The Muscle-Bone Relationship in X-Linked Hypophosphatemic Rickets
نویسندگان
چکیده
منابع مشابه
The 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...
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 کاملTertiary hyperparathyroidism in a patient with X-linked hypophosphatemic rickets.
A 29-year-old female (Weight=50 kg, Height=152 cm, Body Mass Index= 21.6 Kg/m, target height: 151.5 cm) with symptomatic XLHR (X-linked Hypophosphatemic Rickets) since childhood was referred for evaluation of hypercalcemia. At the age of three years, during evaluation for growth retardation and features of rickets along with hypophosphatemia, she received the diagnosis of XLHR. Family history w...
متن کاملAbnormalities in muscle density and muscle function in hypophosphatemic rickets.
CONTEXT Animal studies suggest that hypophosphatemic rickets (HPR) is associated with muscle function deficits, but it is unknown whether humans with HPR have a muscle disorder. OBJECTIVE Our objective was to assess calf muscle size and density (an indicator of muscle quality) and lower extremity muscle function in patients with HPR. SETTING The study was carried out in the outpatient depar...
متن کاملPapilledema in the Setting of X-Linked Hypophosphatemic Rickets with Craniosynostosis
PURPOSE INTRODUCTION TO THE OPHTHALMIC LITERATURE OF AN UNUSUAL CAUSE OF PAPILLEDEMA AND SUBSEQUENT OPTIC ATROPHY: X-linked hypophosphatemic rickets (XLH). METHODS Case report of a 3-year-old female presenting with papilledema resulting from craniosynostosis secondary to XLH. RESULTS Early intervention with craniofacial surgery prevented the development of optic atrophy. CONCLUSION Childr...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2013
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2012-4146