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 variants provides a definitive diagnosis.
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| http://dx.doi.org/10.1210/jcemcr/luac022 | DOI Listing |
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Article Synopsis
- This study examined the effectiveness of hemi-epiphysiodesis in treating adolescents with idiopathic genu varum and valgum, focusing on the impact of the distal femur and proximal tibia.
- Results showed that in the varus group, the proximal tibia contributed significantly to the deformity, while in the valgus group, both the distal femur and the proximal tibia played roles, with distal femur being more prominent.
- The findings highlight the need for tailored surgical planning based on the specific contributions of these bone areas to effectively address each condition.
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