Autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease

Aetiology

• Rare inherited cystic disease - autosomal dominant
• Presents average age 28 years

Pathophysiology

• Morphologically abnormal renal tubules leading to fibrosis
• Cysts are mainly in the corticomedullary junction/medulla

Clinical features

• Slow loss of kidney function
• Polydipsia
• Enuresis
• Pruritus
• Pallor
• Nausea

Investigations

• Family history
• Imaging: CT scan

Management

• Renal transplantation/dialysis once reach severe CKD