Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

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BAYRAMOĞLU E., Keskin M., Aycan Z., Savas-Erdeve S., Cetinkaya S.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.13, sa.3, ss.300-307, 2021 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.4274/jcrpe.galenos.2021.2020.0192
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.300-307
  • Anahtar Kelimeler: Hypomagnesemia, hypocalsemia, TRPM6 mutation, TRPM6, MUTATIONS, GENE, MG2+, TRANSPORT
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Objective: Familial hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disease caused by a mutation in the transient receptor potential melastatin 6 (TRPM6) gene and is characterized by selective magnesium malabsorption. Affected cases are usually diagnosed during infancy and usually present with seizures due to hypocalcemia and hypomagnesemia. Irreversible neurological deficits and arrhythmias can be observed without appropriate treatment. The aim was to evaluate the long-term follow-up of patients with genetically confirmed HSH.