Nephronophthisis - medullary cystic disease complex

The nephronophthosis - medullary cystic disease complex is one of many paediatric cystic renal diseases.

Clinical presentation

Presentation with polydipsia and polyuria tends to progress to end stage renal failure within 5 - 10 years.

Pathology

It comprises a group of related conditions characterised by multiple cysts typically at the corticomedullary junction and medulla. The medullary cysts are small. The can be associated tubular atrophy & interstitial fibrosis.

Variants

familial nephronophthosis : autosomal recessive (40%)
sporadic : non familial (20%)
retinal renal syndrome / : autosomal recessive (15%) associated with retinitis pigmentosa
adult onset medullary cystic disease : autosomal dominant (15%)