KEGG   DISEASE: H00626Help
Entry
H00626                      Disease                                

Name
Nephrotic syndrome and focal segmental glomerulosclerosis
Description
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.
Category
Kidney disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00626  Nephrotic syndrome and focal segmental glomerulosclerosis
Human diseases in ICD-10 classification [BR:br08403]
 14. Diseases of the genitourinary system (N00-N99)
  N00-N08  Glomerular diseases
   N04  Nephrotic syndrome
    H00626  Nephrotic syndrome and focal segmental glomerulosclerosis
BRITE hierarchy
Pathway
Focal adhesion
Adherens junction  
Tight junction  
Regulation of actin cytoskeleton
Gene
(NS) NPHS1 [HSA:4868]
(NS) PDCN [HSA:7827] [KO:K18268]
(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]
Drug
Prednisolone [DR:D00472]
Ciclosporin [DR:D00184]
Mizoribine [DR:D01392]
Cyclophosphamide [DR:D00287]
Other DBs
Reference
PMID:21691316 (gene, description)
  Authors
Gubler MC
  Title
Nephrotic syndrome: Genetic testing in steroid-resistant nephrotic syndrome.
  Journal
Nat Rev Nephrol 7:430-1 (2011)
Reference
PMID:20969579 (gene)
  Authors
Benoit G, Machuca E, Heidet L, Antignac C
  Title
Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
  Journal
Ann N Y Acad Sci 1214:83-98 (2010)
Reference
PMID:21110043 (gene)
  Authors
Gbadegesin R, Lavin P, Foreman J, Winn M
  Title
Pathogenesis and therapy of focal segmental glomerulosclerosis: an update.
  Journal
Pediatr Nephrol 26:1001-15 (2011)
Reference
PMID:19562370 (gene, description)
  Authors
Lowik MM, Groenen PJ, Levtchenko EN, Monnens LA, van den Heuvel LP
  Title
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
  Journal
Eur J Pediatr 168:1291-304 (2009)
Reference
PMID:12704574 (gene)
  Authors
Pollak MR
  Title
The genetic basis of FSGS and steroid-resistant nephrosis.
  Journal
Semin Nephrol 23:141-6 (2003)
Reference
PMID:17537341 (drug)
  Authors
Colquitt JL, Kirby J, Green C, Cooper K, Trompeter RS
  Title
The clinical effectiveness and cost-effectiveness of treatments for children with idiopathic steroid-resistant nephrotic syndrome: a systematic review.
  Journal
Health Technol Assess 11:iii-iv, ix-xi, 1-93 (2007)
Reference
PMID:24500706 (drug)
  Authors
Kamei K, Okada M, Sato M, Fujimaru T, Ogura M, Nakayama M, Kaito H, Iijima K, Ito S
  Title
Rituximab treatment combined with methylprednisolone pulse therapy and immunosuppressants for childhood steroid-resistant nephrotic syndrome.
  Journal
Pediatr Nephrol 29:1181-7 (2014)

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