Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

被引:0
|
作者
Satomi Higashi
Natsuki Matsunoshita
Masako Otani
Etsuro Tokuhiro
Kandai Nozu
Shuichi Ito
机构
[1] Yokosuka Kyosai Hospital,Department of Pediatrics
[2] Kobe University Graduate School of Medicine,Department of Pediatrics
[3] Yokohama City University Medical Center,Department of Pathology
[4] Fujisawa City Hospital,Department of Pediatrics
[5] Yokohama City University,Department of Pediatrics
[6] Graduate School of Medicine,undefined
来源
BMC Nephrology | / 18卷
关键词
Cystinosis; Juvenile; Fanconi syndrome; gene; Cysteamine;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report
    Higashi, Satomi
    Matsunoshita, Natsuki
    Otani, Masako
    Tokuhiro, Etsuro
    Nozu, Kandai
    Ito, Shuichi
    BMC NEPHROLOGY, 2017, 18
  • [2] Ventricular noncompaction in a female patient with nephropathic cystinosis: A case report
    Ahmed I.
    Phan T.T.
    Lipkin G.W.
    Frenneaux M.
    Journal of Medical Case Reports, 3 (1)
  • [3] NEPHROPATHIC CYSTINOSIS - A CASE-REPORT
    ALEXANDER, E
    AMERICAN FAMILY PHYSICIAN, 1991, 43 (05) : 1533 - &
  • [4] Therapeutic Problems and Pregnancy in a Patient With Infantile Nephropathic Cystinosis: A Case Report
    Kuczborska, K.
    Gozdowska, J.
    Lewandowska, D.
    Grenda, R.
    Galazka, Z.
    Nazarewski, S.
    Durlik, M.
    TRANSPLANTATION PROCEEDINGS, 2019, 51 (02) : 545 - 547
  • [5] Unrecognized juvenile nephropathic cystinosis
    Schiefer, Jan
    Zenker, Martin
    Groene, Hermann-Josef
    Chatzikyrkou, Christos
    Mertens, Peter Rene
    Liakopoulos, Vassilios
    KIDNEY INTERNATIONAL, 2018, 94 (05) : 1027 - 1027
  • [6] NEPHROPATHIC CYSTINOSIS IN A YOUNG ADULT - REPORT OF A CASE
    PITTMAN, G
    DEODHAR, S
    SCHULMAN, JD
    LANDO, JB
    LABORATORY INVESTIGATION, 1971, 24 (05) : 442 - &
  • [7] Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge
    Bobbity Deepthi
    Sriram Krishnamurthy
    Pediredla Karunakar
    Gowrishankar Barathidasan
    Thiagarajan Narayanasamy Rajavelu
    CEN Case Reports, 2022, 11 : 347 - 350
  • [8] Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge
    Deepthi, Bobbity
    Krishnamurthy, Sriram
    Karunakar, Pediredla
    Barathidasan, Gowrishankar
    Rajavelu, Thiagarajan Narayanasamy
    CEN CASE REPORTS, 2022, 11 (03) : 347 - 350
  • [9] Asymmetrical Ocular Manifestations of Nephropathic Cystinosis; A Case Report
    Helmi, Hata A.
    El Mansoury, Jeylan
    Al Hazzaa, Setwa
    Al Zoba, Abdulaziz
    Dirar, Qais S.
    AMERICAN JOURNAL OF CASE REPORTS, 2019, 20 : 1308 - 1313
  • [10] Perioperative care of the patient with nephropathic cystinosis
    Ray, TL
    Tobias, JD
    PEDIATRIC ANESTHESIA, 2004, 14 (10) : 878 - 885