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Growth and disease burden in children with hypophosphatasia.
Högler, Wolfgang; Linglart, Agnès; Petryk, Anna; Kishnani, Priya S; Seefried, Lothar; Fang, Shona; Rockman-Greenberg, Cheryl; Ozono, Keiichi; Dahir, Kathryn; Martos-Moreno, Gabriel Ángel.
Afiliación
  • Högler W; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
  • Linglart A; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
  • Petryk A; AP-HP, Hôpital Bicêtre Paris Saclay, service d'endocrinologie et diabète de l'enfant, DMU 3 SEA, centre de référence des maladies rares du métabolisme du calcium et du phosphate, filière OSCAR; Université de Paris-Saclay INSERM U1185, Hôpital Bicêtre, Le Kremlin-Bicêtre, France.
  • Kishnani PS; Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA.
  • Seefried L; Duke University Medical Center, Durham, North Carolina, USA.
  • Fang S; University of Würzburg, Würzburg, Germany.
  • Rockman-Greenberg C; Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA.
  • Ozono K; University of Manitoba, Winnipeg, Manitoba, Canada.
  • Dahir K; Osaka University, Suita, Osaka, Japan.
  • Martos-Moreno GÁ; Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Endocr Connect ; 12(5)2023 May 01.
Article en En | MEDLINE | ID: mdl-36917043
Objective: Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical manifestations of hypophosphatasia in children. Design: Data from children (aged <18 years) with hypophosphatasia were analyzed from the observational Global Hypophosphatasia Registry. Methods: Anthropometric parameters were evaluated by age group (<2 years and ≥2 years) at assessment. The frequency of hypophosphatasia manifestations was compared between children with short stature (< percentile) and those with normal stature. Results: This analysis included 215 children (54.4% girls). Short stature presented in 16.1% of children aged <2 years and 20.4% of those aged ≥2 years at assessment. Among those with available data (n = 62), height was below the target height (mean: -0.66 standard deviations). Substantial worsening of growth (mean delta height z score: -1.45; delta weight z score: -0.68) occurred before 2 years of age, while in those aged ≥2 years, anthropometric trajectories were maintained (delta height z score: 0.08; delta weight z score: 0.13). Broad-ranging hypophosphatasia manifestations (beyond dental) were observed in most children. Conclusions: Short stature was not a consistent characteristic of children with hypophosphatasia, but growth impairment was observed in those aged <2 years, indicating that hypophosphatasia might affect growth plate activity during infancy. In addition, a broad range of clinical manifestations occurred in those above and below the third percentile for height, suggesting that height alone may not accurately reflect hypophosphatasia disease burden and that weight is less affected than longitudinal growth.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Endocr Connect Año: 2023 Tipo del documento: Article País de afiliación: Austria Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Endocr Connect Año: 2023 Tipo del documento: Article País de afiliación: Austria Pais de publicación: Reino Unido