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Inadequate pediatric reference ranges impede the diagnosis of X-linked hypophosphatemia and hypophosphatasia in

Jojo Steininger1,2, Magdalena Jablonska1,2, Susanne Sagmeister1,2

  • 1Department of Pediatric and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.

Wiener Klinische Wochenschrift
|May 19, 2025
PubMed

Insights

Most Austrian labs incorrectly identified abnormal pediatric lab results, potentially delaying diagnoses for rare diseases like X-linked hypophosphatemia (XLH) and hypophosphatasia (HPP). Standardized pediatric reference ranges are crucial for accurate diagnosis.

Area of Science:

  • Pediatric Laboratory Medicine
  • Clinical Chemistry
  • Rare Disease Diagnostics

Background:

  • Accurate diagnosis of pediatric disorders requires age-specific laboratory reference ranges.
  • Rare conditions like X-linked hypophosphatemia (XLH) and hypophosphatasia (HPP) depend on precise serum phosphate and alkaline phosphatase (ALP) measurements.
  • Current diagnostic practices may be hindered by the lack of standardized pediatric reference ranges.

Purpose of the Study:

  • To evaluate the utilization and accuracy of pediatric reference ranges in Austrian medical laboratories.
  • To assess the impact of non-standardized ranges on the diagnosis of pediatric conditions.
  • To identify deficiencies in laboratory practices concerning pediatric reference values.

Main Methods:

  • A list of extramural clinical laboratories in Austria was compiled.
  • Standardized serum samples with pathological pediatric values were sent to 26 laboratories.
  • Returned absolute and stated reference values were analyzed for accuracy and appropriateness.

Main Results:

  • Only 18.2% of responding laboratories used appropriate pediatric reference ranges for serum phosphate.
  • 40.9% of laboratories used appropriate pediatric reference ranges for ALP.
  • A significant majority of laboratories (54.5% for phosphate, 36.4% for ALP) incorrectly identified the pathological sample as normal.

Conclusions:

  • Despite accurate measurement capabilities, most laboratories failed to correctly interpret pediatric lab results using available reference ranges.
  • This failure can lead to diagnostic delays and missed diagnoses for critical pediatric conditions.
  • The study underscores the urgent need for regulatory standardization and mandatory implementation of pediatric reference ranges across Europe to enhance diagnostic accuracy for rare diseases.
Abstract

Keywords:
Diagnostic errorsHealth policyLaboratory diagnosticsPediatricsRare bone diseases

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