Familial X-chromosome linked hypophosphatemic rickets: Report of a case

Authors

DOI:

https://doi.org/10.35663/amp.2023.401.2431

Keywords:

Rickets, Hypophosphatemia, X Chromosome

Abstract

Phosphorus is regulated by the kidney and bone system orchestrated mainly by the action of parathormone (PTH) and a molecule recently described as fibroblast growth factor 23 (FGF-23). We present the cases of two mother-son patients with X-linked hypophosphatemic rickets. Hypophosphatemic rickets is part of a group of tubulopathies characterized by hyperphosphaturia. A genetic study was performed, identifying a mutation in the PHEX gene (pathogenic splicing-type variant in hemizygosis), mutation previously described as HGMD CS126536. Loss-of-function mutation of the PHEX gene leads to increased FGF-23. PHEX degrades FGF-23 into inactive fragments, preventing excessive phosphate excretion and the development of hypophosphatemia. In a patient with hypophosphatemia not dependent on the hormone PTH or vitamin D and of familial presentation, the diagnosis of X-linked hypophosphatemic rickets should be considered.

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Published

2023-04-30

Issue

Section

CASE REPORTS

How to Cite

1.
Familial X-chromosome linked hypophosphatemic rickets: Report of a case. Acta Med Peru [Internet]. 2023 Apr. 30 [cited 2024 Dec. 25];40(1). Available from: https://amp.cmp.org.pe/index.php/AMP/article/view/2431