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Review
. 2017 Dec 30;9(Suppl 2):88-105.
doi: 10.4274/jcrpe.2017.S008. Epub 2017 Dec 27.

Genetic Causes of Rickets

Sezer Acar  1 , Korcan Demir  1 , Yufei Shi  2
Affiliations
Review

Genetic Causes of Rickets

Sezer Acar et al. J Clin Res Pediatr Endocrinol. .

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.

Keywords: Rickets; genetic; hereditary; vitamin D dependent hypophosphatemic rickets..

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Conflict of interest statement

Financial Disclosure: The study is supported by a KACST grant #P-L-10-0051.

Figures

Figure 1
Figure 1. Near-total and partial alopecia in two children with VDDR2A (From the archives of Division of Pediatric Endocrinology, Dokuz Eylül University)
See this image and copyright information in PMC

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