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Journals / Journal of Clinical Research in Pediatric Endocrinology / 2017 / Cilt: 9 - Sayı: 2

Genetic Causes of Rickets

Sezer ACAR
KORCAN DEMİR
Yufei SHİ
Pages
88–105
DOI
—
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⚡ TL;DR(Too Long; Didn't Read)

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

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data:Nutritional rickets remains a significant child health problem in developing countries.
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Conclusion & Impact: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
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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

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Genetic Causes of Rickets

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Cite This Article

ACAR, S., DEMİR, K., SHİ, Y. (2017). Genetic Causes of Rickets. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 9 - Sayı: 2, 88–105. https://ajindex.com/articles/270471

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