steroid-resistance nephrotic syndrome

Pathology

• focal segmental glomerulosclerosis is present at later stages

Genetics

• autosomal recessive
• mutation in podocin gene

Clinical manifestations

• onset between 3 months & 5 years
• resistance to steroid therap
• rapid progression to end-stage renal disease

More general terms

• nephrotic syndrome
• genetic syndrome (multisystem disorder)

Additional terms

• podocin (NPHS2)

Database

• OMIM: https://mirror.omim.org/entry/600995