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Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction
المؤلفون المشاركون
Colazo, J. M.
Reasoner, Seth A.
Holt, Ginger
Faugere, Marie C. M.
Dahir, Kathryn M.
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-07-09
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1146948
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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