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Renal phenotype

MedGen UID:
833944
Concept ID:
CN230747
Finding

Professional guidelines

PubMed

Luo C, Zhang Y, Zhang YS, Zhang MX, Ning J, Chen MF, Li Y, Qi L, Zu XB, Li YL, Cai Y
Orphanet J Rare Dis 2022 Jul 23;17(1):288. doi: 10.1186/s13023-022-02443-1. PMID: 35870981Free PMC Article
Bonino B, Leoncini G, De Cosmo S, Greco E, Russo GT, Giandalia A, Viazzi F, Pontremoli R
Medicina (Kaunas) 2019 Jul 16;55(7) doi: 10.3390/medicina55070382. PMID: 31315312Free PMC Article
Soliman NA, Nabhan MM, Abdelrahman SM, Abdelaziz H, Helmy R, Ghanim K, Bazaraa HM, Badr AM, Tolba OA, Kotb MA, Eweeda KM, Fayez A
Nephrol Ther 2017 May;13(3):176-182. Epub 2017 Feb 1 doi: 10.1016/j.nephro.2016.08.002. PMID: 28161266Free PMC Article

Recent clinical studies

Etiology

Antony D, Brunner HG, Schmidts M
Cells 2021 Jul 25;10(8) doi: 10.3390/cells10081885. PMID: 34440654Free PMC Article
Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K
Clin J Am Soc Nephrol 2016 Aug 8;11(8):1441-1449. Epub 2016 Jun 8 doi: 10.2215/CJN.01000116. PMID: 27281700Free PMC Article
Rangan GK, Lopez-Vargas P, Nankivell BJ, Tchan M, Tong A, Tunnicliffe DJ, Savige J
Semin Nephrol 2015 Nov;35(6):524-37. doi: 10.1016/j.semnephrol.2015.10.002. PMID: 26718155

Diagnosis

Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515
Wémeau JL, Kopp P
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):213-224. Epub 2017 May 10 doi: 10.1016/j.beem.2017.04.011. PMID: 28648509
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K
Clin J Am Soc Nephrol 2016 Aug 8;11(8):1441-1449. Epub 2016 Jun 8 doi: 10.2215/CJN.01000116. PMID: 27281700Free PMC Article
Rangan GK, Lopez-Vargas P, Nankivell BJ, Tchan M, Tong A, Tunnicliffe DJ, Savige J
Semin Nephrol 2015 Nov;35(6):524-37. doi: 10.1016/j.semnephrol.2015.10.002. PMID: 26718155

Therapy

Bonino B, Leoncini G, De Cosmo S, Greco E, Russo GT, Giandalia A, Viazzi F, Pontremoli R
Medicina (Kaunas) 2019 Jul 16;55(7) doi: 10.3390/medicina55070382. PMID: 31315312Free PMC Article
Reutter H, Hilger AC, Hildebrandt F, Ludwig M
Pediatr Nephrol 2016 Nov;31(11):2025-33. Epub 2016 Feb 8 doi: 10.1007/s00467-016-3335-3. PMID: 26857713Free PMC Article
Chemouny JM, Hurtado-Nedelec M, Flament H, Ben Mkaddem S, Daugas E, Vrtovsnik F, Berthelot L, Monteiro RC
Nephrol Dial Transplant 2016 Aug;31(8):1235-42. Epub 2015 Sep 26 doi: 10.1093/ndt/gfv335. PMID: 26410885
Rangan GK, Lopez-Vargas P, Nankivell BJ, Tchan M, Tong A, Tunnicliffe DJ, Savige J
Semin Nephrol 2015 Nov;35(6):524-37. doi: 10.1016/j.semnephrol.2015.10.002. PMID: 26718155
López-Novoa JM, Martínez-Salgado C, Rodríguez-Peña AB, López-Hernández FJ
Pharmacol Ther 2010 Oct;128(1):61-81. Epub 2010 Jun 19 doi: 10.1016/j.pharmthera.2010.05.006. PMID: 20600306

Prognosis

Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM Jr, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR
Prenat Diagn 2024 Feb;44(2):237-246. Epub 2023 Aug 26 doi: 10.1002/pd.6424. PMID: 37632214
Wang Z, Sun Z, Diao Y, Wang Z, Yang X, Jiang B, Wu Y, Liu G
Orphanet J Rare Dis 2023 Aug 29;18(1):250. doi: 10.1186/s13023-023-02874-4. PMID: 37644569Free PMC Article
Harita Y, Urae S, Akashio R, Isojima T, Miura K, Yamada T, Yamamoto K, Miyasaka Y, Furuyama M, Takemura T, Gotoh Y, Takizawa H, Tamagaki K, Ozawa A, Ashida A, Hattori M, Oka A, Kitanaka S
Eur J Hum Genet 2020 Oct;28(10):1414-1421. Epub 2020 May 26 doi: 10.1038/s41431-020-0655-3. PMID: 32457516Free PMC Article
Schildhorn C, Jacobi C, Weissbrodt A, Hermstedt C, Westhoff JH, Hömme M, Bhayadia R, Gretz N, Falk CS, Schmitt R, Bröcker V, Kränzlin B, Melk A
Mech Ageing Dev 2015 Sep;150:65-73. Epub 2015 Aug 12 doi: 10.1016/j.mad.2015.08.004. PMID: 26277387
Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA
Kidney Int 2006 Nov;70(10):1777-82. Epub 2006 Sep 27 doi: 10.1038/sj.ki.5001853. PMID: 17003820

Clinical prediction guides

Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515
Wémeau JL, Kopp P
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):213-224. Epub 2017 May 10 doi: 10.1016/j.beem.2017.04.011. PMID: 28648509
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Rangan GK, Lopez-Vargas P, Nankivell BJ, Tchan M, Tong A, Tunnicliffe DJ, Savige J
Semin Nephrol 2015 Nov;35(6):524-37. doi: 10.1016/j.semnephrol.2015.10.002. PMID: 26718155
Schildhorn C, Jacobi C, Weissbrodt A, Hermstedt C, Westhoff JH, Hömme M, Bhayadia R, Gretz N, Falk CS, Schmitt R, Bröcker V, Kränzlin B, Melk A
Mech Ageing Dev 2015 Sep;150:65-73. Epub 2015 Aug 12 doi: 10.1016/j.mad.2015.08.004. PMID: 26277387

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