| Theme | Genome medicine and novel therapeutic targets of kidney diseases | |
|---|---|---|
| Title | Genetic diagnosis and management of hereditary abnormalities in phosphate metabolism and magnesium metabolism | |
| Publish Date | 2018/01 | |
| Author | Tomoko Horinouchi | Department of Pediatrics, Kobe University Hospital |
| Author | Kandai Nozu | Department of Pediatrics, Kobe University Hospital |
| Author | Kazumoto Iijima | Department of Pediatrics, Kobe University Hospital |
| [ Summary ] | Hereditary abnormalities related to phosphate metabolism or magnesium metabolism may be difficult to diagnose because these are relatively rare disorders and exhibit a variety of clinical presentations. FGF23 deficiency/resistance or PTH deficiency/resistance may lead to hyperphosphatemia. In contrast, FGF23 excess or 1,25(OH)2D deficiency/resistance, as well as tubular phosphate wasting may cause hypophosphatemia. Hereditary hypomagnesemia is caused by abnormities in proteins associated with Mg reabsorption in the proximal tubule or thick ascending limb. Hereditary abnormalities with phosphate metabolism or magnesium metabolism have many causative genes and are sometimes difficult to diagnose. Next generation sequencing analysis may be able to help resolve clinical difficulties in achieving accurate diagnoses. | |