PRIMARY HYPERPARATHYROIDISM IN INFANCY ASSOCIATED WITH FAMILIAL HYPOCALCIURIC HYPERCALCEMIA
PRIMARY HYPERPARATHYROIDISM IN INFANCY ASSOCIATED WITH FAMILIAL HYPOCALCIURIC HYPERCALCEMIA
复制标题
婴儿期原发性甲状旁腺功能亢进症与家族性低钙血症相关
DOI：
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发表时间：
1983
期刊：
影响因子：
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通讯作者：
K. Lockwood
中科院分区：
文献类型：
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作者：
K. Lillquist;N. Illum;B. Jacobsen;K. Lockwood
摘要。原发性甲状旁腺功能亢进症的临床和生化证据（prim. HPT）的报告，在一个婴儿张力减退，喂养问题和便秘从出生。在12个月大时接受部分甲状旁腺切除术后，临床状况有所改善。在她的妹妹，母亲和其他三个母系亲属家族性低尿钙高钙血症（FHH）随后被证明。尽管血清总钙和离子钙增加，血清甲状旁腺激素浓度正常，尿钙排泄量低，肾环腺苷酸排泄量正常，但所有患者临床均健康。我们的病人在甲状旁腺切除术后也有类似的发现。提示FHH为常染色体显性遗传。因此证明，患有FHH的母亲可能会生下患有FHH的健康儿童以及患有FHH的婴儿。与FHH相关的HPT。
ABSTRACT. Clinical and biochemical evidence of primary hyperparathyroidism (prim. HPT) is reported in an infant with hypotonia, feeding problems and constipation from birth. Following a partial parathyroidectomy at the age of 12 months, the clinical condition improved. In her sister, mother and three other maternal relatives a familial hypocalciuric hypercalcemia (FHH) was subsequently demonstrated. All were clinically healthy in spite of increased total and ionized serum calcium, normal serum parathyroid hormone concentration, low urinary calcium excretion and normal renal excretion of cyclic AMP. Similar findings appeared in our patient after parathyroidectomy. An autosomal dominant inheritance of FHH is suggested. It is thus demonstrated, that a mother with FHH may give birth to healthy children with FHH as well as to infants with prim. HPT associated with FHH.