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Hypophosphatemic rickets in children: current knowledge and a proposal for a diagnostic algorithm

Dorota Roztoczyńska1, Jerzy Starzyk2

  • 1Department of Pediatric Endocrinology, Chair of Pediatrics, Jagiellonian University Medical College, Krakow, Poland. dorota.roztoczynska@uj.edu.pl.

Endokrynologia Polska
|August 24, 2026
PubMed

Insights

Hypophosphatemic rickets (HR) are bone disorders affecting children, with various genetic and acquired causes. Early diagnosis and a multidisciplinary approach are key for managing skeletal complications and improving quality of life.

Area of Science:

  • Pediatric Endocrinology
  • Skeletal Dysplasias
  • Genetic Metabolic Disorders

Background:

  • Hypophosphatemic rickets (HR) encompass diverse disorders causing chronic hypophosphatemia and impaired bone mineralization.
  • These conditions lead to lifelong skeletal complications, affecting children and adults.
  • Genetic (e.g., XLH, autosomal forms) and acquired (e.g., tumor-induced osteomalacia) etiologies exist.

Purpose of the Study:

  • To review current knowledge on genetic and acquired forms of HR in children.
  • To present a diagnostic algorithm for early recognition and differentiation of HR subtypes.
  • To outline current and emerging therapeutic strategies.

Main Methods:

  • Comprehensive literature review of genetic and acquired hypophosphatemic rickets.
  • Analysis of clinical presentations, diagnostic criteria, and management strategies.
  • Development of a diagnostic algorithm for pediatric HR.

Main Results:

  • HR presents with limb deformities, growth retardation, bone pain, and dental issues.
  • Diagnosis involves medical history, physical exam, biochemical tests, imaging, and genetic testing.
  • Burosumab is highlighted for FGF23-mediated HR, with individualized plans for rare/independent forms.

Conclusions:

  • Early diagnosis and a multidisciplinary approach are crucial for optimizing outcomes in pediatric HR.
  • A proposed diagnostic algorithm aids in timely intervention and differentiation of HR subtypes.
  • Targeted therapies, like burosumab, show promise, necessitating individualized management plans.

Keywords:
FGF23X-linked hypophosphatemiabone mineralizationdiagnostic algorithmgenetic disordershypophosphatemic ricketspediatric endocrinologyphosphate wasting

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