Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction
Joint Authors
Colazo, J. M.
Reasoner, Seth A.
Holt, Ginger
Faugere, Marie C. M.
Dahir, Kathryn M.
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-07-09
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Colazo, J. M.& Reasoner, Seth A.& Holt, Ginger& Faugere, Marie C. M.& Dahir, Kathryn M.. 2020. Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction. Case Reports in Endocrinology،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1146948
Modern Language Association (MLA)
Colazo, J. M.…[et al.]. Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction. Case Reports in Endocrinology No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1146948
American Medical Association (AMA)
Colazo, J. M.& Reasoner, Seth A.& Holt, Ginger& Faugere, Marie C. M.& Dahir, Kathryn M.. Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction. Case Reports in Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1146948
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1146948