ENFERMEDADES RENALES HEREDITARIAS - PUBLICACIONES DEL GRUPO

GENERAL

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC; Conference Participants.

Kidney Int. 2017 Oct;92(4):796-808. doi: 10.1016/j.kint.2017.06.018.

PMID:
 
28938953
 
Free Article

The expanding phenotypic spectra of kidney diseases: insights from genetic studies.

Stokman MF, Renkema KY, Giles RH, Schaefer F, Knoers NV, van Eerde AM.

Nat Rev Nephrol. 2016 Aug;12(8):472-83. doi: 10.1038/nrneph.2016.87. Epub 2016 Jul 4. Review.

Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.

Ars E, Torra R.

Clin Kidney J. 2017 Oct;10(5):586-593. doi: 10.1093/ckj/sfx051. Epub 2017 Jul 19.

PMID:
 
28980669
 
Free PMC Article

Next-generation sequencing for research and diagnostics in kidney disease.

Renkema KY, Stokman MF, Giles RH, Knoers NV.

Nat Rev Nephrol. 2014 Aug;10(8):433-44. doi: 10.1038/nrneph.2014.95. Epub 2014 Jun 10. Review.

POLIQUISTOSIS RENAL AUTOSÓMICA DOMINANTE

SÍNDROME DE ALPORT

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, Miner JH, Torra R, Ars E, Deltas C, Savva I, Perin L, Renieri A, Ariani F, Mari F, Baigent C, Judge P, Knebelman B, Heidet L, Lagas S, Blatt D, Ding J, Zhang Y, Gale DP, Prunotto M, Xue Y, Schachter AD, Morton LCG, Blem J, Huang M, Liu S, Vallee S, Renault D, Schifter J, Skelding J, Gear S, Friede T, Turner AN, Lennon R.

Nephrol Dial Transplant. 2017 Jun 1;32(6):916-924. doi: 10.1093/ndt/gfw095.

PMID:
 
27190345
 
Free PMC Article

Molecular genetics of familial hematuric diseases.

Deltas C, Pierides A, Voskarides K.

Nephrol Dial Transplant. 2013 Dec;28(12):2946-60. doi: 10.1093/ndt/gft253. Epub 2013 Sep 17. Review.


Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.

Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F.

J Am Soc Nephrol. 2013 Feb;24(3):364-75. doi: 10.1681/ASN.2012020148. Epub 2013 Jan 24. Review.

PMID:
 
23349312
 
Free Article


GESF

Genetic testing in steroid-resistant nephrotic syndrome: when and how?

Lovric S, Ashraf S, Tan W, Hildebrandt F.

Nephrol Dial Transplant. 2016 Nov;31(11):1802-1813. Epub 2015 Oct 27. Review.



CISTINOSIS

Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Cámez, Judit Carcía-Villoria, Enrique Lara, Pere Leyes, Nieves Martín-Begué, Manel Perelló, Guillem Pintos-Morell, Roser Torra, J. Vicens Torregrosa, Sandra Torres-Sierra, Anna Vila-Santandreu, Ana Güell y Grupo T-CiS.bcn. Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto. Nefrología 2016. 36(6):616-630.

ENFERMEDAD DE FABRY

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants.

Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18.

PMID:
 
27998644
 
Free Article



SÍNDROME HEMOLÍTICO URÉMICO ATÍPICO
Campistol JM, Arias M, Ariceta G, Blasco M, Espinosa L, Espinosa M, Grinyó JM, Macía M, Mendizábal S, Praga M, Román E, Torra R, Valdés F, Vilalta R, Rodríguez de Córdoba S. An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document. Nefrología 2015;35(5):421-47.


TUBULOPATÍAS
http://renaltube.com/es/


ESCLEROSIS TUBEROSA

Recommendations for imaging-based diagnosis and management of renal angiomyolipoma associated with tuberous sclerosis complex.

Buj Pradilla MJ, Martí Ballesté T, Torra R, Villacampa Aubá F.

Clin Kidney J. 2017 Dec;10(6):728-737. doi: 10.1093/ckj/sfx094. Epub 2017 Sep 11. Review.

PMID:
 
29225800
 
Free PMC Article

[Recommendations for the multidisciplinary management of tuberous sclerosis complex].

Macaya A, Torra R; en representación del Grupo Español Multidisciplinar de Expertos en Complejo Esclerosis Tuberosa (GEM-CET).

Med Clin (Barc). 2016 Sep 2;147(5):211-216.

Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study.

Kingswood JC, Bissler JJ, Budde K, Hulbert J, Guay-Woodford L, Sampson JR, Sauter M, Cox J, Patel U, Elmslie F, Anderson C, Zonnenberg BA.

Nephron. 2016;134(2):51-58. Epub 2016 Aug 10. Review.

PMID:
 
27504842
 
Free Article