nephronophthisis

Epidemiology

• most common genetic cause of ESRD in childhood/adolescence

Pathology

• may be associated with retinal pigment degeneration (retinal renal dysplasia syndrome)
• shrunken kidneys
• cystic changes in the renal medulla
• alterations of tubular basement membranes,
• renal tubular atrophy & dilatation
• sclerosing tubulointerstitial nephropathy, renal interstitial fibrosis
• renal cyst development predominantly at the corticomedullary junction
• enlarged kidneys
• renal concentrating defect &/or salt wasting
• may be associateed with hepatic fibrosis
• situs inversus may be present
• retinitis pigmentosa

Genetics

• autosomal recessive
• nephronophthisis 1 is associated with defects in NPHP1
• nephronophthisis 2 is associated with defects in NPHP2
• nephronophthisis 3 is associated with defects in NPHP3
• nephronophthisis 4 is associated with defects in NPHP4
• nephronophthisis 9 is associated with defects in NEK8

Clinical manifestations

• presents in childhood
• polyuria
• polydipsia
• nocturia
• progressive renal failure in young adulthood

More general terms

• polycystic kidney disease
• genetic disease of the kidney

More specific terms

• retinal renal dysplasia syndrome

Database

• OMIM: https://mirror.omim.org/entry/604387
• OMIM: https://mirror.omim.org/entry/602088
• OMIM: https://mirror.omim.org/entry/256100
• OMIM: https://mirror.omim.org/entry/606966
• OMIM: https://mirror.omim.org/entry/613824