Abstract | OBJECTIVE: METHODS: We discuss the diagnosis, compare the clinical presentations of FHH and primary hyperparathyroidism, review the literature regarding patients who have presented with both disorders, and discuss management considerations. We also describe 2 patients who have both FHH (confirmed by genetic testing for a mutation in the gene encoding the calcium-sensing receptor [CASR]) and primary hyperparathyroidism. RESULTS: The occurrence of both FHH and primary hyperparathyroidism in the same patient has been reported in a few cases, including 2 patients described here, one of whom was documented to have a novel CASR mutation. In those with clinical sequelae of hyperparathyroidism, parathyroidectomy has led to reduction, but not normalization, of serum calcium levels. CONCLUSIONS:
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Authors | Leslie S Eldeiry, Daniel T Ruan, Edward M Brown, Jason L Gaglia, Jeffrey R Garber |
Journal | Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
(Endocr Pract)
2012 May-Jun
Vol. 18
Issue 3
Pg. 412-7
ISSN: 1934-2403 [Electronic] United States |
PMID | 22232026
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
- CASR protein, human
- Receptors, Calcium-Sensing
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Topics |
- Female
- Humans
- Hypercalcemia
(complications, congenital, etiology, genetics, physiopathology, prevention & control)
- Hyperparathyroidism, Primary
(complications, diagnosis, physiopathology, surgery)
- Male
- Middle Aged
- Mutation
- Parathyroidectomy
- Receptors, Calcium-Sensing
(genetics)
- Severity of Illness Index
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