Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction

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...

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Bibliographic Details
Published in:Case reports in endocrinology 2020, Vol.2020 (2020), p.1-7
Main Authors: Faugere, Marie C. M., Holt, Ginger, Reasoner, Seth A., Colazo, J. M., Dahir, Kathryn M.
Format: Article
Language:English
Subjects:
Age
Biopsy
Bone diseases
Bursitis
Case Report
Case reports
Family medical history
Females
Fibroblast growth factors
Fibroblasts
Fractures
Genetic screening
Genotype & phenotype
Growth factors
Laboratories
Medical research
Medicine, Experimental
Metabolism
Oxytetracycline
Pain
Patients
Phosphates
Phosphorus
Rickets
Surgery
Tetracycline
Tetracyclines
Urine
Vitamin D
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Summary: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 SLC34A3 gene for a previously described missense variant (c.1402C > T, p.Arg468Trp). There was no known family history of rickets. A bone biopsy with metabolic studies was performed for diagnostic and prognostic reasons. The histopathological findings along with tetracycline uptake studies were consistent with a diagnosis of HHRH. Treatment with phosphorous supplementation and surgical correction of her valgum deformity resulted in resolution of pain, but no change in bone histomorphometry.
ISSN:2090-6501
2090-651X
DOI:10.1155/2020/1047327