A GENETIC MODIFIER OF MALARIA AND DISTAL RENAL TUBULAR ACIDOSIS: A CASE REPORT OF A PATIENT WITH A FILIPINO FOUNDER VARIANT IN SLC4A1

被引:0
|
作者
Tanudisastro, Hope [1 ,2 ,3 ]
Wang, Yuan Min [1 ,2 ]
Macarthur, Daniel [3 ]
Mallawaarachchi, Amali [3 ,4 ]
Mccarthy, Hugh [1 ,2 ]
Alexander, Si [1 ,2 ]
机构
[1] Childrens Hosp, Westmead, NSW, Australia
[2] Univ Sydney, Camperdown, NSW, Australia
[3] Garvan Inst Med Res, Darlinghurst, NSW, Australia
[4] Royal Prince Alfred Hosp, Camperdown, NSW, Australia
关键词
D O I
暂无
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
引用
收藏
页码:49 / 50
页数:2
相关论文
共 50 条
  • [11] A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation
    Koji Sakuraya
    Kandai Nozu
    Itsuhiro Oka
    Shuichiro Fujinaga
    China Nagano
    Yoshiyuki Ohtomo
    Kazumoto Iijima
    CEN Case Reports, 2020, 9 : 442 - 445
  • [12] A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation
    Sakuraya, Koji
    Nozu, Kandai
    Oka, Itsuhiro
    Fujinaga, Shuichiro
    Nagano, China
    Ohtomo, Yoshiyuki
    Iijima, Kazumoto
    CEN CASE REPORTS, 2020, 9 (04) : 442 - 445
  • [13] A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis
    Xue Tang
    Xia Guo
    Ju Gao
    The Indian Journal of Pediatrics, 2020, 87 : 233 - 234
  • [14] Identification of Two Novel Mutations in the SLC4A1 Gene in Two Unrelated Chinese Families with Distal Renal Tubular Acidosis
    Zhang, Zeng
    Liu, Kang-Xiang
    He, Jin-Wei
    Fu, Wen-Zhen
    Yue, Hua
    Zhang, Hao
    Zhang, Chang-Qing
    Zhang, Zhen-Lin
    ARCHIVES OF MEDICAL RESEARCH, 2012, 43 (04) : 298 - 304
  • [15] Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families
    Park, Eujin
    Phaymany, Vilaphone
    Yi, Eun Sang
    Phangmanixay, Sommanikhone
    Cheong, Hae Il
    Choi, Yong
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2018, 33 (13)
  • [16] Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis
    Deejai, Nipaporn
    Wisanuyotin, Suwannee
    Nettuwakul, Choochai
    Khositseth, Sookkasem
    Sawasdee, Nunghathai
    Saetai, Kiattichai
    Yenchitsomanus, Pa-thai
    Rungroj, Nanyawan
    LABORATORY MEDICINE, 2019, 50 (01) : 78 - 86
  • [17] Distal renal tubular acidosis in a patient with Hashimoto's thyroiditis: a case report
    Mhlana, Nontembiso
    Korf, Marizna
    Davids, Mogamat Razeen
    Chothia, Mogamat-Yazied
    BIOCHEMIA MEDICA, 2023, 33 (02)
  • [19] Distal renal tubular acidosis and ovalocytosis:: a case report
    Jamard, B.
    Allard, J.
    Caron, P.
    Corberand, J. X.
    Blanchard, A.
    Vargas-Poussou, R.
    El Mahou, S.
    Constantin, A.
    Cantagrel, A.
    Mazieres, B.
    Laroche, M.
    OSTEOPOROSIS INTERNATIONAL, 2008, 19 (01) : 119 - 122
  • [20] Distal renal tubular acidosis and ovalocytosis: a case report
    B. Jamard
    J. Allard
    P. Caron
    J. X. Corberand
    A. Blanchard
    R. Vargas-Poussou
    S. El Mahou
    A. Constantin
    A. Cantagrel
    B. Mazières
    M. Laroche
    Osteoporosis International, 2008, 19 : 119 - 122