Mme Docteur FAUSTINE KRAJEWSKI

Bibliographie

• Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years

  2024

  ArticleRMD Open : Rheumatic & Musculoskeletal Diseases

• Maintien thérapeutique d’un second anti-TNF alpha dans les spondyloarthrites : étude multicentrique en situation réelle

  2020

  ArticleRevue du Rhumatisme

• Drug maintenance of a second tumor necrosis factor alpha inhibitor in spondyloarthritis patients: A real-life multicenter study

  2019

  ArticleJoint Bone Spine

Source : HAL — archive ouverte CCSD/CNRS (couvre articles, chapitres EMC, communications congrès, thèses).

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Top publications · les plus citées

• 1

  Drug maintenance of a second tumor necrosis factor alpha inhibitor in spondyloarthritis patients: A real-life multicenter study

  Joint bone spine · 2019

  📚 7 citations🩺 Clinique🔓 Open Access📄 PDF gratuit ↗
• 2

  Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years

  RMD open · 2024

  📚 6 citations🎯 RCR 2.47Top 21% NIH🔓 Open Access📄 PDF gratuit ↗

  Lire l'abstract Crossref ↓

  Introduction Hypophosphatasia (HPP) is a rare genetic disease caused by loss-of-function mutations in the ALPL gene encoding the tissue non-specific alkaline phosphatase (ALP). Mild HPP is usually misdiagnosed in adult age. While an elevated serum ALP value draws more attention than a low value, low serum ALP should be better recognised and may lead to HPP detection. Methods Patients were selected from the records of the biochemistry department of six University Hospitals in France. Patients were hospitalised in the departments of rheumatology and internal medicine between 2007 and 2017. Results 56 321 hospitalised patients had at least 2 serum ALP dosages and 664 of these patients had at least 2 low serum ALP≤35 UI/L. Among these 664 patients, 482 (72.6%) had fluctuating low values (mean age 62.9 years; 60% of women) and 182 patients (27.4%) had persistent low values below 35 IU/L (mean age 53.4 years; 67% of women). Among patients with persistent hypophosphatasaemia treated with bisphosphonates, 70.8% never had ALP measurement before treatment and 20.8% were treated despite an abnormal decrease of ALP. Genetic testing was performed in 18 patients and was positive in 11. Genetic diagnosis of HPP was at least 6.0% in persistent hypophosphatasaemia and at least 15.9% in patients with at least three symptoms suggestive of HPP. Conclusion In this 10-year retrospective study, 0.32% of adult patients hospitalised in the rheumatology and internal medicine departments had persistently low serum ALP, and among them, 6% had genetically proven HPP. Reported hypophosphatasaemia represented only 3.6% of hospitalised patients.

Publications scientifiques (2) — classées par pathologie

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