Genetic Causes of Rickets

Acar S., DEMİR K., Shi Y.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.9, pp.88-105, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 9
  • Publication Date: 2017
  • Doi Number: 10.4274/jcrpe.2017.s008
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.88-105
  • Keywords: Rickets, hereditary, genetic, vitamin D dependent, hypophosphatemic rickets, D-DEPENDENT RICKETS, VITAMIN-D-RECEPTOR, LINKED HYPOPHOSPHATEMIC RICKETS, D-RESISTANT RICKETS, MOLECULAR-WEIGHT PROTEINURIA, D-3 1-ALPHA-HYDROXYLASE GENE, RENAL TUBULAR REABSORPTION, ANTI-FGF23 ANTIBODY KRN23, LIGAND-BINDING DOMAIN, GROWTH-FACTOR 23
  • Dokuz Eylül University Affiliated: Yes

Abstract

Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets) due to impairment in renal tubular phosphate reabsorption as a result of FGF23-related or FGF23-independent causes. In this review, we focus on clinical, laboratory and genetic characteristics of various types of hereditary rickets as well as differential diagnosis and treatment approaches.