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HYPOPHOSPHATEMIC RICKETS: CASE REPORT

Marta Liliane de Almeida Maia1, Ana Lucia Santos Abreu2, Paulo Cesar Koch Nogueira2

  • 1Hospital Infantil Darcy Vargas, São Paulo, SP, Brasil.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo
|April 5, 2018
PubMed

Insights

Early diagnosis and consistent follow-up are crucial for managing hypophosphatemic rickets. Prompt treatment can prevent severe complications, but neglecting follow-up can lead to significant health deterioration.

Area of Science:

  • Pediatrics
  • Endocrinology
  • Metabolic Bone Disease

Background:

  • Hypophosphatemic rickets requires prompt diagnosis and intervention to prevent long-term sequelae.
  • Pediatricians must maintain a high index of suspicion for this condition.

Observation:

  • A case of hypophosphatemic rickets in a patient with severe initial presentation, including dependence on mechanical ventilation.
  • Treatment involved phosphate, calcium, and calcitriol supplementation over 12 months.
  • Significant clinical and laboratory improvements were observed, including spontaneous breathing and ambulation.

Findings:

  • Treatment led to normalization of calcium, phosphate, magnesium, parathyroid hormone, and alkaline phosphatase levels.
  • Patient showed marked improvement in weight and structural development (Z-scores).
  • Despite initial recovery, a two-year lapse in follow-up resulted in noticeable health deterioration.

Implications:

  • Emphasizes the critical role of early diagnosis and sustained, regular follow-up in managing hypophosphatemic rickets.
  • Highlights the potential for severe relapse if treatment adherence and monitoring are compromised.
  • Underscores the need for comprehensive patient management strategies in metabolic bone diseases.
Abstract

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