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Acquired hypophosphataemic vitamin D resistant rickets in black children
J M Pettifor1, F P Ross, M Quirk
1MRC Research Unit for Paediatric Mineral Metabolism, University of the Witwatersrand, Republic of South Africa.
Insights
This study presents five Black children with acquired hypophosphatemic vitamin D resistant rickets, showing muscle weakness and bone abnormalities. Treatment varied, highlighting the complex nature of this rare condition.
Area of Science:
- Pediatric Endocrinology
- Nutritional Rickets
- Mineral Metabolism
Background:
- Acquired hypophosphatemic vitamin D resistant rickets is a rare condition affecting children.
- Understanding its diverse etiologies and treatment responses is crucial for pediatric care.
Observation:
- Presents case histories of five Black children (4.5-9 years) with acquired hypophosphatemic vitamin D resistant rickets.
- Clinical presentation included significant muscle weakness; radiographic findings showed marked osteopenia and florid rickets.
- Biochemical profiles revealed normocalcemia, hypophosphatemia, and normal parathyroid hormone levels.
Findings:
- Three children had low 1,25-dihydroxyvitamin D concentrations.
- Treatment responses varied: one child improved without specific therapy.
- Three children required continuous 1 alpha-hydroxyvitamin D and oral phosphate; one needed only 1 alpha-hydroxyvitamin D.
Implications:
- The condition may represent a heterogeneous group, with some cases resembling oncogenous rickets and others having unknown etiologies.
- Further research into pathogenetic mechanisms is needed to refine classification and treatment strategies.
- Highlights the importance of individualized therapeutic approaches for acquired hypophosphatemic vitamin D resistant rickets.
Abstract:
The case histories of five black children aged between 4 1/2 and 9 years, with acquired hypophosphataemic vitamin D resistant rickets are presented. Muscle weakness was a striking feature clinically, while radiographically all had marked osteopenia in association with classical florid rickets. Biochemically, they were normocalcaemic and hypophosphataemic, with normal parathyroid hormone concentrations. In three of the children 1,25-dihydroxyvitamin D concentrations were low. One child responded to no specific therapy, while three required continuous 1 alpha-hydroxyvitamin D and oral phosphate supplementation, and the fifth 1 alpha-hydroxyvitamin D therapy alone before the clinical, biochemical and radiographic picture responded. The features in three of the children resemble oncogenous rickets, but the features of the other two do not fit any known aetiology. Although the group as a whole may be heterogeneous, until the pathogenetic mechanisms are determined, the authors believe they should be grouped together as acquired hypophosphataemic vitamin D resistant rickets.