Genetic Forms of Calciopenic Rickets

Donmez A. S., Türkyılmaz A., Cayir A.

Eurasian Journal of Medicine, vol.54, 2022 (ESCI) identifier identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 54
  • Publication Date: 2022
  • Doi Number: 10.5152/eurasianjmed.2022.22322
  • Journal Name: Eurasian Journal of Medicine
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Keywords: Vitamin D deficiency/diagnosis, mutation, rickets/genetics, VDR, CYP27B1, BONE-MINERAL DENSITY, D-RESISTANT RICKETS, MANAGEMENT, DISORDERS, CHILDREN, PREVENTION, MUTATIONS, PHENOTYPE, GENOTYPE, CYP27B1
  • Karadeniz Technical University Affiliated: Yes

Abstract

© 2022, AVES. All rights reserved.Rickets is a disease involving calcium and phosphate balance disturbances in the pediatric population. A series of hereditary disorders known as vitamin D-dependent rickets are defined as early-onset rickets resulting from either an insufficient response to active vitamin D or an inability to maintain adequate levels of the active forms of vitamin D. According to the age at onset and the pathophysiology of the disease, various clinical signs including growth failure, limb bowing, and joint enlargement may be present. Vitamin D-dependent rickets type 1A, type 1B, type 2A, type 2B, and type 3 are classified as genetic forms. Further studies are crucial for the development of targeted therapies and future mutation-specific therapies.