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X-linked hypophosphatemic rickets without "rickets".

M J Econs1, J R Feussner, G P Samsa

  • 1Department of Medicine, Duke University Medical Center, Durham, NC 27710.

Skeletal Radiology
|January 1, 1991
PubMed
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Radiographically apparent rickets is not always present in children with X-linked hypophosphatemia (XLH). Radiographs of wrists and knees show variable rickets, making it an unreliable diagnostic indicator for this genetic disorder.

Area of Science:

  • Pediatric Endocrinology
  • Skeletal Dysplasias
  • Medical Imaging

Background:

  • X-linked hypophosphatemia (XLH) is a genetic disorder characterized by impaired phosphate reabsorption, leading to rickets.
  • Radiographic evidence of rickets is a common diagnostic criterion for skeletal abnormalities.

Purpose of the Study:

  • To evaluate the consistency of radiographically apparent rickets in children with X-linked hypophosphatemia (XLH).
  • To determine if radiographic findings are a reliable diagnostic index for XLH.

Main Methods:

  • Analysis of wrist and knee radiographs from children with XLH.
  • Comparison with radiographs from normal children and children with other forms of rickets.
  • Assessment of the presence or absence of rachitic abnormalities.

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Main Results:

  • Radiographs correctly identified rickets in 94.8% of control subjects.
  • Only 5 of 11 wrist and 13 of 15 knee radiographs from XLH patients showed rachitic abnormalities.
  • Two XLH patients, aged 3.8 and 5.2 years, had no radiographic evidence of rickets, despite affected relatives.

Conclusions:

  • Radiographically detectable rickets is a variable finding in X-linked hypophosphatemia.
  • Radiographic assessment alone is not an unambiguous index for diagnosing XLH.
  • Further diagnostic approaches are necessary for consistent identification of XLH.