{"title":"Genetic causes of hypophosphatemia.","authors":"Nuria Puente, Pablo Solis, Jose A Riancho","doi":"10.23736/S0026-4806.24.09198-5","DOIUrl":null,"url":null,"abstract":"<p><p>Phosphate is a key component of mineralized tissues and is also part of many organic compounds. Phosphorus homeostasis depends especially upon intestinal absorption, and renal excretion, which are regulated by various hormones, such as PTH, 1,25-dihydroxyvitamin D, and fibroblast growth factor 23. In this review we provide an update of several genetic disorders that affect phosphate transporters through cell membranes or the phosphate-regulating hormones, and, consequently, result in hypophosphatemia.</p>","PeriodicalId":94143,"journal":{"name":"Minerva medica","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Minerva medica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.23736/S0026-4806.24.09198-5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/9 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract
Phosphate is a key component of mineralized tissues and is also part of many organic compounds. Phosphorus homeostasis depends especially upon intestinal absorption, and renal excretion, which are regulated by various hormones, such as PTH, 1,25-dihydroxyvitamin D, and fibroblast growth factor 23. In this review we provide an update of several genetic disorders that affect phosphate transporters through cell membranes or the phosphate-regulating hormones, and, consequently, result in hypophosphatemia.
磷酸盐是矿化组织的重要组成部分，也是许多有机化合物的组成部分。磷的平衡主要依赖于肠道吸收和肾脏排泄，而肠道吸收和肾脏排泄又受多种激素的调节，如磷酸盐转换酶（PTH）、1,25-二羟维生素 D 和成纤维细胞生长因子 23。在本综述中，我们将介绍几种遗传性疾病的最新情况，这些疾病通过细胞膜或磷酸盐调节激素影响磷酸盐转运体，从而导致低磷血症。
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