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Published on: June 23, 2015
Renal phosphate--wasting disorders in childhood
1Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, and Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada. ward_L@cheo.on.ca
Insights
This review summarizes recent advances in childhood renal phosphate-wasting disorders, focusing on X-linked hypophosphatemia (XLH) and autosomal dominant hypophosphatemic rickets (ADHR). It details their diagnosis and treatment, distinguishing them from oncogenic hypophosphatemic osteomalacia (OHO).
Area of Science:
- Pediatric Nephrology
- Endocrinology
- Genetics
Background:
- Renal phosphate-wasting disorders in children present diagnostic and therapeutic challenges.
- Hereditary conditions like X-linked hypophosphatemia (XLH) and autosomal dominant hypophosphatemic rickets (ADHR) require differentiation from acquired conditions such as oncogenic hypophosphatemic osteomalacia (OHO).
Purpose of the Study:
- To review recent developments in childhood renal phosphate-wasting disorders.
- To emphasize the distinctions between XLH, ADHR, and OHO.
- To provide an overview of clinical manifestations, pathogenesis, diagnosis, and treatment.
Main Methods:
- Literature review of recent scientific publications.
- Synthesis of information on genetic and hormonal signatures.
- Comparative analysis of XLH, ADHR, and OHO.
Main Results:
- Recent genetic and hormonal discoveries are refining the understanding of these disorders.
- Clearer diagnostic criteria are emerging for differentiating hereditary and paraneoplastic conditions.
- Updated treatment strategies are being developed based on new insights.
Conclusions:
- Accurate diagnosis of childhood hypophosphatemic disorders is crucial for effective management.
- Understanding genetic and hormonal pathways is key to advancing treatment for XLH, ADHR, and OHO.
- This review provides valuable information for clinicians managing these complex conditions.
Abstract:
The purpose of this review paper is to provide a summary of recent developments in the childhood disorders of renal phosphate-wasting, with particular emphasis on two of the hereditary conditions, X-linked hypophosphatemia (XLH) and autosomal dominant hypophosphatemic rickets (ADHR), as they are distinguished from the paraneoplastic syndrome, oncogenic hypophosphatemic osteomalacia (OHO). An overview of the clinical manifestations, pathogenesis, diagnosis, and treatment of these conditions, with attention to newly-discovered genetic and hormonal signatures, will be discussed. The information may be invaluable in the complex diagnosis and successful treatment of OHO and hereditary hypophosphatemias of childhood.
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