ArticleCureus2025
Hypophosphatasia: Clinical Clues and Management Considerations.
Article in Cureus, 2025. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This case report identifies typical manifestations of a patient with hypophosphatasia, a rare genetic condition in which mutations in tissue-non-specific alkaline phosphatase (TNSALP) enzymes cause low levels of alkaline phosphatase and defective bone mineralization. It explores common diagnostic clues from the history and laboratory evaluation, which can help clinicians identify the disorder. This case introduces a 49-year-old patient with a long history of fractures and dental abnormalities who was referred to endocrinology for evaluation of osteopenia. Further review of her laboratory data was noteworthy for a low level of alkaline phosphatase. Additionally, a low vitamin B6 level was measured, and genetic testing was ultimately diagnostic for hypophosphatasia. The patient was started on the anabolic agent teriparatide but was lost to subsequent follow-up. This case discusses additional management considerations, which are currently limited but continue to evolve, and cautions against bisphosphonate use in the setting of hypophosphatasia.
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