Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0221002 (
primary hyperparathyroidism
)
4,921
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A case is presented of a woman with
primary hyperparathyroidism
due to a parathyroid adenoma with deep mediastinal localization successfully treated surgically. The disease was manifested at the beginning with joint pains only, followed by extreme bone, renal and metabolic disorders endangering the life of the patient. The unusually severe sceleton decalcification is linked with the functional exhaustion of the calcitonin C producing cells. The changes in these cells in the resected thyroid tissue were discrepant with the hypercalciemia. A special feature of the case is the combination of parathyroid adenoma with a number of dysmorphic signs, with a persistent thymus and beta-
thalassemia
(heterozygotic form) with familial predisposition--
thalassemia
of the mother and malformations of the patient's child. On this basis the authors presume a genetic determination of the basic disease similar to other forms of
primary hyperparathyroidism
.
...
PMID:[A combination of ectopic parathyroid adenoma and thalassemia with manifestations of extreme hyperparathyroidism]. 274 49
