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
  • [31] Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants
    Heron, Sarah E.
    Khosravani, Houman
    Varela, Diego
    Bladen, Chris
    Williams, Tristiana C.
    Newman, Michelle R.
    Scheffer, Ingrid E.
    Berkovic, Samuel F.
    Mulley, John C.
    Zamponi, Gerald W.
    ANNALS OF NEUROLOGY, 2007, 62 (06) : 560 - 568
  • [32] The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study
    Wei, Zihan
    Liu, Chao
    Wu, Zhenyu
    Cao, Mi
    Qiao, Xiaozhi
    Han, Tenghui
    Zhang, Ying
    Liu, Yonghong
    Deng, Yanchun
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2021, 91 : 52 - 59
  • [33] CACNA1H MUTATIONS ARE ASSOCIATED WITH YOUNG ONSET AND FAMILIAL FORMS OF PRIMARY ALDOSTERONISM
    Daniil, G.
    Fernandes-Rosa, F. L.
    Chemin, J.
    Jeunemaitre, X.
    Polak, M.
    Boulkroun, S.
    Amar, L.
    Strom, T. M.
    Lory, P.
    Zennaro, M. C.
    JOURNAL OF HYPERTENSION, 2016, 34 : E39 - E39
  • [34] Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population
    Lv, Nan
    Qu, Jian
    Long, Hongyu
    Zhou, Luo
    Cao, Yuze
    Long, Lili
    Liu, Zhaoqian
    Xiao, Bo
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2015, 30 : 64 - 69
  • [35] Kidney rupture: An unusual and oligosymptomatic complication in a dialysis patient with acquired cystic disease
    Piccoli, GB
    Bermond, F
    Mezza, E
    La Saponara, F
    Quaglia, M
    Gai, M
    Anania, P
    Biancone, L
    Jeantet, A
    Ferrando, U
    Segoloni, GP
    JOURNAL OF NEPHROLOGY, 2002, 15 (04) : 394 - 397
  • [36] CACNA1H基因变异与神经系统疾病
    刘晓睿
    蒋莉
    癫痫杂志, 2022, 8 (02) : 146 - 150
  • [37] Inactivation of CACNA1H induces cell apoptosis by initiating endoplasmic reticulum stress in glioma
    Liu, Sheng
    Ba, Ying
    Li, Chenglong
    Xu, Guangming
    TRANSLATIONAL NEUROSCIENCE, 2023, 14 (01)
  • [38] Childhood absence epilepsy and T-type calcium channel gene CACNA1H
    Wu, XR
    Chen, YC
    Lu, JJ
    Zhang, YH
    Pan, H
    Wu, HS
    Xu, KM
    Shen, Y
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2005, 76 (04): : 602 - 602
  • [39] CACNA1H antibodies associated with headache with neurological deficits and cerebrospinal fluid lymphocytosis (HaNDL)
    Kurtuncu, Murat
    Kaya, Dilaver
    Zuliani, Luigi
    Erdag, Ece
    Icoz, Sema
    Ugurel, Elif
    Cavus, Filiz
    Aysit, Nese
    Birisik, Omer
    Vincent, Angela
    Eraksoy, Mefkure
    Vural, Burcak
    Akman-Demir, Gulsen
    Tuzun, Erdem
    CEPHALALGIA, 2013, 33 (02) : 123 - 129
  • [40] Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes
    Neven Maksemous
    Aster V. E. Harder
    Omar Ibrahim
    Lisanne S. Vijfhuizen
    Heidi Sutherland
    Nadine Pelzer
    Irene de Boer
    Gisela M. Terwindt
    Rodney A. Lea
    Arn M. J. M. van den Maagdenberg
    Lyn R. Griffiths
    Molecular Neurobiology, 2023, 60 : 3034 - 3043