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Hypophosphataemic Rickets: Similar Phenotype of Different Diseases

Francisco de la Cerda-Ojeda1, Juan D González-Rodríguez2, Leire Madariaga3

  • 1Sección de Nefrología Pediátrica, Hospital Infantil Universitario Virgen del Rocío, Sevilla, Spain.

Advances in Therapy
|April 3, 2020
PubMed

Insights

Hypophosphataemic rickets (HR) involves excessive phosphate loss, often linked to FGF23. Early diagnosis and genetic testing are crucial for managing childhood growth and bone development challenges.

Area of Science:

  • Pediatric Endocrinology
  • Rare Genetic Disorders
  • Mineral Metabolism

Background:

  • Hypophosphataemic rickets (HR) is a rare group of disorders characterized by renal phosphate wasting.
  • Fibroblast growth factor 23 (FGF23) plays a significant role in the pathogenesis of HR.
  • HR significantly impacts childhood growth, bone development, and can lead to fractures, poor bone healing, dental issues, and kidney complications.

Purpose of the Study:

  • To review the clinical features of Hypophosphataemic rickets.
  • To emphasize the differential diagnosis of HR.
  • To discuss the therapeutic implications for managing HR.

Main Methods:

  • Literature review of clinical features, diagnosis, and treatment of HR.
  • Analysis of the role of FGF23 in HR pathogenesis and diagnosis.
  • Discussion of diagnostic challenges and genetic testing recommendations.

Main Results:

  • Diagnostic delays in HR can be prolonged.
  • Laboratory findings and thorough patient history are key for distinguishing HR from other conditions.
  • FGF23 levels, while not routinely measured, are important for differential diagnosis.

Conclusions:

  • Genetic testing is recommended, particularly for sporadic or insidious cases of HR.
  • Accurate diagnosis is essential for appropriate management and to mitigate long-term complications.
  • Understanding the clinical features and diagnostic nuances is critical for effective therapeutic strategies in HR.

Keywords:
Cutaneous skeletal hypophosphataemia syndromeDifferential diagnosisHypophosphataemic ricketsMcCune–Albright syndromeOncogenic osteomalaciaOrthopaedics

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