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Hereditary Nephrotic Syndromes, Autosomal Recessive

MedGen UID:
432732
Concept ID:
CN043613
Disease or Syndrome
Related genes: NPHS2, NPHS1

Professional guidelines

PubMed

Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J
Pediatr Nephrol 2021 Sep;36(9):2719-2730. Epub 2021 Mar 27 doi: 10.1007/s00467-021-05040-9. PMID: 33772369Free PMC Article
Rood IM, Deegens JKJ, Lugtenberg D, Bongers EMHF, Wetzels JFM
Am J Kidney Dis 2019 Mar;73(3):400-403. Epub 2018 Sep 18 doi: 10.1053/j.ajkd.2018.06.034. PMID: 30241959
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F
Nat Genet 2017 Oct;49(10):1529-1538. Epub 2017 Aug 14 doi: 10.1038/ng.3933. PMID: 28805828Free PMC Article

Recent clinical studies

Etiology

Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J
Pediatr Nephrol 2021 Sep;36(9):2719-2730. Epub 2021 Mar 27 doi: 10.1007/s00467-021-05040-9. PMID: 33772369Free PMC Article
Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O
Pediatr Nephrol 2018 Mar;33(3):473-483. Epub 2017 Oct 23 doi: 10.1007/s00467-017-3819-9. PMID: 29058154
Crovetto F, Moroni G, Zaina B, Acaia B, Ossola MW, Fedele L
Int Urol Nephrol 2013 Aug;45(4):1223-7. Epub 2012 Mar 15 doi: 10.1007/s11255-012-0154-8. PMID: 22418765
Niaudet P
Nat Rev Nephrol 2010 Dec;6(12):736-43. Epub 2010 Sep 28 doi: 10.1038/nrneph.2010.122. PMID: 20877305
Norio R, Rapola J
Prog Clin Biol Res 1989;305:179-92. PMID: 2668971

Diagnosis

Thomas RG, Senthilkumar RP, Velayudham B, Vasudevan C, Murugesan T
Saudi J Kidney Dis Transpl 2020 May-Jun;31(3):676-680. doi: 10.4103/1319-2442.289453. PMID: 32655053
Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O
Pediatr Nephrol 2018 Mar;33(3):473-483. Epub 2017 Oct 23 doi: 10.1007/s00467-017-3819-9. PMID: 29058154
Deltas C, Savva I, Voskarides K, Papazachariou L, Pierides A
Nephron 2015;130(4):271-80. Epub 2015 Jul 17 doi: 10.1159/000435789. PMID: 26201269
Winn MP
Nephrol Dial Transplant 2003 Aug;18 Suppl 6:vi14-20. doi: 10.1093/ndt/gfg1070. PMID: 12953036
Norio R, Rapola J
Prog Clin Biol Res 1989;305:179-92. PMID: 2668971

Therapy

Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J
Pediatr Nephrol 2021 Sep;36(9):2719-2730. Epub 2021 Mar 27 doi: 10.1007/s00467-021-05040-9. PMID: 33772369Free PMC Article
Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O
Pediatr Nephrol 2018 Mar;33(3):473-483. Epub 2017 Oct 23 doi: 10.1007/s00467-017-3819-9. PMID: 29058154
Crovetto F, Moroni G, Zaina B, Acaia B, Ossola MW, Fedele L
Int Urol Nephrol 2013 Aug;45(4):1223-7. Epub 2012 Mar 15 doi: 10.1007/s11255-012-0154-8. PMID: 22418765
Ruiz XD, Gadea CM
Conn Med 2011 Jan;75(1):17-9. PMID: 21329287
Hinkes BG
Pediatr Nephrol 2008 Jun;23(6):847-50. doi: 10.1007/s00467-008-0747-8. PMID: 18270750

Prognosis

Ozdemir G, Gulhan B, Atayar E, Saygılı S, Soylemezoglu O, Ozcakar ZB, Eroglu FK, Candan C, Demir BK, Soylu A, Yüksel S, Alpay H, Agbas A, Duzova A, Hayran M, Ozaltin F, Topaloglu R
Pediatr Nephrol 2020 Oct;35(10):1941-1952. Epub 2020 May 11 doi: 10.1007/s00467-020-04574-8. PMID: 32394188
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; NephroS; UK study of Nephrotic Syndrome
J Am Soc Nephrol 2017 May;28(5):1614-1621. Epub 2016 Dec 8 doi: 10.1681/ASN.2016040387. PMID: 27932480Free PMC Article
Crovetto F, Moroni G, Zaina B, Acaia B, Ossola MW, Fedele L
Int Urol Nephrol 2013 Aug;45(4):1223-7. Epub 2012 Mar 15 doi: 10.1007/s11255-012-0154-8. PMID: 22418765
Hinkes BG
Pediatr Nephrol 2008 Jun;23(6):847-50. doi: 10.1007/s00467-008-0747-8. PMID: 18270750
Norio R, Rapola J
Prog Clin Biol Res 1989;305:179-92. PMID: 2668971

Clinical prediction guides

Thomas RG, Senthilkumar RP, Velayudham B, Vasudevan C, Murugesan T
Saudi J Kidney Dis Transpl 2020 May-Jun;31(3):676-680. doi: 10.4103/1319-2442.289453. PMID: 32655053
Funk SD, Bayer RH, Malone AF, McKee KK, Yurchenco PD, Miner JH
J Am Soc Nephrol 2018 Mar;29(3):949-960. Epub 2017 Dec 20 doi: 10.1681/ASN.2017090997. PMID: 29263159Free PMC Article
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; NephroS; UK study of Nephrotic Syndrome
J Am Soc Nephrol 2017 May;28(5):1614-1621. Epub 2016 Dec 8 doi: 10.1681/ASN.2016040387. PMID: 27932480Free PMC Article
Nishizawa Y, Takei T, Miyaoka T, Kamei D, Mochizuki T, Nitta K
J Obstet Gynaecol Res 2016 Mar;42(3):331-5. Epub 2015 Dec 2 doi: 10.1111/jog.12897. PMID: 26628290
Weber S, Tönshoff B
Transplantation 2005 Sep 27;80(1 Suppl):S128-34. doi: 10.1097/01.tp.0000187110.25512.82. PMID: 16286890

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