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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

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
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
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.
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
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
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

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
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
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.
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
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
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
Pregnancy in women with Alport syndrome.
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
Living donor kidney transplantation in patients with hereditary nephropathies.
Niaudet P
Nat Rev Nephrol 2010 Dec;6(12):736-43. Epub 2010 Sep 28 doi: 10.1038/nrneph.2010.122. PMID: 20877305

Diagnosis

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
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
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.
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
Pregnancy in women with Alport syndrome.
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
NPHS3: new clues for understanding idiopathic nephrotic syndrome.
Hinkes BG
Pediatr Nephrol 2008 Jun;23(6):847-50. doi: 10.1007/s00467-008-0747-8. PMID: 18270750
Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis.
Winn MP
Nephrol Dial Transplant 2003 Aug;18 Suppl 6:vi14-20. doi: 10.1093/ndt/gfg1070. PMID: 12953036

Therapy

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
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
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
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
Pregnancy in women with Alport syndrome.
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
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation.
Malina M, Cinek O, Janda J, Seeman T
Pediatr Nephrol 2009 Oct;24(10):2051-3. Epub 2009 Jun 3 doi: 10.1007/s00467-009-1211-0. PMID: 19495806
NPHS3: new clues for understanding idiopathic nephrotic syndrome.
Hinkes BG
Pediatr Nephrol 2008 Jun;23(6):847-50. doi: 10.1007/s00467-008-0747-8. PMID: 18270750

Prognosis

MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
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
Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome.
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
Pregnancy in women with Alport syndrome.
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
NPHS3: new clues for understanding idiopathic nephrotic syndrome.
Hinkes BG
Pediatr Nephrol 2008 Jun;23(6):847-50. doi: 10.1007/s00467-008-0747-8. PMID: 18270750
Congenital and infantile nephrotic syndromes.
Norio R, Rapola J
Prog Clin Biol Res 1989;305:179-92. PMID: 2668971

Clinical prediction guides

A rare cause of nephrotic syndrome.
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
MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
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
Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome.
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
Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.
Lücke T, Franke D, Clewing JM, Boerkoel CF, Ehrich JH, Das AM, Zivicnjak M
Pediatrics 2006 Aug;118(2):e400-7. Epub 2006 Jun 30 doi: 10.1542/peds.2005-2614. PMID: 16816006
Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.
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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