Cystic kidney disease

Question 1

Different types of cystic disease

Answer 1

CAAR:
Cystic renal dysplasia
Autosomal dominant polycystic kidney disease (ADPKD)
Autosomal recessive polycystic kidney disease (ARPKD)
cystic diseases of the Renal medulla

Question 2

Cystic diseases of the renal medulla

Answer 2

NAMS:
Nephronophthisis medullary cystic disease
Acquired cystic disease: usually from dialysis
Medullary sponge kidney
Simple cysts

Question 3

What is Autosomal dominant polycystic kidney disease (ADPKD)

Answer 3

Dominantly inherited polycystic disease found in adults

Question 4

Causes of Autosomal dominant polycystic kidney disease (ADPKD)

Answer 4

Mutations in the genes encoding a membrane protein called polycystin results in this condition

Question 5

What genes code of polycystin protein

Answer 5

PKD1 on chromosome 16 (encodes polycystin 1)

PKD2 on chromosome 4 (encodes polycystin 2)

Question 6

Signs and symptoms of Autosomal dominant polycystic kidney disease (ADPKD)

Answer 6

Pain (due to renal cyst haemorrhage)
Hypertension
Haematuria
Palpable bilateral in flank masses
Hepatomegaly

Question 7

Investigations of Autosomal dominant polycystic kidney disease (ADPKD)

Answer 7

Bloods - FBC, U and Es, calcium and phosphate, PTH
Urinalysis and culture
Imaging - ultrasound scan is diagnostic
Genetic - screening and monitoring of blood pressure

Question 8

Conservative treatment of Autosomal dominant polycystic kidney disease (ADPKD)

Answer 8

Patient support

Question 9

Medical treatment of Autosomal dominant polycystic kidney disease (ADPKD)

Answer 9

Treat hypertension

Antibiotic therpay for urinary trait infection (UTI)

Question 10

Surgical treatment of Autosomal dominant polycystic kidney disease (ADPKD)

Answer 10

Cyst decompression

Question 11

Complications of Autosomal dominant polycystic kidney disease (ADPKD)

Answer 11

Development of chronic kidney injury
LAMB:
Liver cysts
Aneurysms
Mitral valve prolapse
Berry aneurysm rupture leading to subarachnoid haemorrhage

Question 12

What is Autosomal recessive polycystic kidney disease (ARPKD)

Answer 12

Recessively inherited polycystic disease found in children presenting with varying levels of kidney and liver disease

Question 13

Causes of Autosomal recessive polycystic kidney disease (ARPKD)

Answer 13

PKHD1 on chromosome 6

Question 14

Signs and symptoms of Autosomal recessive polycystic kidney disease (ARPKD)

Answer 14

Hypertension
Those of CKD
Chronic respiratory infections
Those of portal hypertension: ascites, caput medusae and oesophageal varices
Failure to thrive
Recurrent UTI
Polyuria

Question 15

Investigations of Autosomal recessive polycystic kidney disease (ARPKD)

Answer 15

Antenatal screening is diagnostic
Bloods - FBC, U and Es, LFTs
Urinalysis and culture
Imaging - ultrasound/CT/MRI scan

Question 16

What would you see on ultrasound of Autosomal recessive polycystic kidney disease (ARPKD)

Answer 16

Enlarged kidney with or without oligohydramnios

Question 17

Conservative treatment of Autosomal recessive polycystic kidney disease (ARPKD)

Answer 17

Parental and patient support

Question 18

Medical treatment of Autosomal recessive polycystic kidney disease (ARPKD)

Answer 18

Ventilation and long-term oxygen therapy
Treat hypertension (angiotensin converting enzyme inhibitors)
Antibiotics for UTI
Diuretics for fluid overload

Question 19

Surgical treatment of Autosomal recessive polycystic kidney disease (ARPKD)

Answer 19

Nephrectomy

Combined renal and liver transplant

Question 20

Complications of Autosomal recessive polycystic kidney disease (ARPKD)

Answer 20

Hepatic cysts
Congenital hepatic fibrosis
Proliferative bile ducts