FAMILIAL PRIMARY HYPERPARATHYROIDISM
نویسندگان
چکیده
منابع مشابه
Familial hyperparathyroidism.
Familial hyperparathyroidism (HPT) is a hereditary disease in which HPT is transmitted in an autosomal dominant fashion. It includes a variety of diseases: multiple endocrine neoplasia (MEN) type 1 and type 2, and familial isolated hyperparathyroidism (FIHPT). We screened for MEN 1 mutations by direct nucleotide sequencing of all protein-coding regions and identified the germline mutations of t...
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 isolated primary hyperparathyroidism due to HRPT2 mutation.
Primary hyperparathyroidism is a common endocrine disorder that is mostly caused by solitary tumors within the parathyroid glands. Characterized by early debut and higher frequency of multiple parathyroid masses, familial forms of primary hyperparathyroidism are caused by the already known mutations of: menin (MEN1 syndrome), RET proto-oncogene (MEN2 syndrome), HRPT2-parafibromin (hyperparathyr...
متن کاملFamilial isolated hyperparathyroidism
The investigation of familial isolated hyperparathyroidism (FIHP) has been greatly facilitated in recent years by the identification of the genes responsible for most cases of syndromic familial hyperparathyroidism (HPT). Kindreds with apparently isolated hyperparathyroidism have been evaluated with clinical, biochemical, imaging and gene mutational tests designed to recognize multiple endocrin...
متن کاملParathyroid carcinoma in familial hyperparathyroidism.
Two families with hereditary hyperparathyroidism are described. One member of each family developed a parathyroid carcinoma. In one case this recurred locally and metastasised. This patient showed hyperplasia of one of the three other parathyroid glands. It is possible that the different parathyroid lesions found in familial hyperparathyroidism may be the result of a progression from hyperplasi...
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ژورنال
عنوان ژورنال: The journal of the Japanese Practical Surgeon Society
سال: 1995
ISSN: 0386-9776
DOI: 10.3919/ringe1963.56.1325