PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “HYPOPHOSPHATEMIA, FAMILIAL”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 883 records · Page 49Linked to original sources
PubMed2002

[Bone disease with vitamin D receptor abnormality].

In humans, the vitamin D receptor (VDR) gene has been localized to the chromosomal locus 12q13-14. The gene is composed of a minimum of nine exons. Hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR) known as vitamin D dependent rickets type II is a rare autosomal recessive disease that arises as a result of mutations in the gene encoding the VDR. Genetic factors play a key role in determining bone mass, which is an important predictor of osteoporosis. Recently, polymorphism at the VDR locus has been implicated as a genetic marker for bone mineral density. Vitamin D receptor gene start codon polymorphisms, and 3'-end region polymorphisms may modulate bone density.

Animals↗
PubMedDate not supplied

Deformity correction of knee and leg lengthening by Ilizarov method in hypophosphatemic rickets: outcomes and significance of serum phosphate level.

The authors evaluated 14 patients with hypophosphatemic rickets who underwent correction of a knee deformity along with a leg lengthening by the Ilizarov method. Deformity correction alone was performed in 8 femora and 4 tibiae-fibulae, and concomitant deformity correction and limb lengthening (>1.0 cm) in 9 femora and 19 tibiae-fibulae. The healing index correlated with the biochemical parameters. Knee deformities were satisfactorily corrected in all patients except one. There was a statistically significant negative correlation between the healing index and the serum phosphate level: those who had a serum phosphate level higher than 2.5 mg/dL showed a relatively rapid regenerate bone healing compared with those with less than 2.5 mg/dL. The authors conclude that a serum phosphate level of 2.5 mg/dL as a cut-off point should be considered in deciding whether deformity correction alone or with a concomitant leg lengthening should be undertaken.

Adolescent↗
PubMedDate not supplied

Evaluation of aggressive pulp therapy in a population of vitamin D-resistant rickets patients: a follow-up of 4 cases.

This investigation collected clinical and radiographic data from a retrospective chart review of 4 patients receiving prophylactic formocresol pulpotomies and stainless steel crowns following a dental abscess associated with a medical diagnosis of vitamin-D resistant rickets (VDRR) at Texas Scottish Rite Hospital for Children in Dallas, Tex. Clinical and radiographic data were available for 29 primary teeth in 4 children, with follow-up times ranging from 2 years, 1 month to 5 years, 6 months. Based on available recalls of 29 teeth treated following the prophylactic formocresol pulpotomy, 22 failed clinically. The earliest failure occurred at 3 months; the longest time to failure was 3 years, 9 months. No trends were discernable between tooth type and failure rate, although the shorter the time between eruption of the tooth and pulpotomy treatment, the greater the chance of success. Presently, there is not enough evidence to suggest that prophylactic pulpotomy therapy in VDRR patients is beneficial in preserving their primary dentition.

Abscess↗
PubMed1992

Effect of magnesium on phosphorus and calcium metabolism.

Magnesium is an element that occurs ubiquitously in nature. Magnesium and calcium metabolism are closely related. The intestinal absorption and the renal excretion of the two ions are interdependent. The relationship between phosphorus and magnesium metabolism is more difficult to demonstrate. The most frequent causes of hypomagnesemia in children are reduced intake, impaired intestinal absorption, renal loss and genetic diseases. Hypomagnesemia is reflected clinically in the nervous system, and there are neurophysiological and metabolic changes. Severe hypomagnesemia induces secondary hypocalcemia in most experimental animals except rats. Furthermore, severe hypomagnesemia induces functional hypoparathyroidism. In vitro studies have demonstrated that magnesium can modulate parathyroid hormone (PTH) secretion in a similar way to calcium. An acute decrease in magnesium concentration stimulates PTH secretion, and an acute increase in concentration decreases secretion. Magnesium is likely to play an important role in vitamin D metabolism. Some patients with hypocalcemia and magnesium deficiency are resistant to pharmacological doses of vitamin D or may have a form of magnesium-dependent vitamin D-resistant rickets. Phosphate depletion has been observed to be accompanied by an increase in urinary magnesium and calcium. In pediatrics the syndrome of phosphate depletion is observed particularly often in premature babies, who often receive a low-P diet. Magnesium is involved in many of the biochemical reactions that take place in the cell, and particularly in processes involving the formation and utilization of ATP. Thus, at the cellular level, magnesium plays a key role in ionic transport processes.

Calcium↗
PubMed1992

[A report on two siblings with vitamin D resistant rickets treated with 1 alpha-hydroxy-vitamin D3 until completion of the growth].

The treatment of vitamin D resistant rickets still raises much controversy. This report describes out experiences on 1 alpha OHD3 treatment in two siblings from childhood till completion of the growth. The treatment began from age 3 and 8 in these two patients respectively. The daily doses were necessary to maintain the healing and increased during the growth period so that the doses per body weight were virtually constant at 1 microgram/kg/day. Under this regimen, the improvement of rickets was recognized in the radiogram, and the lower leg deformity corrected. In one case the bone biopsy confirmed the improvement of disturbed calcification. The final height was 152.5 cm (-0.8 SD) and 149 cm (-1.4 SD) respectively suggesting the effectiveness of 1 alpha OHD3 on the growth promotion. Around the closure of growth plate, the regimen induced hypercalcemia. Thereafter the doses were reduced to one fourth or one fifth of those in the growth period.

Bone Development↗
PubMed1992

[Vitamin D-resistant rickets type II: apropos of 2 cases].

We present two cases of vitamin D-dependent rickets type II, a rare disease caused by a hereditary disorder of the receptor for 1,25 dihydroxyvitamin D (1,25 (OH) 2 D). The first patient was seen for the first time at the age of 2 years with florid rickets, almost complete alopecia, and an elevated plasma level of 1,25 (OH) 2 D; there was no improvement following treatment with 1 alpha-hydroxy-vitamin D3). The second patient, a boy whose parents are first cousins, was seen at the age of 7 years with severe rickets, partial alopecia and an elevated serum level of 1,25 (OH) 2 D; the rickets disappeared after administering high doses of 1 alpha hydroxyvitamin D3 and vitamin D.

Alopecia↗
PubMed1992

[A clinical analysis of 13 cases of adult osteomalacia].

13 cases of renal tubular osteomalacia, consisting of 5 cases of Vitamin D resistant rickets (VDRR), 6 cases of renal tubular acidosis(RTA) and 2 cases of Fanconis syndrome were reported. The biochemical findings of the serum and urine from the 13 cases were compared with those from normal controls. The clinical findings, diagnosis and treatment of renal tubular osteomalacia were reviewed. The differential diagnosis of osteomalacia with laboratory methods and the mechanism of its pathogenesis were discussed.

Acidosis, Renal Tubular↗