Etiology
Veauthier B,
Miller MV
Am Fam Physician
2020 Sep 1;102(5):278-285.
PMID: 32866365
Brioude F,
Kalish JM,
Mussa A,
Foster AC,
Bliek J,
Ferrero GB,
Boonen SE,
Cole T,
Baker R,
Bertoletti M,
Cocchi G,
Coze C,
De Pellegrin M,
Hussain K,
Ibrahim A,
Kilby MD,
Krajewska-Walasek M,
Kratz CP,
Ladusans EJ,
Lapunzina P,
Le Bouc Y,
Maas SM,
Macdonald F,
Õunap K,
Peruzzi L,
Rossignol S,
Russo S,
Shipster C,
Skórka A,
Tatton-Brown K,
Tenorio J,
Tortora C,
Grønskov K,
Netchine I,
Hennekam RC,
Prawitt D,
Tümer Z,
Eggermann T,
Mackay DJG,
Riccio A,
Maher ER
Nat Rev Endocrinol
2018 Apr;14(4):229-249.
Epub 2018 Jan 29
doi: 10.1038/nrendo.2017.166.
PMID: 29377879Free PMC Article
Wheway G,
Schmidts M,
Mans DA,
Szymanska K,
Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free PMC Article
Tsuboi N,
Utsunomiya Y,
Hosoya T
Nephrol Dial Transplant
2013 Nov;28 Suppl 4:iv108-13.
Epub 2013 Jul 17
doi: 10.1093/ndt/gft258.
PMID: 23868145
Hall JE,
Granger JP,
do Carmo JM,
da Silva AA,
Dubinion J,
George E,
Hamza S,
Speed J,
Hall ME
Compr Physiol
2012 Oct;2(4):2393-442.
doi: 10.1002/cphy.c110058.
PMID: 23720252
Diagnosis
Veauthier B,
Miller MV
Am Fam Physician
2020 Sep 1;102(5):278-285.
PMID: 32866365
Ghata J,
Cowley BD Jr
Compr Physiol
2017 Jun 18;7(3):945-975.
doi: 10.1002/cphy.c160018.
PMID: 28640449
Curatolo P,
Maria BL
Handb Clin Neurol
2013;111:323-31.
doi: 10.1016/B978-0-444-52891-9.00038-5.
PMID: 23622183
Kambham N
Adv Anat Pathol
2012 Sep;19(5):338-47.
doi: 10.1097/PAP.0b013e31826663d9.
PMID: 22885383
Harris PC,
Torres VE
Annu Rev Med
2009;60:321-37.
doi: 10.1146/annurev.med.60.101707.125712.
PMID: 18947299Free PMC Article
Therapy
Veauthier B,
Miller MV
Am Fam Physician
2020 Sep 1;102(5):278-285.
PMID: 32866365
Ghata J,
Cowley BD Jr
Compr Physiol
2017 Jun 18;7(3):945-975.
doi: 10.1002/cphy.c160018.
PMID: 28640449
Lee VW,
Tunnicliffe DJ,
Rangan GK
Semin Nephrol
2015 Nov;35(6):595-602.e12.
doi: 10.1016/j.semnephrol.2015.10.011.
PMID: 26718164
Perazella MA,
Markowitz GS
Kidney Int
2008 Dec;74(11):1385-93.
Epub 2008 Aug 6
doi: 10.1038/ki.2008.356.
PMID: 18685574
Rosen S,
Galvanek E,
Levy M,
Habib R
Hum Pathol
1981 Nov;12(11):964-77.
doi: 10.1016/s0046-8177(81)80253-5.
PMID: 6459285
Prognosis
Veauthier B,
Miller MV
Am Fam Physician
2020 Sep 1;102(5):278-285.
PMID: 32866365
Kopp JB,
Anders HJ,
Susztak K,
Podestà MA,
Remuzzi G,
Hildebrandt F,
Romagnani P
Nat Rev Dis Primers
2020 Aug 13;6(1):68.
doi: 10.1038/s41572-020-0196-7.
PMID: 32792490Free PMC Article
Brioude F,
Kalish JM,
Mussa A,
Foster AC,
Bliek J,
Ferrero GB,
Boonen SE,
Cole T,
Baker R,
Bertoletti M,
Cocchi G,
Coze C,
De Pellegrin M,
Hussain K,
Ibrahim A,
Kilby MD,
Krajewska-Walasek M,
Kratz CP,
Ladusans EJ,
Lapunzina P,
Le Bouc Y,
Maas SM,
Macdonald F,
Õunap K,
Peruzzi L,
Rossignol S,
Russo S,
Shipster C,
Skórka A,
Tatton-Brown K,
Tenorio J,
Tortora C,
Grønskov K,
Netchine I,
Hennekam RC,
Prawitt D,
Tümer Z,
Eggermann T,
Mackay DJG,
Riccio A,
Maher ER
Nat Rev Endocrinol
2018 Apr;14(4):229-249.
Epub 2018 Jan 29
doi: 10.1038/nrendo.2017.166.
PMID: 29377879Free PMC Article
Rangan GK,
Alexander SI,
Campbell KL,
Dexter MA,
Lee VW,
Lopez-Vargas P,
Mai J,
Mallett A,
Patel C,
Patel M,
Tchan MC,
Tong A,
Tunnicliffe DJ,
Vladica P,
Savige J
Nephrology (Carlton)
2016 Aug;21(8):705-16.
doi: 10.1111/nep.12658.
PMID: 26511892
Loi M
Orphanet J Rare Dis
2006 May 18;1:16.
doi: 10.1186/1750-1172-1-16.
PMID: 16722554Free PMC Article
Clinical prediction guides
Furlano M,
Martínez V,
Pybus M,
Arce Y,
Crespí J,
Venegas MDP,
Bullich G,
Domingo A,
Ayasreh N,
Benito S,
Lorente L,
Ruíz P,
Gonzalez VL,
Arlandis R,
Cabello E,
Torres F,
Guirado L,
Ars E,
Torra R
Am J Kidney Dis
2021 Oct;78(4):560-570.e1.
Epub 2021 Apr 7
doi: 10.1053/j.ajkd.2021.02.326.
PMID: 33838161
Brioude F,
Kalish JM,
Mussa A,
Foster AC,
Bliek J,
Ferrero GB,
Boonen SE,
Cole T,
Baker R,
Bertoletti M,
Cocchi G,
Coze C,
De Pellegrin M,
Hussain K,
Ibrahim A,
Kilby MD,
Krajewska-Walasek M,
Kratz CP,
Ladusans EJ,
Lapunzina P,
Le Bouc Y,
Maas SM,
Macdonald F,
Õunap K,
Peruzzi L,
Rossignol S,
Russo S,
Shipster C,
Skórka A,
Tatton-Brown K,
Tenorio J,
Tortora C,
Grønskov K,
Netchine I,
Hennekam RC,
Prawitt D,
Tümer Z,
Eggermann T,
Mackay DJG,
Riccio A,
Maher ER
Nat Rev Endocrinol
2018 Apr;14(4):229-249.
Epub 2018 Jan 29
doi: 10.1038/nrendo.2017.166.
PMID: 29377879Free PMC Article
Rangan GK,
Alexander SI,
Campbell KL,
Dexter MA,
Lee VW,
Lopez-Vargas P,
Mai J,
Mallett A,
Patel C,
Patel M,
Tchan MC,
Tong A,
Tunnicliffe DJ,
Vladica P,
Savige J
Nephrology (Carlton)
2016 Aug;21(8):705-16.
doi: 10.1111/nep.12658.
PMID: 26511892
Wheway G,
Schmidts M,
Mans DA,
Szymanska K,
Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free PMC Article
Hall JE,
Granger JP,
do Carmo JM,
da Silva AA,
Dubinion J,
George E,
Hamza S,
Speed J,
Hall ME
Compr Physiol
2012 Oct;2(4):2393-442.
doi: 10.1002/cphy.c110058.
PMID: 23720252