Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0221002 (
primary hyperparathyroidism
)
4,921
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The patient was a 27-year-old woman who was clinically diagnosed with
tuberous sclerosis complex
(
TSC
). She developed hypercalcemia and hypophosphatemia at age 23. In a detailed examination at age 26, she was diagnosed with
primary hyperparathyroidism
due to parathyroid adenoma. After undergoing parathyroidectomy, her hypercalcemia and hypophosphatemia rapidly normalized. Subsequent genetic testing revealed mutations of the TSC1 gene.
TSC
with concomitant parathyroid adenoma is extremely rare; only three cases have been reported worldwide. However, each of these cases was diagnosed clinically. Therefore, our case is the first to be diagnosed with genetic testing.
...
PMID:A case of tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma: a case report. 2588 54
