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Hypocalcaemic and hypophosphatemic rickets.

A S Lambert1, A Linglart1

  • 1APHP, Department of Pediatric Endocrinology and Diabetology for Children, Bicêtre Paris-Sud, Le Kremlin-Bicêtre, France; APHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Filière OSCAR and Plateforme D'Expertise Maladies Rares Paris-Sud, Bicêtre Paris-Sud, Le Kremlin Bicêtre, France.

Best Practice & Research. Clinical Endocrinology & Metabolism
|August 9, 2018
PubMed
Summary
This summary is machine-generated.

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This review details rickets causes and treatments, covering genetic and nutritional types. It highlights advancements in molecular diagnostics and novel therapies like anti-FGF23 antibody for improved patient outcomes.

Area of Science:

  • Pediatric Endocrinology
  • Metabolic Bone Disease

Background:

  • Rickets is characterized by impaired bone mineralization at the growth plate, often linked to abnormal serum calcium or phosphate levels.
  • Key subtypes include hypophosphatemic rickets (vitamin D-resistant), vitamin D-dependent rickets, and nutritional rickets.

Purpose of the Study:

  • To review the diverse causes of genetic and nutritional rickets.
  • To outline current and emerging therapeutic strategies for rickets management.

Main Methods:

  • Literature review of rickets etiology and treatment modalities.
  • Discussion of diagnostic approaches including clinical, biochemical, and radiological findings.
  • Inclusion of recent genetic advancements and novel therapeutic molecules.
Keywords:
FGF23childrenhypophosphatemic ricketsnutritional ricketsvitamin Dvitamin D-dependent rickets

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Main Results:

  • Rickets presents with bone deformities, pain, and growth impairment.
  • Accurate diagnosis, including molecular characterization for resistant forms, is crucial for effective therapy.
  • Novel treatments, such as anti-FGF23 antibodies, show promise.

Conclusions:

  • Understanding the specific cause of rickets is paramount for timely and appropriate treatment.
  • Advances in genetics and molecular therapies are expanding treatment options for various rickets subtypes.