Makale
Tam Makale
Uluslararası
2023
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
TURKISH JOURNAL OF NEPHROLOGY
Cilt 32 · Sayı 1 · ss. 63–72 · 01.01.2023
Özet
Objective: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare disease characterized by the kidney loss of magnesium and calcium and by bilateral medullary nephrocalcinosis. It is caused by mutations in the CLDN16 and CLDN19 genes. In this study, we aimed to present the clinical and laboratory findings of 5 patients with 2 different pathogenic variations.
Anahtar kelimeler
chronic kidney disease
hypercalciuria
A novel CLDN16 gene mutation
hypomagnesemia
medullary nephrocalcinosis
GENE MUTATION
PARACELLIN-1
Atıf için künye
GÜLER, M. A., & Yüce Kahraman, Ç. (2023). 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. TURKISH JOURNAL OF NEPHROLOGY, 32(1), 63–72. https://doi.org/10.5152/turkjnephrol.2023.21161242
BibTeX
@article{guler2023-241673,
author = {GÜLER, Muhammet Akif and Yüce Kahraman, Çiğdem},
title = {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},
journal = {TURKISH JOURNAL OF NEPHROLOGY},
year = {2023},
volume = {32},
number = {1},
pages = {63--72},
issn = {2667-4440},
doi = {10.5152/turkjnephrol.2023.21161242},
url = {https://akademik.atauni.edu.tr/yayinlar/241673-evaluation-of-phenotypes-and-cldn16-variants-in-2-different-familial}
}