KEGG   DISEASE: ネフローゼ症候群
エントリ  
H01657                                                             
名称    
ネフローゼ症候群
概要    
Nephrotic syndrome (NPHS) 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.
カテゴリ  
泌尿器系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 泌尿器系疾患
  腎疾患
   H01657  ネフローゼ症候群
ICD-11 による疾患分類 [BR:jp08403]
 16 泌尿生殖器系の疾患
  尿路系の疾患
   糸球体疾患
    GB41  ネフローゼ症候群
     H01657  ネフローゼ症候群
特定疾患 (難病) [jp08407.html]
 H01657
パスウェイ 
hsa03013  核細胞質間輸送
hsa04151  PI3K-Akt シグナル伝達経路
hsa04070  ホスファチジルイノシトールシグナル伝達経路
病因遺伝子 
(NPHS1) NPHS1 [HSA:4868] [KO:K24496]
(NPHS2) NPHS2 [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]
(NPHS17) NUP85 [HSA:79902] [KO:K14304]
(NPHS18) NUP133 [HSA:55746] [KO:K14300]
(NPHS19) NUP160 [HSA:23279] [KO:K14303]
(NPHS20) TBC1D8B [HSA:54885] [KO:K19951]
(NPHS21) AVIL [HSA:10677] [KO:K08017]
(NPHS22) NOS1AP [HSA:9722] [KO:K16513]
(NPHS23) KIRREL1 [HSA:55243]
(NPHS24) DAAM2 [HSA:23500] [KO:K04512]
治療薬   
デキサメタゾン [DR:D00292]
デキサメタゾンリン酸エステルナトリウム [DR:D00975]
ベタメタゾンリン酸エステルナトリウム [DR:D00972]
トリアムシノロンアセトニド [DR:D00983]
シクロスポリン [DR:D00184]
テトラコサクチド酢酸塩 [DR:D02105]
ヒドロコルチゾン [DR:D00088]
コルチゾン酢酸エステル [DR:D00973]
トリアムシノロン [DR:D00385]
ベタメタゾン [DR:D00244]
プレドニゾロン [DR:D00472]
プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
メチルプレドニゾロン [DR:D00407]
メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
メチルプレドニゾロン酢酸エステル [DR:D00979]
ミゾリビン [DR:D01392]
シクロホスファミド水和物 [DR:D00287]
リツキシマブ [DR:D02994]
茵蔯蒿湯 [DR:D06917]
越婢加朮湯 [DR:D06921]
五苓散エキス [DR:D06960]
真武湯エキス [DR:D06995]
猪苓湯 [DR:D07014]
当帰芍薬散エキス [DR:D07021]
防已黄耆湯エキス [DR:D07040]
木防已湯 [DR:D07047]
リンク   
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 618176 618177 618178 301028 618594 619155 619201 619263
文献    
  著者
Gubler MC
  タイトル
Nephrotic syndrome: Genetic testing in steroid-resistant nephrotic syndrome.
  雑誌
Nat Rev Nephrol 7:430-1 (2011)
DOI:10.1038/nrneph.2011.75
文献    
  著者
Benoit G, Machuca E, Heidet L, Antignac C
  タイトル
Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
  雑誌
Ann N Y Acad Sci 1214:83-98 (2010)
DOI:10.1111/j.1749-6632.2010.05817.x
文献    
PMID:28117080 (NPHS1-13)
  著者
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
  タイトル
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
  雑誌
Kidney Int 91:937-947 (2017)
DOI:10.1016/j.kint.2016.10.013
文献    
PMID:28181337 (NPHS14)
  著者
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
  タイトル
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
  雑誌
Hum Mutat 38:365-372 (2017)
DOI:10.1002/humu.23192
文献    
PMID:27932480 (NPHS15)
  著者
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
  タイトル
MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
  雑誌
J Am Soc Nephrol 28:1614-1621 (2017)
DOI:10.1681/ASN.2016040387
文献    
PMID:25961457 (NPHS16)
  著者
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
  タイトル
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
  雑誌
J Clin Invest 125:2375-84 (2015)
DOI:10.1172/JCI79504
文献    
PMID:30179222 (NPHS12_13_17_18_19)
  著者
Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmuller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroglu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nurnberg P, Khokha MK, Hildebrandt F
  タイトル
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
  雑誌
J Clin Invest 128:4313-4328 (2018)
DOI:10.1172/JCI98688
文献    
PMID:29058690 (NPHS21)
  著者
Rao J, Ashraf S, Tan W, van der Ven AT, Gee HY, Braun DA, Feher K, George SP, Esmaeilniakooshkghazi A, Choi WI, Jobst-Schwan T, Schneider R, Schmidt JM, Widmeier E, Warejko JK, Hermle T, Schapiro D, Lovric S, Shril S, Daga A, Nayir A, Shenoy M, Tse Y, Bald M, Helmchen U, Mir S, Berdeli A, Kari JA, El Desoky S, Soliman NA, Bagga A, Mane S, Jairajpuri MA, Lifton RP, Khurana S, Martins JC, Hildebrandt F
  タイトル
Advillin acts upstream of phospholipase C 1 in steroid-resistant nephrotic syndrome.
  雑誌
J Clin Invest 127:4257-4269 (2017)
DOI:10.1172/JCI94138
文献    
PMID:33523862 (NPHS22)
  著者
Majmundar AJ, Buerger F, Forbes TA, Klambt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F
  タイトル
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
  雑誌
Sci Adv 7:eabe1386 (2021)
DOI:10.1126/sciadv.abe1386
文献    
PMID:31472902 (NPHS23)
  著者
Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D
  タイトル
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
  雑誌
Kidney Int 96:883-889 (2019)
DOI:10.1016/j.kint.2019.06.016
文献    
PMID:33232676 (NPHS24)
  著者
Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, Seltzsam S, Kitzler TM, Mao Y, Buerger F, Majmundar AJ, Onuchic-Whitford AC, Kolvenbach CM, Schierbaum L, Schneider S, Halawi AA, Nakayama M, Mann N, Connaughton DM, Klambt V, Wagner M, Riedhammer KM, Renders L, Katsura Y, Thumkeo D, Soliman NA, Mane S, Lifton RP, Shril S, Khokha MK, Hoefele J, Goode BL, Hildebrandt F
  タイトル
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
  雑誌
Am J Hum Genet 107:1113-1128 (2020)
DOI:10.1016/j.ajhg.2020.11.008
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