The prevalence of familial hypocalciuric hypercalcemia

被引:47
作者
Hinnie, J [1 ]
Bell, E
McKillop, E
Gallacher, S
机构
[1] Paisley Royal Alexandra Hosp, Med Directorate, Dept Med, Paisley PA2 9PN, Renfrew, Scotland
[2] Glasgow Royal Infirm, Dept Biochem, Glasgow G4 0SF, Lanark, Scotland
[3] Univ Glasgow, Glasgow Royal Infirm, Dept Med, Glasgow G4 0SF, Lanark, Scotland
[4] So Gen Hosp, Med Unit, Glasgow G51 4TF, Lanark, Scotland
关键词
familial hypocalciuric hypercalcemia; familial benign hypercalcemia; hypercalcamia; hyperparathyroidism;
D O I
10.1007/s002230001201
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Familial hypocalciuric hypercalcamia is said to be an extremely rare condition but is clinically important because it can be confused with primary hyperparathyroidism. The biochemical features of the two conditions are similar, but the former is benign while the latter can have serious clinical consequences with patients occasionally proceeding to parathyroidectomy. It is therefore important to differentiate accurately between the two. With this in mind it would be useful to know the prevalence of familial hypocalciuric hypercalcemia when considering the differential diagnosis of primary hyperparathyroidism. However. as far as we are aware, no estimate of the prevalence of this condition can be found in the literature. We describe how an estimate was made of the prevalence of familial hypocalciuric hypercalcemia in the west of Scotland. We estimate the prevalence to be 1 in 78,000 at least.
引用
收藏
页码:216 / 218
页数:3
相关论文
共 12 条
[1]  
BOONSTRA CE, 1971, AM J CLIN PATHOL, V55, P523
[2]   CLONING AND CHARACTERIZATION OF AN EXTRACELLULAR CA2+-SENSING RECEPTOR FROM BOVINE PARATHYROID [J].
BROWN, EM ;
GAMBA, G ;
RICCARDI, D ;
LOMBARDI, M ;
BUTTERS, R ;
KIFOR, O ;
SUN, A ;
HEDIGER, MA ;
LYTTON, J ;
HEBERT, SC .
NATURE, 1993, 366 (6455) :575-580
[4]   FAMILIAL BENIGN HYPERCALCEMIA [J].
FOLEY, TP ;
ARNAUD, CD ;
HARRISON, HE ;
HARRISON, HC .
JOURNAL OF PEDIATRICS, 1972, 81 (06) :1060-+
[5]  
HEATH H, 1993, AM J HUM GENET, V53, P193
[6]   Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13 [J].
Lloyd, SE ;
Pannett, AAJ ;
Dixon, PH ;
Whyte, MP ;
Thakker, RV .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) :189-195
[7]  
MARX SJ, 1982, NEW ENGL J MED, V307, P416
[8]   THE HYPOCALCIURIC OR BENIGN VARIANT OF FAMILIAL HYPERCALCEMIA - CLINICAL AND BIOCHEMICAL FEATURES IN FIFTEEN KINDREDS [J].
MARX, SJ ;
ATTIE, MF ;
LEVINE, MA ;
SPIEGEL, AM ;
DOWNS, RW ;
LASKER, RD .
MEDICINE, 1981, 60 (06) :397-412
[9]   FAMILIAL HYPOCALCIURIC HYPERCALCEMIA [J].
MARX, SJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1980, 303 (14) :810-811
[10]   MUTATIONS IN THE HUMAN CA2+-SENSING RECEPTOR GENE CAUSE FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVERE HYPERPARATHYROIDISM [J].
POLLAK, MR ;
BROWN, EM ;
CHOU, YHW ;
HEBERT, SC ;
MARX, SJ ;
STEINMANN, B ;
LEVI, T ;
SEIDMAN, CE ;
SEIDMAN, JG .
CELL, 1993, 75 (07) :1297-1303