Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020438 (hypercalciuria)
 2,502 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

Case report of a 18 year old boy with short stature, microceophaly, mental retardation and multiple dysmorphic signs. At the age of 9 years a severe generalised osteoporosis was discovered. A pathological fracture of the greenwoor type healed without proper callus formation. The osteoporosis persists without signs of either deterioration or improvement. The serum phosphorus is slightly decreased, while serum calcium, alkaline phosphatase and renal functions are normal. The main biochemical finding is a constant hyperclaciuria of 6-13 mg/kg/24 h, which can be corrected by treatment with oral sodium phosphate. No other chronic disease could be found which would explain the bone disease. The complex disease of this boy does not fit into the known pictures of osteogenesis imperfecta, idiopathic juvenile osteoporosis or of idiopathic hypercalciuria, and might therefore be another type of demineralising bone disease. It is suggested, that the cause might be an impairment of the calcium fixation of collagen fibres during desmal ossification.
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PMID:[Uncommon form of idiopathic osteoporosis with hypercalciuria, growth retardation and mental retardation]. 115 69