X-Linked Hypophosphatemia and FGF23-Related Hypophosphatemic Diseases: Prospect for New Treatment
نویسندگان
چکیده
منابع مشابه
Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia.
BACKGROUND X-linked hypophosphatemia (XLH) is the most common heritable form of rickets and osteomalacia. XLH-associated mutations in phosphate-regulating endopeptidase (PHEX) result in elevated serum FGF23, decreased renal phosphate reabsorption, and low serum concentrations of phosphate (inorganic phosphorus, Pi) and 1,25-dihydroxyvitamin D [1,25(OH)2D]. KRN23 is a human anti-FGF23 antibody d...
متن کاملX-linked hypophosphatemia with enthesopathy.
Pal R, Bhansali A. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220920 Description A 42-year-old man presented with lower limb bowing since childhood along with low backache and proximal muscle weakness for 8 years. He had strong family history of similar complaints in his elder brother, younger sister and daughter. Examination revealed loss of teeth and genu varum. Investigations showed corrected s...
متن کاملX-linked hypophosphatemia: dental and histologic findings.
The recurrent spontaneous formation of abscesses affecting multiple noncarious primary as well as permanent teeth is the principle clinical dental feature in cases of hypophosphatemia, a condition inherited through the X chromosome. Patients often have high pulp horns, large pulp chambers and dentinal clefts. We report a case of hypophosphatemic vitamin D-resistant rickets in a patient who repo...
متن کاملX-linked hypophosphatemic rickets: case report.
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 ...
متن کاملYALE CENTER FOR X-LINKED HYPOPHOSPHATEMIA Pilot & Feasibility Program A study of enthesopathy in X-linked hypophosphatemia
Dr. Macica states: “The formation of enthesophytes was our focus, with a major emphasis on characterizing the cellular changes that occur in enthesophyte formation using the murine model of XLH, Hyp mice. We have found that mineralization, while thought to originate from bone, is actually due to both an expansion of fibrocartilage cells that express the FGFR3 receptor and an increase in alkalin...
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ژورنال
عنوان ژورنال: Endocrine Reviews
سال: 2018
ISSN: 0163-769X,1945-7189
DOI: 10.1210/er.2017-00220