Congenital abnormalities of kidneys

Question 1

Renal agenesis

Answer 1

failure of uteric bud to interact with metanephric mesenchyme
• Causes compensatory hypertrophy in the remaining kidney leading to renal failure and hypertension

Question 2

Bilateral renal agenesis

Answer 2

• No kidneys develop
• Less amniotic fluid as there is a lack of fetal urine leading to oligohydrominos
• Potter syndrome
• Lack of fetal lung development as a result
• Compressed in amniotic sac -> developmental abnormalities

Question 3

Horse shoe kidney

Answer 3

• Two kidneys fuse togather

* Usually asymptomatic

Question 4

Polycystic kidney disease

Answer 4

1. Heterozygous mutation of PKD 1 gene or PKD2 gene ( only one allele mutated)
   • Other allele goes onto mutate in lifetime
   • Loss of polycystin protein formation leads to over proliferation of epithelium and cysts
2. Homozygous mutation of both alleles of PKD 1 gene or PKD 2 gene
   • Presents during neonatal period
   • Renal failure -> less fetal urine -> oligohydromios/Potter syndrome

Question 5

APKD symptoms

Answer 5

• loin pain

* Haematuria from cysts