Abnormalities in Muscle Density and Muscle Function in Hypophosphatemic Rickets

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Abnormalities 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...

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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...

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Dental abnormalities and oral health in patients with Hypophosphatemic rickets

INTRODUCTION Hypophosphatemic rickets represents a group of heritable renal disorders of phosphate characterized by hypophosphatemia, normal or low serum 1,25 (OH)2 vitamin D and calcium levels. Hypophosphatemia is associated to interglobular dentine and an enlarged pulp chambers. AIM Our goal was to verify the dental abnormalities and the oral health condition in these patients. MATERIAL A...

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Hypophosphatemic rickets and osteomalacia.

The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or ...

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Case in Point: Hypophosphatemic Rickets

The child had been born to a 19-year-old gravida 2, para 2 mother via cesarean birth secondary to malpresentation and fetal distress. The child weighed 3.06 kg at birth. She currently weighed 6 kg (5th percentile); she was 62 cm tall (5th to 25th percentile); head circumference, 46 cm (95th percentile or higher). Laboratory findings: calcium, 9.7 mg/dL; phosphorus, 2.8 mg/dL, immunoreactive par...

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ژورنال

عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism

سال: 2012

ISSN: 0021-972X,1945-7197

DOI: 10.1210/jc.2012-1336