Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kidney Int. 2024 May;105(5):927-929. doi: 10.1016/j.kint.2024.02.006.
Hereditary hypophosphatemic rickets with hypercalciuria is an autosomal recessive phosphate-wasting disorder, associated with kidney and skeletal pathologies, which is caused by pathogenic variants of SLC34A3. In this issue, Zhu et al. describe a pooled analysis of 304 individuals carrying SLC34A3 variants. Their study underscores the complexity of hereditary hypophosphatemic rickets with hypercalciuria, as kidney and bone phenotypes generally do not coexist, heterozygous carriers of SLC34A3 variants also can be affected, and the response to oral phosphate supplementation is dependent on the genetic status.
遗传性低血磷性佝偻病伴高钙尿症是一种常染色体隐性磷丢失性疾病，与肾脏和骨骼病理相关，由 SLC34A3 的致病变体引起。在本期杂志中，Zhu 等人描述了对携带 SLC34A3 变体的 304 个人进行的 pooled 分析。他们的研究强调了遗传性低血磷性佝偻病伴高钙尿症的复杂性，因为肾脏和骨骼表型通常不会共存，SLC34A3 变体的杂合携带者也可能受到影响，并且对口服磷酸盐补充的反应取决于遗传状态。
