ArticleCase reports in endocrinology2020
Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction.
Article in Case reports in endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Hereditary Hypophosphatemic Rickets with Hypercalciuria-Importance of Further Evaluation when Clinical Suspicion is StrongJournal of clinical research in pediatric endocrinology · 2026Article
- Kidney stone disease: risk factors, pathophysiology and management.Nature reviews. Nephrology · 2025Review
- Novel Variant ofJournal of clinical research in pediatric endocrinology · 2025Article
- UnusualJBMR plus · 2025Article
- An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).Kidney international · 2024Article
- Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.BMC pediatrics · 2024Article
- Utility of iliac crest tetracycline-labelled bone biopsy in osteoporosis and metabolic bone disease: An evaluation of 95 cases over a period of 25 years.Bone reports · 2023Article
- Growth hormone therapy in HHRH.Bone reports · 2022Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
We describe a case of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) in a 32-year-old female with short stature, chronic pathologic genu valgum deformity, and knee pain who was referred to endocrinology clinic after previous inconclusive workups. We present imaging spanning 10 years of untreated disease. Biochemical studies showed hypophosphatemia with undetectable fibroblast growth factor 23 (FGF23.) Renal ultrasound revealed bilateral medullary nephrocalcinosis despite no apparent hypercalciuria. Due to concern for HHRH, genetic testing was performed that determined this patient to be homozygous in the
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Registered trials
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