Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.
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DOI：
10.1002/ajmg.a.33832
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发表时间：
2011-03
期刊：
影响因子：
--
通讯作者：
Estrada E
中科院分区：
文献类型：
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作者：
Phulwani P;Bergwitz C;Jaureguiberry G;Rasoulpour M;Estrada E
遗传性低磷酸盐血症佝偻病伴高钙尿症（HHRH）的特征是佝偻病、高磷酸盐尿症、低磷酸盐血症、1，25-二羟维生素D升高、胃肠道钙吸收增加和高钙尿症。血清钙、25-羟维生素D和PTH水平正常。在这里，我们描述了一个男孩与HHRH，肾结石，和复合杂合性的一个先前描述的突变（g.4225_50del）和一个新的剪接突变（g.1226G>A）在SLC 34 A3，基因编码肾钠-磷酸盐共转运蛋白NaPi-IIc。患者的母亲和祖母是g.4225_50del的携带者，并且都有与高钙尿症和升高的1，25-二羟维生素D相关的肾结石病史。他的三个兄弟姐妹（2-6岁）也是g.4225_50del的携带者，患有高钙尿症，但到目前为止，他们的肾脏超声检查正常。因此，SLC 34 A3/NaPi-IIc突变似乎与表现时的可变表型变化相关，这可能包括复发性肾结石。
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient’s mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2–6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis.