Evidence map›Paper›PMID 42865399›Full record

Observational studyFrontiers in endocrinology2026

Laboratory-based case finding using phosphate and alkaline phosphatase to identify genetic and nutritional rickets in children.

Beatriz Domínguez-Sevillano, Mary Alejandra Ferrín-Ferrín, David Cembrero-Fuciños, José Carlos Moyano-Maza, M Carla Criado-Muriel, Elena Marcos-Vadillo, Belén García-Berrocal, Pedro Gómez de Quero-Masía, Pablo Prieto-Matos, María Isidoro-García

Abstract readObservational Study
In one paragraph

Observational study in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Beatriz Domínguez-SevillanoServicio de Pediatría, Hospital Universitario de Salamanca, Salamanca, Spain.
Mary Alejandra Ferrín-FerrínServicio de Pediatría, Hospital Universitario de Salamanca, Salamanca, Spain.
David Cembrero-FuciñosServicio de Análisis Clínicos, Hospital Universitario de Salamanca, Salamanca, Spain.
José Carlos Moyano-MazaInstituto de Investigación Biomédica de Salamanca, Salamanca, Spain.
M Carla Criado-MurielServicio de Pediatría, Hospital Universitario de Salamanca, Salamanca, Spain.
Elena Marcos-VadilloInstituto de Investigación Biomédica de Salamanca, Salamanca, Spain.
Belén García-BerrocalInstituto de Investigación Biomédica de Salamanca, Salamanca, Spain.
Pedro Gómez de Quero-MasíaServicio de Pediatría, Hospital Universitario de Salamanca, Salamanca, Spain.
Pablo Prieto-Matos *Servicio de Pediatría, Hospital Universitario de Salamanca, Salamanca, Spain.
María Isidoro-García *Instituto de Investigación Biomédica de Salamanca, Salamanca, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Hypophosphatemic rickets is a rare disease characterized by renal phosphate loss, leading to chronic hypophosphatemia, elevated alkaline phosphatase, and skeletal symptoms that may remain unnoticed until advanced stages. Early diagnosis is essential because effective treatment is available to reduce complications. Objectives: To evaluate a laboratory-based case-finding strategy for identifying oligosymptomatic patients with hypophosphatemic rickets using phosphorus and alkaline phosphatase results in a pediatric population. Methods: A descriptive observational study was conducted in patients under 18 years of age at a tertiary care hospital between June 2021 and July 2025. Of 47,127 phosphorus or alkaline phosphatase measurements requested, 45,923 measurements corresponding to 28,045 tests from 12,513 patients were analyzed after exclusions. Test showing hypophosphatemia and/or elevated alkaline phosphatase were identified, and X-rays and clinical data were reviewed for classification. Results: A total of 22,860 phosphorus measurements and 23,063 alkaline phosphatase measurements were analyzed, with both parameters available in 17,878 laboratory tests. Hypophosphatemia was observed in 2,281 phosphorus measurements (9.98%), and elevated alkaline phosphatase in 3,301 measurements (14.3%). Fifty-five laboratory tests (0.31%) from 37 patients simultaneously met the criteria for hypophosphatemia (<-2 SD) and elevated alkaline phosphatase (>+2 SD); 56.8% were male, with a mean age of 6.5 ± 6.0 years. Following clinical review, 15 patients (40.5%) were classified as having a bone mineral metabolism disorder, including 10 with osteopenia of prematurity, three with nutritional rickets, one with a pathogenic variant in Conclusions: Laboratory-based case finding using phosphorus and alkaline phosphatase may help identify pediatric bone metabolism disorders, including forms of rickets. Combined hypophosphatemia and elevated alkaline phosphatase may be useful for guiding etiological investigation. This approach may complement clinical evaluation and facilitate earlier diagnosis. Early identification is clinically relevant because treatments can modify disease course and reduce long-term complications in children with confirmed forms of rickets, when appropriate.

Indexed as

Alkaline PhosphataseFamilial Hypophosphatemic RicketsPhosphatesRicketsRickets, HypophosphatemicAdolescentChildChild, PreschoolFemaleHumansInfantMalePhosphorusAlkaline PhosphatasePhosphatesPhosphorusalkaline phosphatasehypophosphatemiahypophosphatemic ricketsnutritional ricketsPHEXphosphate

Identifiers

PMID42865399
PMCPMC13654777

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.