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)

Primary hyperparathyroidism caused by solitary adenomas occurs rarely (especially in children and adolescents). The clinical manifestations are usually subtle and that is why the mentioned disorder is usually late diagnosed and as an effect--late treated. We present the case of a 17 year old girl, an ambulatory patient who had been "observed" for over 12 months because of persistent ostealgia. She had not been properly diagnosed. The first diagnostic investigation of calcium and phosphate balance was provided only when multifocal osteolysis of tibias, hip and metacarpal bones was detected and biopsy of the mentioned osteolytic lesions was done. After the admission to The Department of Pediatrics, Endocrinology and Disease of Adolescents: Ca 3.02-3.06 mmol/l, PO4- 0.32-0.62 mmol/l, ACP 19.4 U/l, ALP 864 U/l, PTH 770 pg/ml [normal values: 10-70]. Densitometry findings: BMD (Neck[L]) 0.636 g/cm2, BMD (Neck[R]) 0.722 g/cm2. The parathyroid adenoma was removed after the exploration and localization with MIBI99mTc (scintigraphy). Clinical diagnosis was verified by histologic findings. 5 months after: BMD (Neck[L]) 0.850 g/cm2, BMD (Neck[R]) 0.741 g/cm2, calcemia 2.38 mmol/l, phosphatemia 1.14 mmol/l, ACP 6.2 U/l, ALP 159 U/l. Radiograms show evident improvement of bone tissue structure.
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PMID:[Multifocal osteolysis as a result of delayed diagnosis for primary hyperparathyroidism]. 1090 59