ArticleJMA journal2025
High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the
Article in JMA journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Osteoglycin and Sclerostin Imbalance in Hypophosphatasia: Bone-Derived Markers of Mineralization and Systemic Involvement.International journal of molecular sciences · 2026Article
- Case series demonstrating the effectiveness of Zn supplements in adults with hypophosphatasia who were overlooked for a long time.SAGE open medical case reports · 2025Article
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Authors and funding
4 authors.
Funding
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Abstract
Introduction: Hypophosphatasia has been reported to develop nephrocalcinosis, renal stone, and chronic kidney failure. We investigated their renal impairments in the adults with hypophosphatasia to know the phenotype-genotype correlation. Methods: We subjected 11 patients with hypophosphatasia who were diagnosed by chance in the routine medical health checkup. Most cases had past history of fracture. Bone mineral density showed low or lower normal limit. Results: Four of six patients also had high levels of ionized Ca. In subjected six cases, four showed high urinary Ca excretion. Nephrocalcinosis is found in five cases even if the symptoms of hypophosphatasia are mild. Four out of five patients with a mutation of c.1559del in Conclusions: The phenotype-genotype correlation between renal impairment and c.1559del of
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