SAT-076 Hypophosphatemic Rickets Secondary to Elemental Formula Use - Report on Two Cases
نویسندگان
چکیده
منابع مشابه
It is not always child abuse: multiple fractures due to hypophosphatemic rickets associated with elemental formula use
Rickets is not a disease of the past. We described a toddler who developed hypophosphatemic rickets associated with the use of elemental formula. This case highlights the importance of frequent monitoring of mineral metabolism in children receiving elemental formula and considering rickets in the workup of child abuse.
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INTRODUCTION X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. CASE OUTLINE A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and ...
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X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth. However, long-term administration of phosphate an...
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Hypophosphatemic rickets (HR), also known as refractory, vitamin D resistant rickets, is a hereditary disease linked to the X chromosome. It is characterized by the metabolic disturbance of calcium and phosphate, which causes defective calcifi cation of mineralized structures such as bones and teeth.1,2 It is the most common type of rickets found in developed countries. Its incidence can be cou...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2020
ISSN: 2472-1972
DOI: 10.1210/jendso/bvaa046.1804