X-linked hypophosphatemic rickets: Diagnosis in adult and paucisymptomatic form. / Raquitismo hipofosfatémico ligado al cromosoma X: diagnóstico en la edad adulta y forma paucisintomática.
Reumatol Clin (Engl Ed)
; 17(2): 116-117, 2021 Feb.
Article
en En, Es
| MEDLINE
| ID: mdl-31707095
ABSTRACT
X-linked hypophosphataemic rickets (XLH) is the main form of hereditary rickets caused by mutation of the PHEX gene and occurs mainly in childhood. Clinically, it causes growth retardation and bone deformities; however, there are atypical forms of presentation that make diagnosis difficult. We present a case of XLH of late diagnosis and paucisymptomatic form with multiple fractures and greatly affecting quality of life, under treatment with traditional therapy for this disease.
Texto completo:
1
Base de datos:
MEDLINE
Tipo de estudio:
Diagnostic_studies
Idioma:
En
/
Es
Revista:
Reumatol Clin (Engl Ed)
Año:
2021
Tipo del documento:
Article