Hamed I A, Czerwinski A W, Coats B, Kaufman C, Altmiller D H
Am J Med. 1979 Sep;67(3):385-91. doi: 10.1016/0002-9343(79)90783-6.
Hypercalciuria was considered as a secondary condition when associated with familial renal tubular acidosis. Later studies suggested that hypercalciuria could lead to renal tubular acidosis and nephrocalcinosis. Selected members of a family spanning five generations were studied. Renal tubular acidosis was present in eight subjects in three consecutive generations. Increased 24-hour urinary calcium excretion was present in nine subjects in three consecutive generations, alone in the younger generation, and in combination with renal tubular acidosis and nephrocalcinosis in the older generation. Calcium loading tests showed the absorptive nature of hypercalciuria in nine of 18 subjects studied. This report suggests that in this family the absorptive hypercalciuria is an autosomal dominant genetic defect with complete penetrance and variable expressivity which leads to renal tubular acidosis and nephrocalcinosis.
高钙尿症与家族性肾小管酸中毒相关时被视为一种继发性病症。后来的研究表明，高钙尿症可导致肾小管酸中毒和肾钙质沉着症。对一个延续五代的家族中的特定成员进行了研究。连续三代中有八名受试者患有肾小管酸中毒。连续三代中有九名受试者24小时尿钙排泄增加，年轻一代单独出现，年长一代则与肾小管酸中毒和肾钙质沉着症同时出现。钙负荷试验显示，在18名研究对象中有9名的高钙尿症具有吸收性。本报告表明，在这个家族中，吸收性高钙尿症是一种常染色体显性遗传缺陷，具有完全外显率和可变表达性，可导致肾小管酸中毒和肾钙质沉着症。
