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Nephronophthisis type 6(NPHP6)

MedGen UID:
754744
Concept ID:
C2959563
Disease or Syndrome
Synonym: NPHP6
SNOMED CT: Nephronophthisis type 6 (447335007)

Recent clinical studies

Etiology

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
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M
Clin J Am Soc Nephrol 2017 Dec 7;12(12):1962-1973. Epub 2017 Nov 16 doi: 10.2215/CJN.05660517. PMID: 29146704Free PMC Article
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI
Pediatr Nephrol 2016 Jan;31(1):113-9. Epub 2015 Aug 11 doi: 10.1007/s00467-015-3185-4. PMID: 26260382
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
Sattar S, Gleeson JG
Dev Med Child Neurol 2011 Sep;53(9):793-798. Epub 2011 Jun 17 doi: 10.1111/j.1469-8749.2011.04021.x. PMID: 21679365Free PMC Article

Diagnosis

Blasco M, Quiroga B, García-Aznar JM, Castro-Alonso C, Fernández-Granados SJ, Luna E, Fernández Fresnedo G, Ossorio M, Izquierdo MJ, Sanchez-Ospina D, Castañeda-Infante L, Mouzo R, Cao M, Besada-Cerecedo ML, Pan-Lizcano R, Torra R, Ortiz A, de Sequera P; GENSEN Study Investigators
Am J Kidney Dis 2024 Dec;84(6):719-730.e1. Epub 2024 Jul 6 doi: 10.1053/j.ajkd.2024.04.021. PMID: 38972501
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
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI
Pediatr Nephrol 2016 Jan;31(1):113-9. Epub 2015 Aug 11 doi: 10.1007/s00467-015-3185-4. PMID: 26260382
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
Tolia V, Dubois RS, Watts FB Jr, Perrin E
J Pediatr Gastroenterol Nutr 1987 Nov-Dec;6(6):971-6. doi: 10.1097/00005176-198711000-00026. PMID: 3681584

Therapy

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
AlZabali SM, AlAnazi A, Rahim KA, Faqeehi HY
J Med Case Rep 2021 Jul 13;15(1):366. doi: 10.1186/s13256-021-02905-3. PMID: 34253224Free PMC Article
El-Reshaid K
Saudi J Kidney Dis Transpl 2013 Nov;24(6):1217-22. doi: 10.4103/1319-2442.121304. PMID: 24231489

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
AlZabali SM, AlAnazi A, Rahim KA, Faqeehi HY
J Med Case Rep 2021 Jul 13;15(1):366. doi: 10.1186/s13256-021-02905-3. PMID: 34253224Free PMC Article
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M
Clin J Am Soc Nephrol 2017 Dec 7;12(12):1962-1973. Epub 2017 Nov 16 doi: 10.2215/CJN.05660517. PMID: 29146704Free PMC Article
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI
Pediatr Nephrol 2016 Jan;31(1):113-9. Epub 2015 Aug 11 doi: 10.1007/s00467-015-3185-4. PMID: 26260382
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

Clinical prediction guides

Blasco M, Quiroga B, García-Aznar JM, Castro-Alonso C, Fernández-Granados SJ, Luna E, Fernández Fresnedo G, Ossorio M, Izquierdo MJ, Sanchez-Ospina D, Castañeda-Infante L, Mouzo R, Cao M, Besada-Cerecedo ML, Pan-Lizcano R, Torra R, Ortiz A, de Sequera P; GENSEN Study Investigators
Am J Kidney Dis 2024 Dec;84(6):719-730.e1. Epub 2024 Jul 6 doi: 10.1053/j.ajkd.2024.04.021. PMID: 38972501
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M
Clin J Am Soc Nephrol 2017 Dec 7;12(12):1962-1973. Epub 2017 Nov 16 doi: 10.2215/CJN.05660517. PMID: 29146704Free PMC Article
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI
Pediatr Nephrol 2016 Jan;31(1):113-9. Epub 2015 Aug 11 doi: 10.1007/s00467-015-3185-4. PMID: 26260382
Maron JL, Hwang JS, Pathak S, Ruthazer R, Russell RL, Alterovitz G
J Pediatr 2015 Feb;166(2):282-8.e5. doi: 10.1016/j.jpeds.2014.10.065. PMID: 25620512Free PMC Article
Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC
Kidney Int 2002 Oct;62(4):1385-94. doi: 10.1111/j.1523-1755.2002.kid581.x. PMID: 12234310

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