X-linked hypophosphatemic rickets: Case report
نویسندگان
چکیده
منابع مشابه
X-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 کاملCinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review.
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...
متن کاملX-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.
Hypophosphatemic rickets is a rare form of rickets that affect children. The diagnosis requires high index of suspicion. We report a case of Hypophosphatemic rickets in 18-month-old Saudi boy presented with delayed walking and lower limb deformity. The diagnosis was confirmed by bone profile, radiological study and genetic testing, which reveled PHEX mutation. The patient was successfully treat...
متن کاملDental characteristics of hypophosphatemic rickets. Case report
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...
متن کاملThe muscle-bone relationship in X-linked hypophosphatemic rickets.
CONTEXT We recently found that patients with X-linked hypophosphatemic rickets (XLH) have a muscle function deficit in the lower extremities. As muscle force and bone mass are usually closely related, we hypothesized that patients with XLH could also have a bone mass deficit in the lower extremities. OBJECTIVE The study objective was to assess the muscle-bone relationship in the lower extremi...
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ژورنال
عنوان ژورنال: Srpski arhiv za celokupno lekarstvo
سال: 2014
ISSN: 0370-8179,2406-0895
DOI: 10.2298/sarh1402075r