Stephanie Christensen and Lindsey A Loomba
JCEM Case Reports, Volume 1, Issue 1, January 2023, luac022
https://doi.org/10.1210/jcemcr/luac022
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 SLC34A3 variants provides a definitive diagnosis.
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