[Clinical study of two kindreds of familial hypocalciuric hypercalcemia].
نویسندگان
چکیده
منابع مشابه
Familial 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 کاملClinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series
INTRODUCTION Familial hypocalciuric hypercalcemia is a rare benign autosomal-dominant genetic disease with high penetrance. In most cases, patients with familial hypocalciuric hypercalcemia experience unspecific physical discomfort or asymptomatic disease. These patients are typically characterized by mild to moderately increased blood ionized calcium and a normal to slightly elevated serum par...
متن کاملA novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report
INTRODUCTION Familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene. Disorders of calcium metabolism are very common in the elderly, and they can coexist with familial hypocalciuric hypercalcemia in affected families. CASE PRESENTATION We describe an Irish ...
متن کاملIdentification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia.
OBJECTIVE Identification and characterization of calcium-sensing receptor (CASR) mutations in four unrelated Italian kindreds with familial hypocalciuric hypercalcemia. DESIGN Clinical evaluation and genetic analysis of CASR gene. Functional characterization of mutated CASRs. METHODS Direct sequencing of CASR gene in genomic DNA. Studies of CASR-mediated increases in cytosolic calcium conce...
متن کاملFamilial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.
Familial isolated hyperparathyroidism (FIHP) can result occasionally from the incomplete expression of a syndromic form of familial hyperparathyroidism (HPT), specifically multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric hypercalcemia, or the hyperparathyroidism-jaw tumor syndrome (HPT-JT). The cause of FIHP has not been identified in the majority of families. We investigated ...
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عنوان ژورنال:
- Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine
دوره 76 1 شماره
صفحات -
تاریخ انتشار 1987