Renal Cystic Disease

Question 1

what adult age range is affected by polycystic kidneys ?

Answer 1

40-60yrs

Question 2

what are the two types of PCK?

Answer 2

PKD1 and 2

Question 3

what mutation is PKD1?

Answer 3

Chr16, polycystin 1

Question 4

what mutation is PKD2?

Answer 4

Chr4, polycystin 2:

Question 5

what structures are affected in PKD1?

Answer 5

cell-cell and cell- matrix membrane receptor

Question 6

what structures are affected in PKD2?

Answer 6

Ca2+ channel that interacts ̄c polycystin 1

Question 7

what is the presentation of polycystic kidney disease? MISSHAPES

Answer 7

Mass: abdo mass and flank pain
􏰀 Infected cyst
􏰀 Stones
􏰀 SBP↑
􏰀 Haematuria or haemorrhage into cyst
􏰀 Aneurysms: berry → SAH
􏰀 Polyuria + nocturia
􏰀 Extra-renal cysts: liver
􏰀 Systolic murmur: mitral valve prolapse

Question 8

what medication is used to treat HTN in PKA?

Answer 8

ACEI

Question 9

what general measures can be taken for PKD?

Answer 9

↑ water intake, ↓ Na, ↓ caffeine (may ↓ cyst formation) 􏰁 Monitor U+E and BP
􏰁 Genetic counselling
􏰁 MRA (MRI and angiography) screen for Berry aneurysms

Question 10

what is the inheritance of PKD?

Answer 10

AD

Question 11

what gender is medullary sponge kidney more common?

Answer 11

females

Question 12

is renal function normal with medullary sponge kidney ?

Answer 12

yes

Question 13

is renal function normal with PKD?

Answer 13

no

- 70% ESRF at 70yrs

Question 14

what are some DD for renal enlargement?

Answer 14

Polycystic kidneys: ADPKD, ARPKD, TS

􏰀 Hypertrophy 2O to contralateral renal agenesis

􏰀 Obstruction (hydronephrosis)

􏰀 Neoplasia: RCC, myeloma, amyloidosis

􏰀 Occlusion (renal vein thrombosis)

􏰀 Systemic: early DM, amyloid

Question 15

what is tuberous sclerosis ?

Answer 15

AD condition ̄c hamartomas in skin, brain, eye, kidney

Question 16

what are three features of the skin in tuberous sclerosis ?

Answer 16

nasolabial adenoma sebaceum, ash-leaf macules, peri-ungual fibromas