Renal involvement and functional impact in the pediatric age of a cohort of patients with tuberous sclerosis complex (TSC) and contiguous gene syndrome (CGS)

被引：0
|
作者：
Aguilar Rodriguez, Ana Cristina [1 ]
Arango Sancho, Pedro [1 ]
Lopez Espinoza, Jarima [1 ]
Lopez-Baez, Victor [1 ]
Jimenez Moreno, Marta [1 ]
Calzada Banos, Yolanda [1 ]
Fortes Marin, Emma [1 ]
Salvador Hernandez, Hector [2 ]
Ramos, Federico [3 ]
Madrid Aris, Alvaro [1 ]
机构：
[1] Hosp St Joan de Deu, Pediat Nephrol Serv, Barcelona, Spain
[2] Hosp St Joan de Deu, Pediat Canc Ctr Barcelona, Barcelona, Spain
[3] Hosp St Joan de Deu, Pediat Neurol Serv, Barcelona, Spain
来源：
PEDIATRIC NEPHROLOGY | 2024年 / 39卷 / 01期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
1101
引用
收藏
页码：S309 / S310
页数：2
相关论文
共 50 条
  • [41] Tuberous Sclerosis Complex (TSC)-Associated Renal Cell Carcinoma (RCC): A Clinicopathologic Study of 27 Tumors in 15 Patients
    Guo, J.
    Tretiakova, M. S.
    Troxell, M. L.
    Osunkoya, A. O.
    Fadare, O.
    Sangoi, A. R.
    Shen, S.
    Mehra, R.
    Heider, A.
    Higgins, J. P.
    Lopez-Beltran, A.
    Przybycin, C.
    Magi-Galluzzi, C.
    McKenney, J. K.
    LABORATORY INVESTIGATION, 2014, 94 : 233A - 233A
  • [42] Case report: Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome case originated by atypical non-contiguous PDK1/TSC2 deletions
    Ventayol-Guirado, Marc
    Torres-Juan, Laura
    Asensio-Landa, Victor
    Martorell, Rosa
    Perez Granero, Angeles
    Isabel Madrid, Maria
    Hernandez, Jessica
    Lumbreras, Javier
    Roldan, Jordi
    Pons, Monserrat
    Martinez, Iciar
    Heine Suner, Damian
    Santos, Fernando
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 127 - 128
  • [43] End-stage renal disease in tuberous sclerosis complex-polycystic kidney disease contiguous gene syndrome: epidemiology, clinical manifestations and implications for transplantation
    Cynthia C. Lim
    Huizhuan Tan
    Sobhana Thangaraju
    Angeline H. M. Lai
    Marjorie W. Y. Foo
    International Urology and Nephrology, 2014, 46 : 1869 - 1870
  • [44] End-stage renal disease in tuberous sclerosis complex-polycystic kidney disease contiguous gene syndrome: epidemiology, clinical manifestations and implications for transplantation
    Lim, Cynthia C.
    Tan, Huizhuan
    Thangaraju, Sobhana
    Lai, Angeline H. M.
    Foo, Marjorie W. Y.
    INTERNATIONAL UROLOGY AND NEPHROLOGY, 2014, 46 (09) : 1869 - 1870
  • [45] Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex
    Tsai, Jeng-Dau
    Wei, Chang-Ching
    Chen, Shan-Ming
    Lue, Ko-Huang
    Sheu, Ji-Nan
    INTERNATIONAL UROLOGY AND NEPHROLOGY, 2014, 46 (09) : 1685 - 1690
  • [46] Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex
    Jeng-Dau Tsai
    Chang-Ching Wei
    Shan-Ming Chen
    Ko-Huang Lue
    Ji-Nan Sheu
    International Urology and Nephrology, 2014, 46 : 1685 - 1690
  • [47] Impact of Mutation Status on Seizure Outcomes in Patients with Tuberous Sclerosis Complex (TSC) Treated in the EXIST-3 Study
    Yapici, Zuhal
    Franz, David
    Lawson, John
    Ikeda, Hiroko
    Polster, Tilman
    Nabbout, Rima
    Curatolo, Paolo
    de Vries, Petrus J.
    Dlugos, Dennis
    Mookerjee, Bijoyesh
    Fan, Jenna
    Ridolfi, Antonia
    Herbst, Fabian
    French, Jacqueline
    NEUROLOGY, 2018, 90
  • [48] Impact of Mutation Status on Seizure Outcomes in Patients with Tuberous Sclerosis Complex (TSC) Treated in the EXIST-3 Study
    Yapici, Z.
    Franz, D.
    Lawson, J.
    Ikeda, H.
    Nabbout, R.
    de Vries, P.
    Dlugos, D.
    Mookerjee, B.
    Fan, J.
    Jin, L.
    Ridolfi, A.
    Herbst, F.
    French, J.
    ANNALS OF NEUROLOGY, 2018, 84 : S337 - S337
  • [49] Tuberous sclerosis complex and early-onset autosomal dominant polycystic kidney disease as a 'contiguous gene' syndrome: Report of a case
    Mancino, C
    Balducci, A
    HEREDITARY KIDNEY DISEASES, 1997, 122 : 96 - 97
  • [50] A pediatric case of osteosarcoma and tuberous sclerosis complex with a novel germline mutation in the TSC2 gene and a somatic mutation in the TP53 gene
    Kuroda, Kaoru
    Moriya, Kunihiko
    Nakano, Tomohiro
    Saito, Ryoko
    Sato, Daichi
    Katayama, Saori
    Niizuma, Hidetaka
    Watanuki, Munenori
    Uematsu, Mitsugu
    Sasahara, Yoji
    Kure, Shigeo
    PEDIATRIC BLOOD & CANCER, 2021, 68 (06)
12345