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Genetic Causes of Rickets.

Sezer Acar1, Korcan Demir1, Yufei Shi2

  • 1Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey.

Journal of Clinical Research in Pediatric Endocrinology
|December 28, 2017
PubMed
Summary

Nutritional rickets affects children globally. This review details rare genetic rickets affecting vitamin D or phosphate metabolism, aiding diagnosis and treatment.

Keywords:
Ricketsgenetichereditaryvitamin D dependent hypophosphatemic rickets.

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Area of Science:

  • Pediatric Endocrinology
  • Metabolic Bone Diseases
  • Genetics

Background:

  • Rickets is a bone mineralization disorder impacting growing children.
  • Nutritional rickets is prevalent in developing nations.
  • Genetic factors also cause rickets, categorized by vitamin D metabolism or phosphate regulation issues.

Purpose of the Study:

  • To review the clinical, laboratory, and genetic features of hereditary rickets.
  • To discuss differential diagnoses for various rickets types.
  • To outline current treatment strategies for hereditary rickets.

Main Methods:

  • Literature review focusing on genetic rickets.
  • Analysis of clinical presentations and laboratory findings.
  • Synthesis of diagnostic criteria and therapeutic options.

Main Results:

  • Hereditary rickets includes disorders of vitamin D biosynthesis/action (e.g., VDDR1A, VDDR1B, VDDR2A, VDDR2B).
  • Other forms involve excessive renal phosphate loss (hereditary hypophosphatemic rickets) via FGF23-related or independent pathways.
  • Distinct genetic mutations correlate with specific clinical and biochemical profiles.

Conclusions:

  • Accurate diagnosis of hereditary rickets requires integrating clinical, genetic, and biochemical data.
  • Understanding genetic causes is crucial for targeted therapies.
  • Comprehensive management strategies improve patient outcomes for rare rickets types.