Familial Hypocalciuric Hypercalcemia as an Atypical Form of Primary Hyperparathyroidism
نویسندگان
چکیده
منابع مشابه
Familial hypocalciuric hypercalcemia: an atypical presentation.
9. Jammah AA, Driedger A, Rachinsky I. Incidental finding of ovarian teratoma on post-therapy scan for papillary thyroid cancer and impact of SPECT/CT imaging. Arq Bras Endocrinol Metab. 2011;55:490--3. 10. Van Wijk JPH, Broekhuizen-de Gast HS, Smits AJJ, Schipper MEI, Zelissen PMJ. Scintigraphic detection of benign ovarian teratoma after total thyroidectomy and radioactive iodine for different...
متن کاملFamilial hypocalciuric hypercalcemia: An atypical presentation
9. Jammah AA, Driedger A, Rachinsky I. Incidental finding of ovarian teratoma on post-therapy scan for papillary thyroid cancer and impact of SPECT/CT imaging. Arq Bras Endocrinol Metab. 2011;55:490--3. 10. Van Wijk JPH, Broekhuizen-de Gast HS, Smits AJJ, Schipper MEI, Zelissen PMJ. Scintigraphic detection of benign ovarian teratoma after total thyroidectomy and radioactive iodine for different...
متن کاملSelf limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia.
A boy is described who presented aged 7 weeks with severe biochemical and radiological neonatal hyperparathyroidism that had completely resolved by the age of 6 months. His mother had a normal serum calcium concentration but his father, paternal aunt, and paternal cousin all had a raised serum calcium due to familial hypocalciuric hypercalcaemia.
متن کاملFamilial hypocalciuric hypercalcemia and calcium sensing receptor.
Familial hypocalciuric hypercalcemia (FHH) is a lifelong, benign autosomal dominant disease characterized by hypercalcemia, normal to increased parathyroid hormone level, and a relatively low renal calcium excretion. Inactivation of the calcium-sensing receptor in heterozygous patients results in FHH, while in homozygous patients as well as in compound heterozygous or dominant negative heterozy...
متن کاملA novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
OBJECTIVE The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene. METHOD We herein report a 60-year-old German patient who was referred for hypercalcemia and increased PTH levels fou...
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ژورنال
عنوان ژورنال: Journal of Bone and Mineral Research
سال: 2017
ISSN: 0884-0431
DOI: 10.1002/jbmr.3339