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 469 records · Page 26Linked to original sources
PubMed1989

Vitamin D-deficiency rickets and myelofibrosis.

This study was aimed at detecting the early appearance of myelofibrosis by bone marrow biopsy examination in children with vitamin D-deficiency rickets. Twelve children, aged 4 to 18 months, were evaluated. Only a minimal increase of the reticulin was shown in rachitic children without anemia in whom no other laboratory evidence of myelofibrosis was present. Early signs of myelofibrosis with increase of reticulin were present in rachitic infants with anemia. In patients of the same age with iron deficiency anemia, the bone marrow reticulin findings were normal. Bone marrow biopsy after successful treatment of rickets could be repeated in one patient with myelofibrosis; results indicated that the myelofibrosis with anemia associated with vitamin D-deficiency rickets is reversible by vitamin D treatment.

Anemia, Hypochromic↗
PubMed1995

Long-term growth hormone treatment in children with renal hypophosphatemic rickets: effects on growth, mineral metabolism, and bone density.

OBJECTIVE: To evaluate the effects of treatment with recombinant human growth hormone (rhGH) on growth, mineral metabolism, and bone density in children with renal hypophosphatemic rickets (RHR). DESIGN: Long-term rhGH treatment combined with conventional therapy with 1,25-dihydroxyvitamin D3 plus inorganic phosphate salts. SETTING: Endocrine unit, department of pediatrics, university hospital. SUBJECTS: Twelve patients (5 boys; age range 4.6 to 12.5 years, median 7.0 years) were subdivided into two groups of six patients on the basis of the median of height z score (-2.41) and the median bone age/statural age (BA/SA) ratio (1.23). Group A included patients with a severe degree of short stature (height z score -3.4 +/- 0.5) (mean +/- SD) and altered BA/SA ratio (1.26 +/- 0.08); group B included patients with a lesser degree of short stature (height z score -2.1 +/- 0.6, p < 0.001 vs group A) and more normal BA/SA ratio (1.04 +/- 0.15, p < 0.01 vs group A). INTERVENTION: Group A received rhGH treatment (0.6 IU/kg per week subcutaneously) combined with conventional therapy; group B received conventional therapy alone. MEASUREMENTS: Height, growth velocity, predicted adult height, serum values of calcium, phosphate, bone alkaline phosphatase isoenzyme, osteocalcin, propeptides of type I and type III procollagen, intact parathyroid hormone, 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and urinary calcium/urinary creatinine ratio and tubular maximum for phosphate reabsorption normalized to the glomerular filtration rate (TmP/GFR), as well as radial bone density, were measured at baseline and for 3 years. RESULTS: Height z score, growth velocity z score, predicted adult height, serum values of phosphate, bone alkaline phosphatase isoenzyme, osteocalcin, propeptides of type I and type III procollagen, intact parathyroid hormone 1,25-dihydroxyvitamin D, and TmP/GFR, as well as radial bone density, improved significantly only in group A. Serum calcium and 25-hydroxyvitamin D, and urinary calcium/urinary creatinine ratio did not change in either group. CONCLUSIONS: Long-term rhGH administration may benefit growth, phosphate retention, and bone density in patients with RHR, without evidence of side effects.

Bone Density↗
PubMed1995

Recurring oral giant cell lesion in a child with X-linked hypophosphatemic rickets: clinical manifestation of occult parathyroidism?

A 9-year-old boy with X-linked hypophosphatemic rickets had a recurring oral giant cell lesion. These lesions are relatively uncommon in children and represent a potentially aggressive disorder that is microscopically indistinguishable from the brown tumors of hyperparathyroidism. Subclinical hyperparathyroidism is not uncommon in X-linked hypophosphatemic rickets and may account for the giant cell lesion in this patient.

Biopsy↗
PubMed1995

Healing of rickets during vitamin D therapy despite defective vitamin D receptors in two siblings with vitamin D-dependent rickets type II.

We report the healing of severe rickets despite hypocalcemia in two siblings with absent vitamin D receptors; long periods of treatment with excessive doses of vitamin D led to relative hypoparathyroidism and a return to normal of calcium metabolism during calcitriol treatment. This finding suggests that some other regulating factor may substitute for the defective vitamin D receptor.

Dose-Response Relationship, Drug↗
PubMed1999

Urinary supersaturation of calcium oxalate and phosphate in patients with X-linked hypophosphatemic rickets and in healthy schoolchildren.

UNLABELLED: Nephrocalcinosis (NC) is a complication of the treatment of X-linked hypophosphatemic rickets (XLHR). Some studies have found that treated patients have enteric hyperoxaluria caused by phosphate therapy and have implicated calcium oxalate, whereas others have found only calcium phosphate in renal biopsy tissue. AIM AND METHODS: We aimed to study the urinary supersaturation of calcium oxalate and calcium phosphate and to determine whether these measures are risk factors for NC. We collected 24-hour urine samples from 20 patients (12 girls) with XLHR, mean +/- SD age 8.2 +/- 4.7 years, and from 79 age-matched members of a healthy control group prospectively. RESULTS: The median 24-hour urine excretions of oxalate, phosphate, and citrate (mmol/1.73 m(2) per day) were significantly increased in patients compared with the control group (oxalate 0.38 vs 0.28, P =. 0012; phosphate 63.1 vs 25.8, P <.0001; citrate 4.18 vs 2.7, P =. 0002). However, no significant differences were seen in the calcium oxalate or calcium phosphate between patients and the control group. No significant differences were seen in 24-hour urine calcium or magnesium excretion between patients and the control group; however, 8 patients had hypercalciuria. A significant higher urine volume in patients compared with the normal group (826 mL/m(2) 24-hour vs 597 mL/m(2) 24-hour; P <.005) was found. Twelve patients had NC at the time of investigation, and although the oxalate excretion was significantly higher in these patients, no significant difference was seen in the relative supersaturation of calcium oxalate monohydrate (CaC(2)O(4).H(2)O) compared with the 8 without NC. CONCLUSIONS: Although 24-hour urine oxalate and phosphate excretion are increased in treated patients with XLHR, there is no increase in the supersaturation of either calcium oxalate or phosphate. Determination of the supersaturation of calcium oxalate or calcium phosphate does not predict the development of NC in XLHR.

Calcium Oxalate↗
PubMed1997

New perspectives on the biology and treatment of X-linked hypophosphatemic rickets.

This article updates the practicing pediatrician's knowledge of the hypophophatemic disorders that may occur in children. The classic X-linked disorder is emphasized. Details of clinical manifestations, the wide spectrum of disease severity, and complications of the disorder in adults are reviewed. Recent research, new genetic findings, and speculations regarding pathophysiology are discussed. A strategy for approaching medical treatment of X-linked hypophosphatemic rickets is provided, together with complications of treatment and treatment after cessation of growth.

Adult↗
PubMed1976

Muscle weakness in osteomalacia.

The muscle weakness that frequently accompanies osteomalacia and rickets may arise from a variety of causes. Particularly in patients with muscle weakness, identification of the metabolic disorder is important, since effective treatment is often possible.

Calcium↗