Nephrotic syndrome and focal segmental glomerulosclerosis

Congenital nephrotic syndrome (NS) and focal segmental glomerulosclerosis (FSGS) form a spectrum of podocyte diseases. Nephrotic syndrome is characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, and edema, and divided into steroid-sensitive and steroid-resistant forms. Affected patients develop FSGS and progress to end-stage renal disease. FSGS is defined as a sclerosing lesion in glomerular capillaries.

Kidney disease

(NS) NPHS1 [HSA:4868]
(NS) PDCN [HSA:7827]
(NS) WT1 [HSA:7490] [KO:K09234]
(NS, FSGS) PLCE1 [HSA:51196] [KO:K05860]
(FSGS) ACTN4 [HSA:81] [KO:K05699]
(FSGS) TRPC6 [HSA:7225] [KO:K04969]
(FSGS) CD2AP [HSA:23607] [KO:K13738]
(FSGS) INF2 [HSA:64423]

PMID:21691316 (gene, description)

Gubler MC

Nephrotic syndrome: Genetic testing in steroid-resistant nephrotic syndrome.

Nat Rev Nephrol 7:430-1 (2011)

PMID:20969579 (gene)

Benoit G, Machuca E, Heidet L, Antignac C

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.

Ann N Y Acad Sci 1214:83-98 (2010)

PMID:21110043 (gene)

Gbadegesin R, Lavin P, Foreman J, Winn M

Pathogenesis and therapy of focal segmental glomerulosclerosis: an update.

Pediatr Nephrol 26:1001-15 (2011)

PMID:19562370 (gene, description)

Lowik MM, Groenen PJ, Levtchenko EN, Monnens LA, van den Heuvel LP

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.

Eur J Pediatr 168:1291-304 (2009)

PMID:12704574 (gene)

Pollak MR

The genetic basis of FSGS and steroid-resistant nephrosis.

Semin Nephrol 23:141-6 (2003)