Steroid resistant nephrotic Syndrome-
Mutation in NHPS2 results in a syndrome of a steroid-resistant nephrotic syndrome of childhood onset. Affected children show pathologic features of FSGS(focal segmental glomerulosclerosis). A distinctive pattern of autosomal recessive FSGS results from a mutation in the NPHS2 gene, which maps to chromosome 1q25-q31 and encodes the protein product podocin. Podocin has also been localized to the slit diaphragm.mutations in NPHS2 result in a syndrome of steroid-resistant nephrotic syndrome of childhood onset. FromPATHOLOGIC BASIS OF DISEASE ROBBINS 8th edition pg no:927
Nephrin
Alphanactinin-4
Podocin
Transient receptor Potential - 6
Urinary tract