Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The seventh case in the world literature of primary hyperparathyroidism in a neonate is reported. This is the fifth case in which an autopsy was performed. The clinical and anatomic findings in all seven cases are reviewed and compared. Neonates with primary hyperparathyroidism show diffuse hyperplasia of the parathyroid glands. The bones show disturbed osteogenesis, bone resorption, and widespread fibrosis of the marrow cavities. Bony cysts are not appreciated. Pathologic fractures are common. Marked hypercalciuria or hyperphosphaturia is usually not observed, perhaps because the immature renal tubules fail to respond to the influence of excess parathormone. Aminoaciduria and anemia are commonly observed. The prognosis is grave, and the etiology of this syndrome remains unexplained.
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PMID:Primary neonatal hyperparathyroidism. Report of a case and review of the literature. 110 78

Nineteen patients with histologically confirmed parathyroid adenomas were studied immediately before and 12 months after operation. The concentrations of 37 amino acids were estimated by chromatography in plasma and urine. In addition, proximal tubular function was studied by measuring the excretion of beta 2-microglobulin. No general aminoaciduria was registered either before or after operation but there were variations between preoperative and postoperative values in the plasma and urinary concentrations of a few amino acids. There were no correlations between preoperative and postoperative concentrations of calcium, parathyroid hormone or the various amino acids in plasma or urine. Nor was there any between the fall in serum calcium and the concentrations of the amino acids. There was no correlation between glomerular filtration rate and the amount of the different amino acids filtered. beta 2-Microglobulin excretion was normal both before and after operation in all but one patient. Aminoaciduria does not seem to be present in primary hyper-parathyroidism. Plasma and urinary concentrations of amino acids were unchanged after parathyroidectomy and proximal tubular function, assessed by measuring concentrations of amino acids in plasma and urine and urinary excretion of beta 2-microglobulin does not seem to be affected in primary hyperparathyroidism.
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PMID:Plasma and urinary amino acids as indicators of proximal tubular function in primary hyperparathyroidism. 168 72

An unusual case of rickets associated with hypercalciuria is described. In addition to proteinuria, the patient had phosphaturia, aminoaciduria, renal glucosuria and impaired renal concentration but no renal tubular acidosis. Studies did not support the diagnosis of primary hyperparathyroidism. The findings in the patient were very similar to those in 4 previously reported cases and are suggestive of a new combination of multiple renal tubular defects.
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PMID:Hypercalciuric rickets: a rare cause of nephrolithiasis. 624 64

Early reports of patients with metabolic bone diseases such as nutritional osteomalacia, Fanconi syndrome, indicated an association with aminoaciduria. This association has since been described in osteomalacia of G. I. or hepatic origin, secondary to anticonvulsant therapy, tumors, and chronic renal failure. Aminoaciduria also occurs in primary hyperparathyroidism. In nutritional osteomalacia, vitamin D deficiency was thought to be responsible for the renal tubular abnormality, since it responded to treatment with vitamin D. However, since the description of aminoaciduria in hyperparathyroidism, the literature has been divided concerning the etiology of aminoacidura in conditions associated with abnormal vitamin D metabolism because secondary hyperparathyroidism often occurs in these conditions. Recently, some cases of Fanconi syndrome and a case of tumor-associated osteomalacia have been described with low or absent plasma 1,25-dihydroxycholecalciferol levels, normal serum PTH, and aminoaciduria. In one of these cases, and more recently in patients with chronic renal failure, it has been demonstrated that treatment with 1,25(OH)2D3 can improve amino acid transport independently from changes in serum PTH levels. 1,25(OH)2D3 therefore normally opposes the aminoaciduric effect of PTH. This is an agreement with observations which demonstrate that 1,25(OH)2D3 also opposes the phosphaturic action of parathyroid hormone.
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PMID:Aminoaciduria--its relationship to vitamin D and parathyroid hormone. 699 53

A Japanese female neonate exhibiting severe respiratory distress was found to have primary hyperparathyroidism. Features included demineralization of the bones, hypercalcemia, hypophosphatemia, and elevated levels of parathyroid hormone, together with marked, generalized aminoaciduria. Four enlarged parathyroid glands were surgically removed, and remineralization of the bones was noticed after the operation. The characteristic pathologic change of the glands was chief cell hyperplasia. A survey of the family identified three other hypercalcemic but asymptomatic relatives. The mode of inheritance was autosomal dominant. This patient seems to be the second neonate with familial hypocalciuric hypercalcemia to be described in the literature.
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PMID:Neonatal primary hyperparathyroidism in familial hypocalciuric hypercalcemia. 710 25