An Unusual Case of Cystic Kidney Disease in a Patient with CACNA1H Mutation and Hyperaldosteronism

被引:0
|
作者
Karingattil, Jerin [1 ]
Silverio, De Castro Yinelka G. [1 ]
Khatri, Minesh [1 ]
机构
[1] NYU Langone Hlth, Mineola, NY USA
来源
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2024年 / 35卷 / 10期
关键词
D O I
10.1681/ASN.2024bmq1pz35
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
SA-PO591
引用
收藏
页数:2
相关论文
共 50 条
  • [1] A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism
    Tseng, Chi-Shin
    Peng, Kang-Yung
    Wang, Shuo-Meng
    Tsai, Yao-Chou
    Huang, Kuo-How
    Lin, Wei-Chou
    Hu, Ya-Hui
    Wu, Vin-Cent
    Chueh, Jeff S.
    FRONTIERS IN ENDOCRINOLOGY, 2022, 13
  • [2] Somatic CACNA1H Mutation As a Cause of Aldosterone-Producing Adenoma
    Nanba, Kazutaka
    Blinder, Amy R.
    Rege, Juilee
    Hattangady, Namita G.
    Else, Tobias
    Liu, Chia-Jen
    Tomlins, Scott A.
    Vats, Pankaj
    Kumar-Sinha, Chandan
    Giordano, Thomas J.
    Rainey, William E.
    HYPERTENSION, 2020, 75 (03) : 645 - 649
  • [3] Expanding the Phenotype of CACNA1H Mutations
    Chourasia, N.
    Osso-Rivera, H.
    Von Allmen, G.
    Koenig, M.
    ANNALS OF NEUROLOGY, 2016, 80 : S325 - S327
  • [4] Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility
    Eckle, Veit-Simon
    Shcheglovitov, Aleksandr
    Vitko, Iuliia
    Dey, Deblina
    Yap, Chan Choo
    Winckler, Bettina
    Perez-Reyes, Edward
    JOURNAL OF PHYSIOLOGY-LONDON, 2014, 592 (04): : 795 - 809
  • [5] Oxycodone Behaviors in Cacna1h Knockout Mice
    Lynch, William B.
    Beierle, Jacob A.
    Cole, Rebecca H.
    Bhandari, Rhea
    Scotellaro, Julia L.
    Arslan, Ahmed
    Peltz, Gary
    Bryant, Camron D.
    NEUROPSYCHOPHARMACOLOGY, 2021, 46 (SUPPL 1) : 468 - 469
  • [6] CACNA1H variants are not a cause of monogenic epilepsy
    Calhoun, Jeffrey D.
    Huffman, Alexandra M.
    Bellinski, Irena
    Kinsley, Lisa
    Bachman, Elizabeth
    Gerard, Elizabeth
    Kearney, Jennifer A.
    Carvill, Gemma L.
    HUMAN MUTATION, 2020, 41 (06) : 1138 - 1144
  • [7] Expanding the Phenotypic Spectrum of CACNA1H Mutations
    Chourasia, Nitish
    Osso-Rivera, Henry
    Ghosh, Ankita
    Von Allmen, Gretchen
    Koenig, Mary Kay
    PEDIATRIC NEUROLOGY, 2019, 93 : 50 - 55
  • [8] CACNA1H mutations in autism spectrum disorders
    Splawski, Igor
    Yoo, Dana S.
    Stotz, Stephanie C.
    Cherry, Allison
    Clapham, David E.
    Keating, Mark T.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2006, 281 (31) : 22085 - 22091
  • [9] A NOVEL MUTATION OF M1630V IN CACNA1H IN IDIOPATHIC GENERALIZED EPILEPSIES
    Bai, D.
    Alonso, M. E.
    Martinez-Juarez, I. E.
    Bailey, J. N.
    Medina, M. T.
    Tanaka, M.
    Duron, R.
    Wang, M.
    Jara-Prado, A.
    Ochoa, A.
    Delgado-Escueta, A., V
    EPILEPSIA, 2013, 54 : 196 - 197
  • [10] Early Onset Hypertension with Primary Hyperaldosteronism through Mutation in the Calcium Channel CACNA1H-Case Report
    Dumitrescu, Cristina
    Chirita, Corina
    Procopiuc, Camelia
    Gherlan, Iuliana
    Olaru, Maria
    Lifton, Richard P.
    Nelson-Williams, Carol
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 137 - 137