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X-linked hypophosphatemic rickets: case report.

Vladimir Radlović, Zeljko Smoljanić, Nedeljko Radlović

    Srpski Arhiv Za Celokupno Lekarstvo
    |April 2, 2014
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    X-linked hypophosphatemic rickets (XLHR) is a genetic disorder affecting phosphate regulation. This case highlights a de novo PHEX gene mutation causing XLHR in a young girl, emphasizing genetic diagnosis importance.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Endocrinology

    Background:

    • X-linked hypophosphatemic rickets (XLHR) is an inherited disorder characterized by renal phosphate wasting and impaired vitamin D activation.
    • XLHR is caused by mutations in the PHEX gene, leading to characteristic skeletal deformities and growth issues.

    Observation:

    • A 2.2-year-old girl presented with severe rickets, short stature, and gait abnormalities.
    • Clinical and biochemical findings supported a diagnosis of hypophosphatemic rickets (HR) due to isolated hyperphosphaturia.
    • Treatment with phosphate and calcitriol led to biochemical normalization, radiographic improvement, and enhanced growth.

    Findings:

    • Genetic analysis identified a de novo mutation (c.1735G>A, p.G579R) in the PHEX gene, confirming XLHR.
    • Parental genetic analysis excluded inherited mutations, confirming the sporadic nature of this case.

    Implications:

    • Identifying genetic defects like PHEX mutations is crucial for accurate diagnosis and differential diagnosis of hereditary HR.
    • This case underscores the significance of genetic testing in pediatric rickets, especially when de novo mutations are suspected.