KEGG   DISEASE: Nephrotic syndromeHelp
Entry
H01657                      Disease                                

Name
Nephrotic syndrome
Description
Nephrotic syndrome is a heterogeneous group of disorders characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, hyperlipidemia, and edema. Congenital nephrotic syndrome is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. First line treatment is with oral corticosteroids, but some patients do not respond to this treatment. Steroid-resistant nephrotic syndrome (SRNS) typically manifests histologically as focal segmental glomerulosclerosis. Calcineurin inhibitors with/without intravenous methylprednisolone pulse therapy (MPT) constitute the standard treatment for SRNS. It has been reported that additional rituximab treatment combined with conventional MPT and immunosuppressive agents is a promising option.
Category
Urinary system disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H01657  Nephrotic syndrome
Human diseases in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the urinary system
   Glomerular diseases
    GB41  Nephrotic syndrome
     H01657  Nephrotic syndrome
BRITE hierarchy
Gene
(NPHS1) NPHS1 [HSA:4868]
(NPHS2) PDCN [HSA:7827] [KO:K18268]
(NPHS3) PLCE1 [HSA:51196] [KO:K05860]
(NPHS4) WT1 [HSA:7490] [KO:K09234]
(NPHS5) LAMB2 [HSA:3913] [KO:K06243]
(NPHS6) PTPRO [HSA:5800] [KO:K18035]
(NPHS7) DGKE [HSA:8526] [KO:K00901]
(NPHS8) ARHGDIA [HSA:396] [KO:K12462]
(NPHS9) COQ8B [HSA:79934] [KO:K08869]
(NPHS10) EMP2 [HSA:2013]
(NPHS11) NUP107 [HSA:57122] [KO:K14301]
(NPHS12) NUP93 [HSA:9688] [KO:K14309]
(NPHS13) NUP205 [HSA:23165] [KO:K14310]
(NPHS14) SGPL1 [HSA:8879] [KO:K01634]
(NPHS15) MAGI2 [HSA:9863] [KO:K05629]
(NPHS16) KANK2 [HSA:25959] [KO:K22808]
Drug
Triamcinolone acetonide [DR:D00983]
Dexamethasone [DR:D00292]
Dexamethasone sodium phosphate [DR:D00975]
Hydrocortisone [DR:D00088]
Hydrocortisone sodium succinate [DR:D00978]
Prednisolone [DR:D00472]
Prednisolone sodium phosphate [DR:D00981]
Chlorothiazide sodium [DR:D03471]
Chlorthalidone [DR:D00272]
Metolazone [DR:D00431]
Bumetanide [DR:D00247]
Ethacrynic acid [DR:D00313]
Spironolactone [DR:D00443]
Spironolactone - hydrochlorothiazide mixt [DR:D10270]
Methylprednisolone [DR:D00407]
Corticotropin [DR:D00146]
Cyclophosphamide [DR:D00287]
Other DBs
ICD-11: GB41
ICD-10: N04
MeSH: D009404
OMIM: 256300 600995 610725 256370 614199 614196 615008 615244 615573 615861 616730 616892 616893 617575 617609 617783
Reference
  Authors
Gubler MC
  Title
Nephrotic syndrome: Genetic testing in steroid-resistant nephrotic syndrome.
  Journal
Nat Rev Nephrol 7:430-1 (2011)
DOI:10.1038/nrneph.2011.75
Reference
  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)
DOI:10.1111/j.1749-6632.2010.05817.x
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)
DOI:10.3310/hta11210
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)
DOI:10.1007/s00467-014-2765-z
Reference
  Authors
Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA
  Title
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
  Journal
Kidney Int 91:937-947 (2017)
DOI:10.1016/j.kint.2016.10.013
Reference
  Authors
Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Muller T
  Title
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
  Journal
Hum Mutat 38:365-372 (2017)
DOI:10.1002/humu.23192
Reference
  Authors
Bierzynska A, Soderquest K, Dean P, Colby E, Rollason R, Jones C, Inward CD, McCarthy HJ, Simpson MA, Lord GM, Williams M, Welsh GI, Koziell AB, Saleem MA
  Title
MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
  Journal
J Am Soc Nephrol 28:1614-1621 (2017)
DOI:10.1681/ASN.2016040387
Reference
  Authors
Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F
  Title
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
  Journal
J Clin Invest 125:2375-84 (2015)
DOI:10.1172/JCI79504

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