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 abnomal renal tubules leading to fibrosis
- Cysts are mainly in the corticomedullary junction/medulla
Clinical presentation
- Slow loss of kidney function
- Polydipsia
- Enuresis
- Pruritus
- Pallor
- Nausea
Investigations
- Family history
- CT scan
Management
- Renal transplantation/dialysis once reach severe CKD
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