Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Uremic women on hemodialysis with metabolic bone disease (hyperparathyroidism, osteomalacia resulting from defective vitamin D metabolism) and anemia (erythropoietin deficiency) are known to give birth to infants without bone disease or anemia. Therefore, skeletal development (enchondral and desmal bone formation) and hepatic erythropoiesis were evaluated in fetuses of uremic rats. These fetuses failed to show defective mineralisation or evidence of bone disease. Bolus injection of high doses of exogenous PTH into the maternal or fetal organism did not affect fetal bone histology. In addition, no apparent defect of bone mineralisation or bone formation was found in fetuses of ricketic rats. Normal mineralisation in the offspring of uremic rats may be explained by fetal hyperphosphatemia and/or insensitivity of fetal (woven) bone mineralisation to vitamin D. Absence of fetal anemia (normal hematocrits, normal density of hematopoietic cells in the liver) in the presence of maternal anemia is presumably due to the insensitivity of fetal erythropoiesis to erythropoietin.
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PMID:Fetal development in experimental uremia. 14 12

Pseudohypoparathyroidism (PsH) is a genetic disease characterized by hypocalcemia, hyperphosphatemia, and metabolic unresponsiveness to parathyroid hormone (PTH). The administration of PTH elicits neither a significant rise in serum calcium (calcemic response) nor a decrease in the renal tubule reabsorption of phosphorus (phosphaturic response). The diminished phosphaturic response is due to an inability of PTH to generate cyclic AMP in renal tubule cells. We investigated the question of whether hypocalcemia and deficient calcemic response to PTH are due to a similar cyclic AMP defect in bone or to an acquired vitamin D deficiency. Four patients were studied. The active form of vitamin D (1,25-dihydroxycholecalciferol) was measured in 3 and was low. Treatment with vitamin D2 restored the serum calcium and the calcemic response to PTH to normal without changing the impaired renal response. Bone biopsy was performed in 2 patients and showed morphologic evidence of increased osteoclastic activity and osteomalacia. The data indicate that the hypocalcemia and bone disease in PsH are due to active vitamin D deficiency, possibly resulting from the genetic renal lesion.
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PMID:1,25-Dihydroxycholecalciferol deficiency: the probable cause of hypocalcemia and metabolic bone disease in pseudohypoparathyroidism. 108 95

At least one component of the secondary hyperparathyroidism of end stage renal failure is hyperphosphatemia. Since 1968, 101 patients were treated definitively in a home dialysis program, and 78 of the patients remain active. Despite maintenance of the serum phosphate level below 5 milligrams per cent, one-fourth eventually had progressive hyperparathyroidism develop, primarily manifested by bone disease. Serum calcium levels were generally normal and, except at the extremes, were not predictive. The incidence of hyperparathyroidism was not influenced by the age of the patient, but it increased with duration of dialysis. Hyperparathyroidism developed in 13 of 15 patients with serum parathormone levels greater than 500 but in only six of 56 patients with values less than 500. The single most important manifestation was progressive bone disease. Of 16 patients treated by subtotal parathyroidectomy, all had large hyperplastic parathyroid glands. All of the patients who were observed for longer than six months had progressive improvement in the bone disease. Hyperparathyroidism is a significant problem in the dialysis patient, despite phosphate control. Progressive bone disease and elevated serum parathormone levels are the most important indicators. The incidence is directly influenced by duration of dialysis. Subtotal parathyroidectomy is effective in reversing the bone changes.
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PMID:Hyperparathyroidism in the maintenance dialysis patient. 125 11

Renal osteodystrophy is a complex disorder which can be divided into five distinct bone histologic subtypes: mild bone disease, hyperparathyroid bone disease, mixed bone disease, osteomalacia, and low-turnover bone disease. Hyperparathyroidism develops in renal failure due to two principal abnormalities: 1,25(OH)2D3 deficiency and hyperphosphatemia. Treatment of these problems is important in order to prevent hyperparathyroidism. Most cases of osteomalacia, mixed bone disease, and low-turnover bone disease are influenced by aluminum status and parathyroid hormone. Aluminum-associated bone disease can be treated with termination of aluminum exposure and/or deferoxamine therapy. Numerous diagnostic pitfalls exist in the evaluation of renal osteodystrophy, and the bone biopsy is extremely important to avoid these problems and plan proper therapy.
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PMID:Renal osteodystrophy. 219 69

Twenty obligate carriers of infantile hypophosphatasia (HOPS), a severe autosomal recessive metabolic bone disorder, were studied and compared with 36 controls. Decreased serum alkaline phosphatase activity and increased urinary phosphoethanolamine excretion were confirmed in the HOPS carriers. Relative hyperphosphatemia was documented for the first time in the carriers. Logistic regression analysis was used to develop models for the diagnosis of and screening for HOPS carriers in the high-risk population of Manitoba Mennonites. Models based on serum alkaline phosphatase activity and on serum phosphate levels with or without urinary phosphoethanolamine excretion were used for diagnostic purposes. A model based on serum alkaline phosphatase activity and on the serum phosphate level was the most suitable for screening.
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PMID:Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. 230 98

Thirteen patients treated with CAPD, 22 patients maintained on hemodialysis (HD) using aluminium-free water and matched for duration of treatment and 15 conservatively treated uremic patients (CONS) were evaluated by iliac bone biopsy to analyse the influence of CAPD on bone histomorphometry. CAPD patients were significantly (p less than 0.05) older (63.1 +/- 14.0, HD 52.7 +/- 13.3, CONS 53.3 +/- 11.7). Compared to HD the results were as follows: CAPD patients required significantly less aluminium to control hyperphosphatemia (0.16 vs. 0.49 g, p less than 0.005). They had a significantly lower incidence of symptomatic bone disease (p less than 0.05). Histomorphometry showed significantly lower osteoid volume (4.3 + 2.8% vs. 8.6 + 5.5%, p less than 0.05) and aluminium labelling intensity (0.15 vs. 1.0, p less than 0.05). Apart from bone mass indices, other histomorphometric variables showed an insignificantly more favourable trend in CAPD patients compared to HD. CONS patients had a significantly lower bone formation rate than CAPD (p less than 0.05), but otherwise no histomorphometric differences were observed. We conclude that CAPD patients require less aluminium therapy, have a lower risk of aluminium bone contamination, and may have a lower risk of developing uremic osteodystrophy.
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PMID:Bone histology in CAPD patients: a comparison with hemodialysis and conservatively treated chronic uremics. 257 5

Aluminum-related osteodystrophy, a crippling disease in patients with renal failure, can develop from the long-term ingestion of aluminum hydroxide gels. We present a diabetic patient treated with continuous ambulatory peritoneal dialysis (CAPD) who developed markedly elevated plasma aluminum levels but no musculoskeletal symptoms. Bone biopsy revealed features of the aplastic form of aluminum-related disease with significant aluminum staining, decreased osteoblastic osteoid, and decreased bone formation by double tetracycline labeling, but no excess accumulation of unmineralized osteoid. Aluminum hydroxide gels were discontinued and the patient received calcium carbonate to control hyperphosphatemia; 9 months later, a bone biopsy showed marked improvement of the aluminum-related bone disease, and at 2 to 10 months, plasma aluminum had decreased from 208.7 +/- 10.3 (SE) to 55.7 +/- 3.9 micrograms/L.
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PMID:Reversal of aluminum-related bone disease after substituting calcium carbonate for aluminum hydroxide. 333 1

Hyperparathyroidism associated with renal failure is due to chronic parathyroid stimulation by hypocalcemia, which, in turn, results from hyperphosphatemia and low circulating 1,25(OH)2D3. If prophylactic measures and medical treatment of hyperparathyroidism fail, parathyroidectomy should be performed to prevent the progression of bone disease. Resolution of renal hyperparathyroidism is often seen after kidney transplantation, but some hypercalcemic patients require prophylactic or therapeutic parathyroidectomy. Hypocalcemia is the most common complication after parathyroidectomy. Our long-term results with subtotal parathyroidectomy are satisfactory. Total parathyroidectomy plus parathyroid autograft should be used in selected cases.
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PMID:Hyperparathyroidism associated with renal disease. Pathogenesis, natural history, and surgical treatment. 355 Nov 50

Aluminum-containing phosphate (Al-binders) employed to control serum phosphorus in patients with chronic renal failure can be associated with the development of aluminum toxicity. To obviate the need for Al-binders, we examined the effectiveness of CaCO3 as a phosphate binder in 31 hemodialysis and 8 CAPD patients followed for 2 months while receiving Al-binders, and then, for 3-14 months while receiving CaCO3 (5.8 +/- 0.4 g/day). Monthly serum phosphorus averaged 5.4 +/- 0.2 mg/dl with Al-binders and 5.1 +/- 0.3 to 5.7 +/- 0.4 mg/dl with CaCO3 (p = NS). There were 25.2 episodes of hyperphosphatemia (serum phosphorus greater than 6.5 mg/dl) per 100 treatment months with Al-binders and 19.2 episodes/100 treatment months with CaCO3 (p = NS). Plasma aluminum levels, 105 +/- 21 micrograms/l during ingestion of Al-binders, fell to 34 +/- 11 micrograms/l after 8 months of therapy with CaCO3 (p less than 0.01). Monthly serum Ca averaged 9.5 +/- 0.1 mg/dl during Al administration and was 8.9 +/- 0.8 to 10.0 +/- 0.2 mg/dl with CaCO3 (p = NS). Thirty-four episodes of hypercalcemia (serum Ca greater than 11.0 mg/dl) occurred in 14 patients ingesting CaCO3, but hypercalcemia did not occur with ingestion of Al-binders. Al-related bone disease was found on bone biopsy in 11 of 13 patients who developed hypercalcemia, compared to only 5 of the 11 biopsied patients who remained normocalcemic (p less than 0.01 by chi 2 analysis). Other side effects included diarrhea in 1 patient and constipation in 3 patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Use of calcium carbonate as a phosphate binder in dialysis patients. 380 29

An 8 1/2-year-old girl presented with a long history of seizures, growth retardation, muscle weakness, gait disturbance, and hearing loss. Her evaluation revealed chronic moderate renal failure (serum creatinine 2.2 mg/dL), severe hypocalcemia (5 mg/dL), hyperphosphatemia (8.1 mg/dL), hypomagnesemia (1.5 mg/dL), increased urinary magnesium excretion (2 mg/kg/d), high fractional excretion of magnesium (21.7%), hypokalemia (3.2 mEq/L), and hyperkaliuria (26 mEq/L). Low circulating immunoreactive parathyroid hormone levels for the degree of the hypocalcemia (serum N-parathyroid hormone 212 pg/mL) and severe rickets without evidence of osteitis fibrosa cystica were found. The patient probably has primary renal leak hypomagnesemia (magnesuric hypomagnesemia) which caused impaired secretion of immunoreactive parathyroid hormone leading to severe hypocalcemia and calcium deficiency rickets. Treatment with magnesium and calcium supplements, calcitriol, and aluminum hydroxide resulted in marked clinical, biochemical, and radiologic improvement. Calcium deficiency rickets due to primary or secondary renal magnesium wasting in conjunction with moderate renal failure represents a largely unrecognized metabolic bone disease.
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PMID:Severe renal osteodystrophy without elevated serum immunoreactive parathyroid hormone concentrations in hypomagnesemia due to renal magnesium wasting. 382 40


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