ArticleJCEM case reports2023
Genu Valgum, Fractures, and Renal Stones in a 10-year-old Girl.
Article in JCEM case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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.
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1 citing paper in PubMed, 1 citations in OpenAlex.
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2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rickets is a disorder of impaired bone mineralization that can arise from nutritional deficiencies and inherited conditions. We describe a 10-year-old girl presenting with genu valgum and a history of renal stones due to hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a rare inherited form of rickets characterized by high 1,25 vitamin D levels, hypophosphatemia with inappropriate renal phosphate wasting, and hypercalciuria. After the diagnosis was confirmed, she began treatment with phosphorus supplementation and stopped taking vitamin D, leading to improved bone mineral density and reduction in renal symptoms. Patients with HHRH can be distinguished from those with other forms of hypophosphatemic rickets by their high 1,25 vitamin D levels in conjunction with low to normal parathyroid hormone and fibroblast growth factor 23 (FGF23) levels. Genetic testing for
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