Familial hypocalciuric hypercalcaemia--familial benign hypercalcaemia: a review.
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 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 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 کاملHypercalcaemia.
tivity, and cardiovascular risk factors in hypopituitary adults. J Clin Endocrinol Metab 1995;80:153–9. 12 Bulow B, Hagmar L, Mikoczy Z, Nordstrom CH, Erfurth EM. Increased cerebrovascular mortality in patients with hypopituitarism. Clin Endocrinol (Oxf) 1997;46:75–81. 13 Fowelin J, Attrall S, Lager I, Bengtsson BA. Effects of treatment with recombinant human growth hormone on insulin sensitivi...
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ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 1987
ISSN: 0032-5473
DOI: 10.1136/pgmj.63.744.835