemia, hypocalciuria

Question 10

What is the mechanism of Liddle syndrome and what is the mode of inheritance?

Answer 10

enhanced ENaC activity

Question 11

What are the 3 main consequences of Liddle syndrome?

Answer 11

hyperaldosteronism ie. hypertension/metabolic alkalosis/hypokalaemia