Renal

Question 1

Medullary Cystic Kidney Disease

1. Aetiology
2. Pathology
3. Presentation
4. Investigations
5. Management
6. Complications

Answer 1

1. AD, MCKD1+2
2. Cysts in medullary interstitium
3. Polyuria
4. Blood low Na, Urine high Na, minimal protein
5. Salt replacement
6. Renal failure 5-10 years, hyperuricemia, gout

Question 2

Juvenile Nephronopthisis

1. Aetiology
2. Pathology
3. Presentation
4. Investigations
5. Management
6. Complications

Answer 2

1. AR, NPHP1
2. Infantile + Juvenile forms. Macrophages in interstitium. Tubules Atrophy. Can’t concentrate urine. Kidneys scarred. Get cysts
3. Polyuria
4. Blood low Na, Urine high Na, minimal protein
5. Salt replacement
6. Renal failure 5-10 years, short, hepatic fibrosis, retinal degeneration, sinus inversus

Question 3

Renal Fanconi Syndrome

2. Pathology
3. Presentation
4. Investigations
5. Management
6. Complications

Answer 3

1. Cisplatin, gentamicin, valproate. Kidney injury. Cystinosis, galactosemia, Wilson’s, Lowe.
2. Defect proximal tubule. Lose AA, Ca, HCO3, Glucose, PO4, Uric Acid
3. UA: Glucose and Protein. Blood: low HCO3, Ca and PO4. Dehydration. Rickets, growth failure. NM symptoms
4. Replace electrolytes and avoid dehydration.