Congenital disease of the kidney

Question 1

Describe Alport’s syndrome?

Answer 1

• X chromosome mutation, which encodes type IV collagen
  
  • X-linked recessive inheritance
• Abnormal collagen accumulation causes degeneration of the GBM

Question 2

Features of Alport’s syndrome?

Answer 2

• Haematuria
• Ocular abnormalities
• Sensorineural deafness

Question 3

Describe the management of Alport’s syndrome?

Answer 3

• ACEi
  
  • Slow loss of kidney function
• Renal replacement therapy
  
  • Can develop immune response to normal collagen in GBM of donor kidney
  • May develop anti-GBM disease which destroys the allograft

Question 4

Describe Hereditary nephrotic syndrome?

Answer 4

• Early onset nephrotic syndrome, usually FSGS pattern
• Autosomal dominant or recessive
• Mutations of genes coding podocyte proteins

Question 5

Describe Juvenile hyperuricaemic nephropathy?

Answer 5

• Autosomal dominant
• REN gene (renin)
• Gout, hyperkalaemia, salt-losing nephropathy

Question 6

Describe MCKD type 1?

Answer 6

• Autosomal dominant
• MUC1 gene
• Progressive CKD without other manifestiations

Question 7

Describe MCKD type 2?

Answer 7

• Autosomal dominant
• UMOD gene
• Gout

Question 8

Describe Fanconi syndrome?

Answer 8

• Describes generalised proximal tubular dysfunction
• Glycosuria
• Low phosphate and uric acid
• Proximal renal tubular acidosis
• Can be associated with Wilson’s disease

Question 9

Describe Adult polycstic kidney disease (APKD)?

Answer 9

• Autosomal dominant
• Small cysts lined by tubular epithelium
  
  • Enlarge slowly over time
• Involve PKD1 (majority) and PKD2 gene mutations
  
  • Coding for polycystin 1 and 2

Question 10

Describe End stage renal disease with the different PKD mutations?

Answer 10

• PKD1
  
  • 50% develop ESRD
• PKD2
  
  • Small minority

Question 11

Describe the clinical features of adult polycystic kidney disease?

Answer 11

• Loin/abdomen discomfort
• HTN
• Haematuria
• UTI/cystic infections
• Renal failure

Question 12

Name some associations of APKD?

Answer 12

• Berry aneurysms
• Mitral and aortic regurgitation
• Diverticula
• Abdominal wall hernias

Question 13

Describe investigations into suspected APKD?

Answer 13

• Family history
• Clinical findings
• Ultrasound
  
  • MRI can also be used if unsure

Question 14

Describe the criteria for an US dianosis of PKD in patients with a family history but unknown genotype?

Answer 14

• 15-39 years
  
  • At least 3 unilateral or bilateral kidney cysts
• 40-59 years
  
  • At least 2 cysts in each kidney
• 60+ years
  
  • At least 4 cysts in each kidney

Question 15

Describe the management of APKD?

Answer 15

• BP control
• Tolvaptan
  
  • Vasopressin V2 receptor antagonist
  • May slow kidney volume increase and GFR decline
• Renal replacement therapy

Question 16

Describe Autosomal recessive PKD?

Answer 16

• PKHD1 gene mutation
  
  • Encodes fibrocystin
• Present in youth with renal cysts and congeital hepatic fibrosis

Question 17

Describe von Hippel-Lindau syndrome?

Answer 17

• Multiple renal cysts
• Renal adenomas
• Renal adenocarcinoma