ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Genetic Causes of Rickets [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2017; 9(2): 88-105 | DOI: 10.4274/jcrpe.2017.S008

Genetic Causes of Rickets

Sezer Acar1, Korcan Demir1, Yufei Shi2
1Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
2King Faisal Specialist Hospital & Research Centre, Department of Genetics, Riyadh, Saudi Arabia

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.

Keywords: Rickets,hereditary,genetic,vitamin D dependent,hypophosphatemic rickets

Sezer Acar, Korcan Demir, Yufei Shi. Genetic Causes of Rickets. J Clin Res Pediatr Endocrinol. 2017; 9(2): 88-105
Manuscript Language: English
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