[X-linked hypophosphatemic osteomalacia (XLH): Study of 5 adult patients]. / Osteomalacia hipofosfatémica ligada al cromosoma X (XLH): análisis de 5 pacientes adultos.
Med Clin (Barc)
; 160(5): 218-221, 2023 03 10.
Article
em En, Es
| MEDLINE
| ID: mdl-36517274
ABSTRACT
BACKGROUND:
X-linked hypophosphatemic osteomalacia (XLH) is an inherited disorder that can cause highly disabling musculoskeletal comorbidities in adulthood.OBJECTIVE:
To analyze the clinical-radiological characteristics, comorbidities and complications associated with the disease and treatment in an adult population with XLH.METHOD:
Retrospective study of patients treated for XLH in a rheumatology department in the last 10 years, evaluating the clinical-radiological findings, comorbidities and associated complications.RESULTS:
Five patients between 39 and 75 years of age were included. All had short stature, osteoarticular symptoms and radiological enthesopathy. Four patients had early degenerative arthropathy of the knees and hips, and dental alterations associated with their disease. All patients older than 50 years required some type of prosthetic replacement. Two patients had femoral stress fractures, one had renal lithiasis and another developed tertiary hyperparathyroidism.CONCLUSIONS:
Musculoskeletal manifestations are frequent and disabling in the adult population with XLH, so proper diagnosis and management from childhood are essential to prevent the development of complications in adulthood associated with this disease.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Osteomalacia
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Raquitismo Hipofosfatêmico Familiar
Tipo de estudo:
Observational_studies
/
Risk_factors_studies
Limite:
Adult
/
Child
/
Humans
Idioma:
En
/
Es
Revista:
Med Clin (Barc)
Ano de publicação:
2023
Tipo de documento:
Article