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Picture of the Month
Francis Mimouni, MD;
Zulf Mughal, MRCP;
Reginald C. Tsang, MBBS;
Murray Feingold, MD
Am J Dis Child. 1988;142(2):191-192.
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Denouement and Discussion
X-linked Dominant Hypophosphatemic Rickets
Manifestations
Hypophosphatemic rickets is characterized by a primary defect of the reabsorption of filtered phosphate in the kidney, leading to chronic urinary phosphate wastage. This condition is also characterized by an altered vitamin D metabolism; serum 1,25-dihydroxycholecalciferol concentrations are paradoxically "low" for the degree of hypophosphatemia. Defective mineral metabolism leads to impaired mineralization, affecting both epiphyseal cartilage and osteoid tissue at the endosteal bone surface. Lower limbs are clinically and radiologically more affected by the rachitic process than are upper limbs. In contrast to acquired tumor-induced hypophosphatemic rickets, there is no proximal myopathy. Craniosynostoses have been described as complications of the disease but may be precipitated by treatment with 1,25-dihydroxycholecalciferol.
Dentin defects (interglobular dentin) lead to a mottled appearance of the tooth surface. Dental abscesses that are not associated with caries or trauma are frequent complications. As a consequence of abnormal dentin formation, large, tubular
. . . [Full Text PDF of this Article]
Author Affiliations
Contributed from Children's Hospital Medical Center, Cincinnati, and the University of Cincinnati College of Medicine.
Footnotes
Accepted for publication July 20, 1987.
Reprint requests to National Birth Defects Center, Kennedy Memorial Hospital, 30 Warren St, Brighton, MA 02135 (Dr Feingold).
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