In:
Journal für Klinische Endokrinologie und Stoffwechsel, Springer Science and Business Media LLC, Vol. 15, No. 2 ( 2022-07), p. 63-68
Abstract:
X‑linked hypophosphatemic rickets (XLH, OMIM # 307800) is a rare disease of bone metabolism associated with marked phosphate loss and often severe impairment of quality of life. By an as yet unexplained pathomechanism, inhibiting mutations in the endopeptidase PHEX result in increased production of fibroblast growth factor 23 (FGF23). This master regulator of phosphate balance causes pathologically increased renal phosphate excretion and impaired vitamin D activation. Rickets, growth disorders, and lower limb deformities are among the leading symptoms during childhood and adolescence. In adulthood, symptoms include osteoarthritis, soft tissue calcifications, enthesitis, and bone mineralization disorders (“pseudofractures”), often causing a profound burden of disease. Due to the wide spectrum of symptoms, including neurosurgical complications such as syringomyelia and Chiari malformations, early diagnosis and multidisciplinary management in expert centers is essential for patient care.
Type of Medium:
Online Resource
ISSN:
1998-7773
,
1998-7781
DOI:
10.1007/s41969-022-00163-2
Language:
German
Publisher:
Springer Science and Business Media LLC
Publication Date:
2022
detail.hit.zdb_id:
2592092-3
Permalink