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Results for “HYPOPHOSPHATEMIA, FAMILIAL”

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PubMed1990

X-ray microanalysis of teeth from healthy patients and patients with familial hypophosphatemia.

Energy-dispersive X-ray microanalysis was used to determine calcium/phosphorous (Ca/P) ratios in undecalcified teeth, and the sulfur (S) content of dentin of decalcified teeth from normal patients and patients with familial hypophosphatemia, in an attempt to determine the effect of phosphorus deficiency. The results showed that normal enamel has a slightly elevated Ca/P ratio compared to pure apatite. Enamel from a tooth of an untreated patient with hypophosphatemia exhibited a significantly higher Ca/P ratio than the normal teeth whereas enamel from teeth of an intermittently treated patient exhibited Ca/P ratios similar to pure apatite. Surprisingly, globular dentin in the same teeth showed a Ca/P ratio similar to that of globular dentin of the untreated tooth. The decalcified dentin from teeth of three hypophosphatemic patients and eight normal patients showed a S peak which varied widely in concentration. No detectable differences could be found between normal and diseased teeth.

Adolescent↗
PubMed1977

Lack of effect of vitamin D and its metabolites on intestinal phosphate transport in familial hypophosphatemia of mice.

Intestinal calcium and phosphate transport was studied in normal and hypophosphatemic mice fed a variety of dietary regimens with and without vitamin D. Regardless of dietary phosphorus levels, the genetic hypophosphatemic mice had drastically reduced levels of serum inorganic phosphate and intestinal phosphate transport while showing only slightly reduced serum calcium and intestinal calcium transport levels. The inclusion of vitamin D in the diet did not increase the low serum phosphorus levels and low rates of intestinal phosphate transport in the genetic hypophosphatemic mice, while it did increase serum calcium and intestinal calcium transport levels. The administration of 1,25-dihydroxyvitamin D3 to the hypophosphatemic mice stimulated intestinal calcium transport but had no effect on intestinal phosphate transport. In contrast, the 1,25-dihydroxyvitamin D3 stimulated both phosphate and calcium transport in the intestine of normal mice. The results obtained are consistent with the hypothesis that the primary metabolic disturbance in familial hypophosphatemia involves a defect in phosphate transport mechanisms.

Animals↗
PubMed1967

Metabolism of vitamin D3-3H in vitamin D-resistant rickets and familial hypophosphatemia.

The fate of an intravenous dose of tritiated vitamin D(3) was studied in seven normal subjects, four children with vitamin D-resistant rickets, and four adults with a familial history of vitamin D-resistant rickets and persistent hypophosphatemia. An abnormal metabolism of vitamin D in vitamin D-resistant rickets was defined and characterized by a decrease in the plasma fractional turnover rate, a marked increase in plasma water-soluble metabolites, and a relative decrease in the conversion of vitamin D to a polar, biologically active metabolite. Alterations in vitamin D metabolism in the adults with persistent hypophosphatemia were similar but less severe than those of affected children with vitamin D-resistant rickets. It is tentatively concluded that the abnormalities in vitamin D metabolism documented in patients with vitamin D-resistant rickets and familial hypophosphatemia may account for the observed osseous and biochemical changes.

Adolescent↗
PubMed1990

Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome?

We report on two brothers with renal hypophosphatemia, intracerebral calcifications, minor facial anomalies, and short distal phalanges. The children presented with recurrent dental abscesses; one had premature closure of the anterior fontanelle. Biochemical findings included hypophosphatemia and elevated serum alkaline phosphatase with normocalcemia. Blood levels of parathyroid hormone, 1,25(OH)2 and 25(OH) vitamin D levels were normal; TRP (the fractional tubular reabsorption of PO4) and TmP/GFR (the tubular maximum rate of PO4 reabsorption in relation to GFR) were low. Both parents had a normal serum phosphate and brain CT scan without evidence of calcifications. This apparently new syndrome of renal hypophosphatemia associated with intracerebral calcifications appears to be inherited as either an autosomal recessive or an X-linked trait.

Brain↗
PubMed1989

Familial hypophosphatemic rickets: bone mass measurements in children following therapy with calcitriol and supplemental phosphate.

Familial hypophosphatemic rickets is characterized by defective skeletal mineralization resulting in abnormal growth and development. The pathologic and radiologic correlates of this syndrome have been given some investigation, but the effect of this mineralization defect on bone mineral density has not been adequately assessed. We measured axial and appendicular bone mineral in 17 children (mean age 5.59 +/- 4.87) with familial hypophosphatemia at baseline and at 6-month intervals after initiation of therapy with vitamin D3 (calcitriol) and phosphate supplementation. Noninvasive quantitative techniques included single photon absorptiometry (SPA) of the radius, combined cortical thickness (CCT) of the second metacarpal, and quantitative computed tomography (QCT) of vertebral trabecular bone. Thoraco-lumbar and hand/wrist radiographs were qualitatively assessed for the prevalence and severity of osteosclerosis, rickets, and other parameters indicative of metabolic bone disease as well as skeletal age. Quantitative determinations of bone mineral by each technique were compared with normal values for age and sex, and individual standardized scores (z-scores) were calculated at each measurement interval. Standard scores were also calculated for bone age-adjusted mineral values. At baseline, spinal trabecular bone by QCT was not significantly different from normal values; however, measurements of peripheral cortical bone by either SPA or CCT were significantly lower than values for normal children of the same age and sex (P = 0.05 and P = 0.01, respectively). Following therapy with calcitriol and phosphate, peripheral bone mass was not shown to improve significantly when contiguous standard scores were compared even when values were adjusted for bone age.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1988

Malabsorption of phosphate by the intestines of young X-linked hypophosphatemic mice.

X-linked hypophosphatemic (Hyp) mice are a model for human X-linked (familial) hypophosphatemia (vitamin D-resistant rickets). In several studies, Hyp mice have been shown to exhibit either normal intestinal phosphate absorption or malabsorption of phosphate. These apparently conflicting reports led us to further investigate intestinal phosphate absorption. Isolated intestinal segments in vivo were used in C57BL/6J normal and Hyp mice, both male and female. 33P was placed in the segment in 2 mM Na2HPO4 + 150 mM NaCl, pH 7.2. Mice at 4, 7, and 12 weeks of age were used. No significant differences in phosphate absorption were found between the sexes. At 4 weeks of age, Hyp mice showed significant malabsorption of phosphate, with the jejunum being the most severely affected. Malabsorption was judged by significantly more 33P remaining in the lumen, less in the intestinal tissue, and less in the plasma. At 7 weeks of age, these same trends were seen but at a nonsignificant level. By the 12th week of life, the absorption of 33P was similar in Hyp and normal mice. Thus, phosphate malabsorption in Hyp mice is an age-related phenomena. These changes parallel the malabsorption of calcium in young Hyp mice and reflect the lowered plasma 1,25-dihydroxyvitamin D (1,25(OH)2D) levels of young Hyp mice.

Aging↗
PubMed1982

Management of the primary dentition in vitamin D-resistant rickets.

Vitamin D-resistant rickets (familial hypophosphatemia) is a systemic disease secondary to defective renal-tubular reabsorption of phosphate. The major oral manifestations are spontaneous abscesses in a caries-free dentition. Pulpotomies or extractions were frequently described in the dental literature as the therapies of choice. This article presents a new prophylactic approach utilizing zinc oxide--eugenol pulpectomies and full crown coverage in an attempt to retain the primary dentition and prevent abscess formation.

Abscess↗
PubMed1976

Intestinal phosphate transport in familial hypophosphatemic rickets.

The present report outlines an attempt to characterize inorganic phosphate uptake by human jejunal mucosa using biopsy material obtained from six patients affected by the X-linked form of vitamin D-resistant rickets and six control subjects. The tissue from control subjects accumulated 32P actively in a linear fashion against time. The incorporation of inorganic phosphate into organophosphate derivatives is rapid and equilibrates after 10 min at an inorganic over total phosphate ratio of 0.45. Concentrative uptake and incorporation were both suppressed by anaerobiosis or cyanide. Rates of phosphate uptake and incorporation into the organic derivatives by the tissue of hypophosphatemic patients are comparable with normal values. Saturation kinetics observed over a wide range of substrate concentrations (0.003 to 3 mM) elicits only one transport system with an apparent Michaelis constant of 0.2 mM and a maximum velocity of 0.7 mmol/liter/40 min. The kinetic data obtained from the patients do not strikingly differ from the control values. The chemical analysis of the phosphate content of intestinal mucosa from two patients and two control subjects indicates that the tissue is not specifically phosphate-depleted in the mutant individuals. These results are in accordance with the positive results obtained with the oral replacement therapy in familial hypophosphatemia.

Adolescent↗
PubMed1976

Serum 25-hydroxyvitamin D in infantile rickets.

In small children with nutritional vitamin D deficiency, the serum concentration of 25-hydroxyvitamin D (25-OH-D), the major circulating metabolite of vitamin D, was correlated with the stage of clinical disease. It was low (16 to 20 ng/ml) but within the normal range in the earliest (hypocalcemic) stage of the deficiency syndrome and decreased (less than 15 ng/ml) in the more advanced stages. In patients with familial hypophosphatemia (X-linked dominant), mean serum 25-OH-D concentration was the same as in age-matched normal controls. Evidence is presented that endogenous parathyroid hormone may have a role in the depletion of serum 25-OH0D in deficiency states.

Adolescent↗
PubMedDate not supplied

Familial hypophosphatemic vitamin D-resistant rickets: review of the literature and report of case.

Familial hypophosphatemia, commonly known as vitamin D-resistant rickets, is inherited in an x-linked dominant manner. This condition is characterized by impairment of renal tubular reabsorption of inorganic phosphate and is inherited as a sex-linked dominant trait. Early clinical signs, usually detected about two years of age, included lateral bowing of the lower extremities, scoliosis, and frontal bossing. Characteristic dental findings are often the first clinically noticeable signs of the disease. This case report describes the typical dental findings in a 10-year old Hispanic female.

Child↗