Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets.

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چکیده

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Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets.

The pathogenesis of familial hypophosphatemic rickets (FHR) is incompletely understood. We therefore examined the effects of acute dietary phosphorus deprivation to see whether renal phosphate conservation and increased 1,25 dihydroxyvitamin D [1,25(OH)2D] plasma levels, which normally follow restriction of phosphorus intake, could be induced in patients with FHR. Six healthy male volunteers (a...

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Familial Hypophosphatemic Rickets: Pathophysiology and Medical Management

Chronic hypophosphatemia is one major cause of rickets and osteomalacia in growing children (see Preface of this volume). There are acquired and congenital forms. In most instances, the acquired forms can be controlled by acting on the underlying cause (insufficient phosphate intake, increased renal loss secondary to a mesenchymal tumor, or an altered renal tubular function). The inherited synd...

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Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets.

We report the development of severe tertiary hyperparathyroidism in three girls treated for familial hypophosphatemic rickets and characterize parathyroid function in vivo and in vitro. All patients had been previously treated with relatively large doses of inorganic phosphorus (125 mm/day) and ergocalciferol or calcitriol for several years and had radiographic evidence of long-standing hyperpa...

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Familial Hypophosphatemic Rickets - A Case Report and Review of Literature

Introduction Familial hypophosphatemic or X-linked hypophosphatemic (XLH) rickets is the most common form of non-nutritional rickets1. The prevalence of XLH rickets yet remain unknown in Bangladesh. It is an Xlinked dominant disorder characterized by renal phosphate wasting with consequent defect of bone mineralization1. Some form of the disease are observed to be transmitted which followed an ...

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Familial hypophosphatemic rickets causing ocular calcification and optic canal narrowing.

In a case of familial hypophosphatemic rickets, marked bone thickening caused narrowing of the optic canals, resulting in bilateral optic atrophy. The case also showed metastatic calcification in the walls of both globes.

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ژورنال

عنوان ژورنال: Journal of Clinical Investigation

سال: 1983

ISSN: 0021-9738

DOI: 10.1172/jci110912