Genetic Causes of Rickets
نویسندگان
چکیده
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.
منابع مشابه
Survey of Patients with Different Types of Rickets in Fars Province
ABSTRACT There are different causes for rickets. Vitamin D deficiency, disorder in vitamin D metabolism and action, familial x.linked hypophosphatemia, renal failure, hepatic disease & oncogenous rickets are some of the major causes of rickets. In this research we had the opportunity to study 50 cases of rickets during one year period in shiraz. The results showed that vitamin D deficiency wa...
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