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Age- and sex-specific reference values for phosphate homeostasis parameters-fibroblast growth factor 23 and soluble Klotho.

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Rickets guidance: part I-diagnostic workup.

Dieter Haffner1,2, Maren Leifheit-Nestler3,4, Andrea Grund3,4

  • 1Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany. haffner.dieter@mh-hannover.de.

Pediatric Nephrology (Berlin, Germany)
|December 15, 2021
PubMed
Summary
This summary is machine-generated.

Rickets, a childhood disease affecting calcium and phosphate, causes bone deformities and growth failure. Early diagnosis and management are crucial for affected children.

Keywords:
Fibroblast growth factor 23Nutritional ricketsOsteomalaciaRicketsVitamin DVitamin D-dependent ricketsX-linked hypophosphatemia

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Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Rickets involves impaired chondrocyte apoptosis due to calcium and phosphate imbalances.
  • Symptoms vary but commonly include bone pain, growth failure, and skeletal deformities.

Purpose of the Study:

  • To review the etiology, pathophysiology, clinical findings, and diagnosis of rickets.
  • To outline management strategies and new therapeutic approaches for rickets.

Main Methods:

  • Clinical symptom assessment.
  • Radiological findings (X-rays) of growth plates.
  • Biochemical analyses (serum alkaline phosphatase).
  • Genetic testing for hereditary causes.

Main Results:

  • Nutritional deficiencies (Vitamin D, calcium) are common causes.
  • Over 20 acquired/hereditary causes exist, involving gene mutations (e.g., FGF23).
  • Diagnosis relies on clinical, radiological, and biochemical data.

Conclusions:

  • Accurate diagnosis requires thorough evaluation, including genetic tests for complex cases.
  • Effective management involves addressing underlying causes and following updated guidelines.