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Results for “HYPOPHOSPHATEMIA, FAMILIAL”

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At least 1,009 records · Page 56Linked to original sources
PubMed1977

[Chronic hypophosphatemic osteopathy ("rachitis"). Clinico-osteological review].

Chronic hypophosphatemia is the most common type of "resistant" rickets. Bone deformities, dwarfism and X-chromosomal dominant heredity, are regular findings in this "inborn error" of phosphate metabolism. Continumous administration of high dosage of vitamin D results in some improvement of the rickets-like bone lesions. Oral administration of phosphate seems to improve longitudinal growth. A summary of our experiences in 44 patients is presented.

Adolescent↗
PubMed1977

[Chronic hypophosphatemic osteopathy (rachitis). Orthopedic review].

Origanized collaboration between the osteologist and the orthopaedic surgeons in diagnosis and treatment of this disease, is basically important for a successful orthopaedic approach and for the maintenance of stabile long-time healing-results. From a total of 48 patients, in 25 cases an operative treatment was necessary. The relationship between the biochemical distrubance of bone metabolism and biomechanical factors in the progressive development of articular and diaphyseal axis deformities, especially of the weight bearing lower extremities, was determined. The indications and mechanical conditions with relation to conservative and operative therapeutic procedures are analyzed and the praeoperative biomechanical and biochemical therapeutic approach is described in detail.

Adolescent↗
PubMedDate not supplied

The orthopaedic management of hypophosphataemic rickets.

The orthopaedic management of 19 patients with hypophosphataemic rickets was reviewed. Three groups of patients could be identified: teenagers or young adults without knee problems, those with knee problems, and adults or elderly patients with stiff joints due to mineralisation of ligaments. Osteotomies were best staged. Diaphyseal osteotomies were performed at all ages with stabilisation over an intramedullary nail; metaphyseal osteotomies were most successful at or close to maturity. Early degeneration of the knees with shedding of the articular cartilage was seen in young adults, and osteochondritis-like lesions were seen in some teenagers. Stiffness and bone pain were a feature in elderly patients.

Adolescent↗
PubMed1990

X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney.

Mutation at a locus (HPDR) on the X chromosome (McKusick 30780 [HPDR1]; 30781 [HPDR2]) causes impaired renal phosphate transport, hypophosphatemia, and an associated impairment in the process of mineralization in bone and teeth (X-linked hypophosphatemia [XLH]). We measured the dental pulp profile area (PRATIO [= pulp area/tooth area]) and serum phosphorus (Pi) values in uniformly treated XLH patients (six males, 81 teeth, 1,457 Pi values; 11 females, 129 teeth, 1,439 Pi values). Serum Pi values, reflecting the metabolic environment of tooth development, were obtained by repeated measurement between 1 mo and 26 years of age during treatment. PRATIO values calculated from standardized Rinn radiographs were used as outcome measurements of tooth development in XLH patients and in age-matched controls (12 males, 100 teeth; 27 females, 275 teeth). Age-dependent serum Pi values were not different in the treated XLH males and females. In teeth forming primary dentin there was no gene dosage effect on PRATIO values apparent in subjects below 15 years of age. However, in teeth forming secondary dentin a gene dosage was found in the subjects aged 15 to 25 years: XLH male teeth (n = 65) mean +/- SD = 0.163 +/- 0.046; XLH female teeth (n = 75) mean +/- SD = 0.137 +/- 0.039; control teeth (n = 209) mean +/- SD = 0.116 +/- 0.023; (higher PRATIO values mean less development or mineralization of secondary dentin); differences in these PRATIO values (males vs. female and XLH vs. control) were significant by mixed-model analysis of variance.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMedDate not supplied

[Tyrosinosis. A difficult diagnosis of late infancy].

The Authors report an unusual case of tyrosinosis in which neonatal metabolic screenings were not performed and the diagnosis was made only at 4 years of age. The diet induced an improvement of cirrhosis but did not influence renal tubular damage. The authors stress the diagnostic differential elements against other cirrhogenic metabolic diseases and emphasize the prospectives of liver transplantation.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Association of osteopetrosis and vitamin D-resistant rickets.

The following report concerns a case of malignant osteopetrosis associated with hypocalcemic rickets unresponsive to vitamin D. Parathyroid hormone (PTH) and Calcitonin (CT) secretions were studied in basal conditions and under calcium gluconate infusion, before and after high doses of vitamin D. Basal values (PTH: 690 pg Eq/ml; CT: 560 pg/ml) were found to be much higher than in five control subjects of the same age group, even after vitamin D therapy (PTH: 990 pg Eq/ml; CT:450 pg/ml). Like rickets, PTH and CT secretions do not seem, therefore, to be notably influenced by vitamin D therapy.

Calcitonin↗
PubMed1977

A case of McCune-Albright syndrome with hyperthyroidism and vitamin D-resistant rickets.

A girl aged 1 11/12 year with the unusual combination of McCune-Albright syndrome (polyostotic fibrous dysplasia, cutaneous pigmentation and precocious puberty), hyperthyroidism and vitamin D-resistant rickets is described. Urinary estrogens are increased, while serum LH and FSH responses to LH-RH are subnormal. Thyroid hormone levels in serum and 131I thyroidal uptake are increased, while TSH response to TRH is decreased. Serum phosphorus level is low and phosphate clearance high, while PTH is within normal range. Basal GH level and GH responses to various stimulations are high, but high basal GH is suppressed by oral glucose. The oral glucose tolerance test shows normal blood glucose with hypersecretion of insulin. These data suggest that the common pathogenesis of the various aspects of the syndrome is a hypersensitivity of the target organs, which include the pituitary, the thyroid, the gonads, the pancreatic islet cells and the proximal tubules of the kidney.

Female↗