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Nephronophthisis 8

MedGen UID:
468521
Concept ID:
CN119610
Disease or Syndrome
Gene (location): RPGRIP1L (16q12.2)

Professional guidelines

PubMed

Gjerstad AC, Skrunes R, Tøndel C, Åsberg A, Leh S, Klingenberg C, Døllner H, Hammarstrøm C, Bjerre AK
Pediatr Nephrol 2023 Apr;38(4):1249-1256. Epub 2022 Aug 22 doi: 10.1007/s00467-022-05706-y. PMID: 35994104Free PMC Article
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM
Hum Mutat 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. PMID: 20232449Free PMC Article

Recent clinical studies

Etiology

Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q
Am J Ophthalmol 2023 Aug;252:188-204. Epub 2023 Mar 27 doi: 10.1016/j.ajo.2023.03.025. PMID: 36990420
Avcı B, Baskın E, Gülleroğlu K, Çaltık Yılmaz A, Kantar A, Akdur A, Moray G, Haberal M
Exp Clin Transplant 2022 May;20(Suppl 3):122-125. doi: 10.6002/ect.PediatricSymp2022.O39. PMID: 35570616
Rao J, Liu X, Mao J, Tang X, Shen Q, Li G, Sun L, Bi Y, Wang X, Qian Y, Wu B, Wang H, Zhou W, Ma D, Zheng B, Shen Y, Chen Z, Luan J, Wang X, Wang M, Dang X, Wang Y, Wu Y, Hou L, Sun S, Li Q, Liu X, Bai H, Yang Y, Shao X, Li Y, Zheng S, Han M, Liu C, Cao G, Zhao L, Qiu S, Dong Y, Zhu Y, Wang F, Zhang D, Li Y, Zhao L, Yang C, Luo X, Chen L, Jiang X, Zhang A, Xu H; for “Internet Plus” Nephrology Alliance of National Center for Children's Care
Clin Genet 2019 Nov;96(5):402-410. Epub 2019 Jul 25 doi: 10.1111/cge.13606. PMID: 31328266
Mariman EC, Vink RG, Roumans NJ, Bouwman FG, Stumpel CT, Aller EE, van Baak MA, Wang P
Br J Nutr 2016 Aug;116(4):576-92. Epub 2016 Jun 20 doi: 10.1017/S0007114516002282. PMID: 27323230
Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group
Hum Genet 2013 Aug;132(8):865-84. Epub 2013 Apr 5 doi: 10.1007/s00439-013-1297-0. PMID: 23559409Free PMC Article

Diagnosis

Leggatt GP, Seaby EG, Veighey K, Gast C, Gilbert RD, Ennis S
Genes (Basel) 2023 Aug 3;14(8) doi: 10.3390/genes14081582. PMID: 37628633Free PMC Article
Kayser N, Zaiser F, Veenstra AC, Wang H, Göcmen B, Eckert P, Franz H, Köttgen A, Walz G, Yakulov TA
Hum Mol Genet 2022 Dec 16;31(24):4143-4158. doi: 10.1093/hmg/ddac160. PMID: 35861640Free PMC Article
Rao J, Liu X, Mao J, Tang X, Shen Q, Li G, Sun L, Bi Y, Wang X, Qian Y, Wu B, Wang H, Zhou W, Ma D, Zheng B, Shen Y, Chen Z, Luan J, Wang X, Wang M, Dang X, Wang Y, Wu Y, Hou L, Sun S, Li Q, Liu X, Bai H, Yang Y, Shao X, Li Y, Zheng S, Han M, Liu C, Cao G, Zhao L, Qiu S, Dong Y, Zhu Y, Wang F, Zhang D, Li Y, Zhao L, Yang C, Luo X, Chen L, Jiang X, Zhang A, Xu H; for “Internet Plus” Nephrology Alliance of National Center for Children's Care
Clin Genet 2019 Nov;96(5):402-410. Epub 2019 Jul 25 doi: 10.1111/cge.13606. PMID: 31328266
Renkema KY, Stokman MF, Giles RH, Knoers NV
Nat Rev Nephrol 2014 Aug;10(8):433-44. Epub 2014 Jun 10 doi: 10.1038/nrneph.2014.95. PMID: 24914583
Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group
Hum Genet 2013 Aug;132(8):865-84. Epub 2013 Apr 5 doi: 10.1007/s00439-013-1297-0. PMID: 23559409Free PMC Article

Therapy

Gjerstad AC, Skrunes R, Tøndel C, Åsberg A, Leh S, Klingenberg C, Døllner H, Hammarstrøm C, Bjerre AK
Pediatr Nephrol 2023 Apr;38(4):1249-1256. Epub 2022 Aug 22 doi: 10.1007/s00467-022-05706-y. PMID: 35994104Free PMC Article
Avcı B, Baskın E, Gülleroğlu K, Çaltık Yılmaz A, Kantar A, Akdur A, Moray G, Haberal M
Exp Clin Transplant 2022 May;20(Suppl 3):122-125. doi: 10.6002/ect.PediatricSymp2022.O39. PMID: 35570616
Torres VE
Semin Nephrol 2008 May;28(3):306-17. doi: 10.1016/j.semnephrol.2008.03.003. PMID: 18519091Free PMC Article
Torres VE
Clin J Am Soc Nephrol 2008 Jul;3(4):1212-8. Epub 2008 Apr 23 doi: 10.2215/CJN.05281107. PMID: 18434616
Henriksson C, Andersen HJ, Gustafsson A, Gelin LE
Acta Paediatr Scand 1975 Nov;64(6):833-8. doi: 10.1111/j.1651-2227.1975.tb03933.x. PMID: 171908

Prognosis

Avcı B, Baskın E, Gülleroğlu K, Çaltık Yılmaz A, Kantar A, Akdur A, Moray G, Haberal M
Exp Clin Transplant 2022 May;20(Suppl 3):122-125. doi: 10.6002/ect.PediatricSymp2022.O39. PMID: 35570616
Chen IY, Whitney-Miller CL, Liao X
Diagn Pathol 2021 Aug 30;16(1):81. doi: 10.1186/s13000-021-01142-y. PMID: 34461951Free PMC Article
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN)
Clin J Am Soc Nephrol 2017 Dec 7;12(12):1974-1983. Epub 2017 Nov 16 doi: 10.2215/CJN.01280217. PMID: 29146700Free PMC Article
Büscher R, Büscher AK, Cetiner M, Treckmann JW, Paul A, Vester U, Hoyer PF
Pediatr Transplant 2015 Dec;19(8):858-65. Epub 2015 Sep 5 doi: 10.1111/petr.12595. PMID: 26341656
Soliman NA, Hildebrandt F, Otto EA, Nabhan MM, Allen SJ, Badr AM, Sheba M, Fadda S, Gawdat G, El-Kiky H
Saudi J Kidney Dis Transpl 2012 Sep;23(5):1090-8. doi: 10.4103/1319-2442.100968. PMID: 22982934Free PMC Article

Clinical prediction guides

Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q
Am J Ophthalmol 2023 Aug;252:188-204. Epub 2023 Mar 27 doi: 10.1016/j.ajo.2023.03.025. PMID: 36990420
Kayser N, Zaiser F, Veenstra AC, Wang H, Göcmen B, Eckert P, Franz H, Köttgen A, Walz G, Yakulov TA
Hum Mol Genet 2022 Dec 16;31(24):4143-4158. doi: 10.1093/hmg/ddac160. PMID: 35861640Free PMC Article
Mariman EC, Vink RG, Roumans NJ, Bouwman FG, Stumpel CT, Aller EE, van Baak MA, Wang P
Br J Nutr 2016 Aug;116(4):576-92. Epub 2016 Jun 20 doi: 10.1017/S0007114516002282. PMID: 27323230
Salomon R, Saunier S, Niaudet P
Pediatr Nephrol 2009 Dec;24(12):2333-44. Epub 2008 Jul 8 doi: 10.1007/s00467-008-0840-z. PMID: 18607645Free PMC Article
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB
J Child Neurol 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. PMID: 10511339

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