Chatelain described NPS in 1820, and Little first documented its hereditary nature- autosomal dominant in 1897.

Mutations in the gene encoding transcription factor LMX 1, mapped on the long arm of chromosome 9.

Renal disease is secondary to immune damage to the altered glomerular basement membrane and altered collagen and indistinguishable from patients with Goodpasture disease.

10% die of renal insufficiency.

Patellar involvement is present in approximately 90% of patients: however patellar aplasia occurs in only 20%.

Please see the link below for further discussion.