Bone histomorphometric analysis in familial hypocalciuric hypercalcaemia.
نویسندگان
چکیده
منابع مشابه
Self 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 کاملA novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia.
OBJECTIVE The calcium-sensing receptor (CASR) has an important role in calcium homoeostasis by controlling PTH secretion and renal calcium handling. Inactivating mutations in the CASR gene (HGNC ID: 1514) cause familial hypocalciuric hypercalcaemia (FHH). We present a case of FHH patient to describe a novel mutation in the CASR. SUBJECTS AND METHODS A 34-year-old patient was referred because ...
متن کاملAssociation of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager.
OBJECTIVE Familial hypocalciuric hypercalcaemia (FHH) is clinically characterized by mild to moderate parathyroid hormone (PTH)-dependent hypercalcaemia, autosomal dominant pattern of inheritance, and normal to frankly reduced urinary calcium excretion in spite of a high serum calcium (clearance (Ca)/clearance (Cr)<0.01). FHH has a benign course and should be differentiated from primary hyperpa...
متن کاملRecurrent pancreatitis in a patient with familial hypocalciuric hypercalcaemia treated successfully with cinacalcet
UNLABELLED A 22-year-old female student presented with a history of recurrent pancreatitis. The commonest causes of pancreatitis, including drugs, gallstones, corticosteroids, excess alcohol and hypertriglyceridaemia, were excluded. She was found to have an elevated serum calcium level that was considered to be the cause of her pancreatitis, with a detectable serum parathyroid hormone (PTH). An...
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...
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ژورنال
عنوان ژورنال: Journal of Clinical Pathology
سال: 1983
ISSN: 0021-9746
DOI: 10.1136/jcp.36.11.1319