Journal Watch
AD structural kidney disorders
How many surgically-treated angiomyolipomas are related to tuberous sclerosis complex? Insights from a retrospective multicenter study.
Author(s): Champy CM, Campi R, Grande P, de la Taille A, Méjean A, Granger B, Bitker MO, Roupret M Source: Minerva Urol Nefrol 2019 Oct 10; Publication date: 2019-10-10
Clinical and morphologic review of 60 hereditary renal tumors from 30 hereditary renal cell carcinoma syndrome patients: lessons from a contemporary single institution series.
Author(s): Kennedy JM, Wang X, Plouffe KR, Dhanasekaran SM, Hafez K, Palapattu GS, Else T, Weizer AZ, Morgan TM, Spratt DE, Davenport MS, Chinnaiyan AM, Udager AM, Mehra R Source: Med Oncol 2019 Jul 22;36(9):74 Publication date: 2019-07-22
UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.
Author(s): Yang J, Zhang Y, Zhou J Source: BMC Pediatr 2019 May 8;19(1):145 Publication date: 2019-05-8
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Author(s): Kitzler TM, Schneider R, Kohl S, Kolvenbach CM, Connaughton DM, Dai R, Mann N, Nakayama M, Majmundar AJ, Wu CW, Kari JA, El Desoky SM, Senguttuvan P, Bogdanovic R, Stajic N, Valivullah Z, Lek M, Mane S, Lifton RP, Tasic V, Shril S, Hildebrandt F Source: Hum Genet 2019 Jun 22; Publication date: 2019-06-22
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.
Author(s): Saffari A, Brösse I, Wiemer-Kruel A, Wilken B, Kreuzaler P, Hahn A, Bernhard MK, van Tilburg CM, Hoffmann GF, Gorenflo M, Hethey S, Kaiser O, Kölker S, Wagner R, Witt O, Merkenschlager A, Möckel A, Roser T, Schlump JU, Serfling A, Spiegler J, Milde T, Ziegler A, Syrbe S Source: Orphanet J Rare Dis 2019 May 3;14(1):96 Publication date: 2019-05-3
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.
Author(s): Auvin S, Bissler JJ, Cottin V, Fujimoto A, Hofbauer GFL, Jansen AC, Jóźwiak S, Kerecuk L, Kingswood JC, Moavero R, Torra R, Villanueva V Source: Orphanet J Rare Dis 2019 Apr 30;14(1):91 Publication date: 2019-04-30
Renal disease in tuberous sclerosis complex: pathogenesis and therapy.
Author(s): Lam HC, Siroky BJ, Henske EP Source: Nat Rev Nephrol 2018 Nov;14(11):704-716 Publication date: 2018-11
Tuberous sclerosis complex: new insights into clinical and therapeutic approach.
Author(s): Volpi A, Sala G, Lesma E, Labriola F, Righetti M, Alfano RM, Cozzolino M Source: J Nephrol 2018 Nov 7; Publication date: 2018-11-7
Mechanism of Fibrosis in HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease.
Author(s): Chan SC, Zhang Y, Shao A, Avdulov S, Herrera J, Aboudehen K, Pontoglio M, Igarashi P Source: J Am Soc Nephrol 2018 Aug 10; Publication date: 2018-08-10
Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2.
Author(s): Bissler JJ, Budde K, Sauter M, Franz DN, Zonnenberg BA, Frost MD, Belousova E, Berkowitz N, Ridolfi A, Christopher Kingswood J Source: Nephrol Dial Transplant 2018 Jul 19; Publication date: 2018-07-19
Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study.
Author(s): Janssens P, Van Hoeve K, De Waele L, De Rechter S, Claes KJ, Van de Perre E, Wissing KM, Bammens B, Jansen A, Mekahli D Source: Pediatr Nephrol 2018 Jul 9; Publication date: 2018-07-9
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.
Author(s): Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D' Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC Source: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association Publication date: 2018-04-25 |