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Results for “HYPOPHOSPHATEMIA, FAMILIAL”

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At least 649 records · Page 36Linked to original sources
PubMed1972

Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia.

Mutant hemizygotes with X-linked hypophosphatemia lack a parathyroid hormone-sensitive component of inorganic phosphate transport in kidney; female heterozygotes retain a variable proportion of this type of transport. The residual mechanism for reabsorption in affected males allows inorganic phosphate efflux from the kidney to urine so that net "secretion" is sometimes observed; the latter is directly proportional to the serum concentration of inorganic phosphate. Calcium acts on the kidney tubule to enhance net reabsorption by this component of inorganic phosphate transport.

Adolescent↗
PubMed1984

Vitamin D3--resistant fibroblasts have immunoassayable 1,25-dihydroxyvitamin D3 receptors.

Cultured fibroblasts obtained from patients with tissue resistance to 1,25-dihydroxyvitamin D3 (vitamin D3--dependent rickets, type II) contain normal, low, or undetectable concentrations of this hormone's receptor protein as measured by a ligand-binding assay. Extracts from these cells were evaluated for receptors by immunoassay with a recently developed monoclonal antibody to the chick receptor. The results show that a protein sedimenting at 3.7S and recognizable by the antibody exists in comparable concentrations in cells from both normal and resistant patients, irrespective of the hormone-binding abnormalities of the cells. This implies that deficiencies in hormone binding associated with inherited tissue resistance to 1,25-dihydroxyvitamin D3 probably arise from structural variations in the receptor molecule and not from defective receptor synthesis.

Antibodies, Monoclonal↗
PubMed1976

Vitamin-D deficiency rickets in Jamaican children.

Vitamin-D deficiency is not as rare in Jamaica as previously believed. 9 children with vitamin-D deficiency rickets have been seen at the University Hospital of the West Indies during the past 5 years. All were over 3 years of age at time of presentation. Both dietary deficiency of vitamin D and lack of exposure to sunlight seem to be important causes. Children living in rural Jamaica seem to be more susceptible to the disease than those living in a city, due perhaps to more prolonged breast feeding and lack of fortified milk feeds on weaning.

Black or African American↗
PubMed1976

Recessive hypophosphataemic rickets, and possible aetiology of the 'vitamin D-resistant' syndrome.

Two out of 3 children of a first-cousin marriage presented with severe rickets in infancy and are now adult. Their disease has shown continued activity, marked resistance to treatment with vitamin D, early fusion of cranial sutures, greatly increased bone density, nerve deafness, and life-long hypophosphataemia unaffected by treatment. Both parents and a third sib were normal clinically and biochemically. Blood grouping supported both stated paternity and parental consanguinity. Genetics of this unique disease can only be explained satisfactorily on the basis of autosomal recessive transmission, a mode not previously reported in primary hypophosphataemia. This homozygous disease resembles an exaggerated form of common X-linked rickets, though it is caused by a different gene. Although rare, it is particularly important because of the information it provides on the pathogenesis of both forms. We propose that both syndromes may result from multiple target organ unresponsiveness to 1,25-dihydroxycholecalciferol in intestine, kidney, bone, and parathyroid gland.

Adolescent↗
PubMed1980

Treatment of hypophosphataemic vitamin D-resistant rickets with massive doses of 1 alpha-hydroxy-vitamin D3 during childhood.

Plasma levels of 1,25 dihydroxy-vitamin D (1,25-(OH)2-D) were low in 3 children with hypophosphataemic vitamin D-resistant rickets (HVDRR) during childhood, but increased after very large doses (0.5 to 2 micrograms/kg per day) of 1 alpha-hydroxy-vitamin D (1 alpha-OH-D3). This treatment has two advantages. Firstly, hypercalcaemia is easily controlled by reducing the dose of 1 alpha-OH-D3 because of its short half-life. Secondly, the administration of 1 alpha-OH-D3 to patients with HVDRR can enhance the tubular reabsorption of phosphate, and this seems desirable in treating HVDRR.

Adolescent↗
PubMed1981

Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3.

We diagnosed non X-linked hypophosphataemic bone disease in a 38-month-old girl. Findings included: genu varum, shortened stature, fasting hypophosphataemia (2.3-2.5 mg/100 ml; 0.74-0.81 mmol/l), diminished theoretical renal threshold for phosphate (TmP/GFR), and osteomalacia without rickets. One patient (the father) had fasting hypophosphataemia (2.3-2.7 mg/100 ml; 0.74-0.87 mmol/l) and low TmP/GFR without osteomalacia or shortened stature. Treatment of the girl with 1,25-(OH)2D3 (1 microgram a day) raised the level of serum phosphorus, improved tubular reabsorption of phosphate, and healed the bone deformity; this combination of responses is not present in X-linked hypophosphataemia. There was no correction of hypophosphataemia or TmP/GFR with 1,25-(OH)2D3 treatment (1-3 micrograms a day) in the father.

Adult↗
PubMed1993

Intra-atrial calcium infusions, growth, and development in end organ resistance to vitamin D.

A five and a half year follow up of a girl with end organ resistant rickets is described. After failing to respond to high dose oral alfacalcidol (4 micrograms/kg/day) and calcium supplements, treatment for one year with domiciliary intra-atrial calcium infusions at 2 years of age induced a complete remission, which was maintained on subsequent high dose oral calcium supplement. Overnight infusions were well tolerated without adverse cardiovascular or renal sequelae or ectopic calcification. If the first three years of life are survived, the prognosis for a normal life on oral treatment is excellent.

Calcium↗
PubMed1998

Phosphate diabetes in patients with chronic fatigue syndrome.

Phosphate depletion is associated with neuromuscular dysfunction due to changes in mitochondrial respiration that result in a defect of intracellular oxidative metabolism. Phosphate diabetes causes phosphate depletion due to abnormal renal re-absorption of phosphate be the proximal renal tubule. Most of the symptoms presented by patients with phosphate diabetes such as myalgia, fatigue and mild depression, are also common in patients with chronic fatigue syndrome, but this differential diagnosis has not been considered. We investigated the possible association between chronic fatigue syndrome and phosphate diabetes in 87 patients who fulfilled the criteria for chronic fatigue syndrome. Control subjects were 37 volunteers, who explicitly denied fatigue and chronic illness on a screening questionnaire. Re-absorption of phosphate by the proximal renal tubule, phosphate clearance and renal threshold phosphate concentration were the main outcome measures in both groups. Of the 87 patients with chronic fatigue syndrome, nine also fulfilled the diagnostic criteria for phosphate diabetes. In conclusion, we report a previously undefined relationship between chronic fatigue syndrome and phosphate diabetes. Phosphate diabetes should be considered in differential diagnosis with chronic fatigue syndrome; further studies are needed to investigate the incidence of phosphate diabetes in patients with chronic fatigue syndrome and the possible beneficial effect of vitamin D and oral phosphate supplements.

Adult↗