NOVEL COMPOUND HETEROZYGOUS MUTATIONS OF CLDN16 GENE IN TWO SIBLINGS WITH NEPHROCALCINOSIS, HYPOMAGNESEMIA AND HYPERCALCIURIA

被引：0
|
作者：
Lamot, Lovro [1 ]
Jakopcic, Ivan [1 ]
Matkovic, Hana [1 ]
Kos, Ivanka [1 ]
Vrljicak, Kristina [1 ]
机构：
[1] Univ Zagreb, Sch Med, Univ Hosp Ctr Zagreb, Dept Pediat, Zagreb, Croatia
来源：
PEDIATRIC NEPHROLOGY | 2021年 / 36卷 / 10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：
PI-1
引用
收藏
页码：3309 / 3309
页数：1
相关论文
共 50 条
  • [21] Hypomagnesemia with Hypercalciuria Leading to Nephrocalcinosis, Amelogenesis Imperfecta, and Short Stature in a Child Carrying a Homozygous Deletion in the CLDN16 Gene
    Vanessa Radonsky
    Marina Malta Letro Kizys
    Renata Pires Dotto
    Priscila Ligeiro Gonçalves Esper
    Ita Pfeferman Heilberg
    Magnus Regios Dias-da-Silva
    Marise Lazaretti-Castro
    Calcified Tissue International, 2020, 107 : 403 - 408
  • [22] COLLECTIVE STUDY OF FAMILIAL HYPOMAGNESAEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS DUE TO CLDN16 MUTATIONS IN JAPAN
    Tanahashi, Yusuke
    Takahashi, Hironori
    Tajima, Toshihiro
    Azuma, Hiroshi
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 446 - 446
  • [23] Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations
    Sikora, Przemyslaw
    Zaniew, Marcin
    Haisch, Lea
    Pulcer, Barbara
    Szczepanska, Maria
    Moczulska, Anna
    Rogowska-Kalisz, Anna
    Bienias, Beata
    Tkaczyk, Marcin
    Ostalska-Nowicka, Danuta
    Zachwieja, Katarzyna
    Hyla-Klekot, Lidia
    Schlingmann, Karl Peter
    Konrad, Martin
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2015, 30 (04) : 636 - 644
  • [24] HEPATOBLASTOMA IN A CHILD WITH FAMILIAL HYPOMAGNESAEMIA, HYPERCALCIURIA AND NEPHROCALCINOSIS CAUSED BY MUTATION IN CLDN16 GENE
    Prikhodina, Larisa
    Lebedenkova, Marina
    Katysheva, Olga
    Nagel, Mato
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2015, 30
  • [25] Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC
    Tajima, T
    Nakae, J
    Fujieda, K
    PEDIATRIC NEPHROLOGY, 2003, 18 (12) : 1280 - 1282
  • [26] Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC
    Toshihiro Tajima
    Jun Nakae
    Kenji Fujieda
    Pediatric Nephrology, 2003, 18 : 1280 - 1282
  • [27] Evaluation of Phenotypes and CLDN16 Variants in 2 Different Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Families: Phenotypic Differences in Siblings and Phenotypic Similarity in Monozygotic Twins
    Guler, Muhammet Akif
    Kahraman, Cigdem Yuce
    TURKISH JOURNAL OF NEPHROLOGY, 2023, 32 (01): : 63 - 72
  • [28] Nephrolithiasis or nephrocalcinosis?-an uyghur adolescent with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutation
    Du, Y.
    Li, J.
    INTERNATIONAL JOURNAL OF UROLOGY, 2017, 24 : 147 - 148
  • [29] A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family
    Lv, Fang
    Xu, Xiao-jie
    Wang, Jian-yi
    Liu, Yi
    Jiang, Yan
    Wang, Ou
    Xia, Wei-bo
    Xing, Xiao-ping
    Li, Mei
    CLINICA CHIMICA ACTA, 2016, 457 : 69 - 74
  • [30] AUTOSOMAL RECESSIVE FAMILIAL HYPOMAGNESEMIA WITH HYPERCLCIURIA AND NEPHROCALCINOSIS (FHHNC) CAUSED BY MUTATION IN THE CLDN16 GENE IN GIRL
    Savenkova, Nadezhda
    Leviashvili, Zhanna
    Snezhkova, Elena
    Laptiev, Sergey
    PEDIATRIC NEPHROLOGY, 2022, 37 (11) : 2957 - 2957
12345