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)

Although primary hyperparathyroidism has rarely been described in pediatric patients, prompt diagnosis can avoid severe CNS and metabolic consequences. The aim of this paper is to report a 6 year-old girl whose first symptoms began at eight days of age with cyanosis, hypotonia, and upward gaze deviation. At 4 months, she was admitted due to neurologic disorders and recurrent infection, but the definite diagnosis was made only six years later. Her serum calcium levels are among the highest ever reported in the medical literature, reaching 25.5 mg/dl (6.36 mmol/l). Hypercalcemia, very high levels of parathormone (1550 ng/l--normal range 10-65) and bone deformities posed no problem to diagnosis when she first came to our attention. Nephrocalcinosis and impaired renal function were detected and this child had to be treated with diuretics (furosemide) and hydration that were able to lower her serum calcium levels. Imaging studies including 99mTc-sestamibi scan were not diagnostic. At surgery, the four parathyroid glands were mildly enlarged, with primary hyperplasia. The four glands were removed, cryopreserved, and 14 fragments (1 mm each) were autotransplanted to the braquioradial muscle of the left forearm. After a first phase of hypocalcemia (hungry-bone syndrome), treated with calcium and calcitriol, the calcium levels stabilized. The question is whether she will experience some degree of recovery from her neurological problems, since her severely high calcium levels have been maintained for such a long time.
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PMID:Primary hyperparathyroidism in children: patient report and review of the literature. 964 34

Primary hyperparathyroidism is a fairly frequent pathologic diagnosis characterized by hypersecretion of parathyroid hormone, which results from adenomas in 80% to 85% of all cases. At clinical onset, the most common symptoms are hypercalcemia-related and some of them are pain due to kidney stones, polyuria, gastrointestinal, and neurologic disorders, whereas rarer symptoms are due to brown tumors and expansive lesions often found in fibrocystic osteitis. Brown tumors represent the terminal stage of the remodeling processes caused by an increased osteoclastic activity and fibroblastic proliferation during primary or secondary, albeit more seldom, hyperparathyroidism. The manifestation of primary hyperparathyroidism as skeletal disease has nearly disappeared in the last 2 decades. Cases are now most often diagnosed by the coincidental finding of asymptomatic hypercalcemia. Advanced screening techniques have made clinical evidence of bone disease rare. This article contains a case of brown tumor on the maxilla, palate, and mandible in addition to nephrectomy and proximal femur fracture, which are probably associated with primary hyperparathyroidism although less common nowadays. The diagnosis was suggested by the clinical history and confirmed by biochemical, radiologic, and histopathologic evidence. Excision of a parathyroid adenoma normalization of the metabolic status was then realized.
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PMID:Primary hyperparathyroidism presenting as a palatal and mandibular brown tumor. 1988 50