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

GÜLER M. A., YÜCE KAHRAMAN Ç.

TURKISH JOURNAL OF NEPHROLOGY, cilt.32, sa.1, ss.63-72, 2023 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.5152/turkjnephrol.2023.21161242
  • Dergi Adı: TURKISH JOURNAL OF NEPHROLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.63-72
  • Anahtar Kelimeler: A novel CLDN16 gene mutation, chronic kidney disease, hypercalciuria, hypomagnesemia, medullary nephrocalcinosis, GENE MUTATION, PARACELLIN-1
  • Atatürk Üniversitesi Adresli: Evet

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.