4q33-qter缺失与吸收性高钙尿症：两名非亲缘关系女孩的病例报告
4q33-qter deletion and absorptive hypercalciuria: report of two unrelated girls.
作者信息
Imamura K, Tonoki H, Wakui K, Fukushima Y, Sasaki S, Yausda K, Takekoshi Y, Tochimaru H
机构信息
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
出版信息
Am J Med Genet. 1998 Jun 16;78(1):52-4.
We report on two unrelated girls with multiple malformations, each of whom had a der(4)t(4;?)(q33;?) chromosome--an unbalanced translocation chromosome with deletion of the 4q33-qter segment and addition of a segment of an unknown chromosome. One of the two girls had asymptomatic kidney stones. Both had excess urinary calcium excretion (0.53 and 0.84 mg/mg creatinine, respectively), exaggerated excretion on oral calcium load, and reduced but excessive excretion on restricted calcium intake. The urinary calcium excretion of their parents was normal. Both girls were thus diagnosed to have sporadic absorptive hypercalciuria. It was deduced that the 4q33-qter segment contains the putative gene for absorptive hypercalciuria.
我们报告了两名患有多种畸形的无血缘关系女孩，她们每人都有一条der(4)t(4;?)(q33;?)染色体——一条不平衡易位染色体，缺失了4q33-qter片段，并添加了一段未知染色体的片段。两名女孩中的一名有无症状肾结石。两人的尿钙排泄均过多（分别为0.53和0.84毫克/毫克肌酐），口服钙负荷后排泄量增加，而限制钙摄入时排泄量减少但仍过多。她们父母的尿钙排泄正常。因此，两名女孩均被诊断为散发性吸收性高钙尿症。据推测，4q33-qter片段包含吸收性高钙尿症的推定基因。
Zotero 插件