Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil
Arch. endocrinol. metab. (Online)
; 64(6): 796-802, Nov.-Dec. 2020. tab, graf
Article
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| LILACS
| ID: biblio-1142201
Biblioteca responsable:
BR1.1
ABSTRACT
ABSTRACT Objective:
The aim of this cross-sectional study was to estimate the prevalence of XLH in Paraná, a state in southern Brazil, and report the clinical features and complications of the disease. Materials andmethods:
We invited all endocrinologists (n = 205), nephrologists (n = 221), orthopedic surgeons (n = 1020), and pediatricians (n = 1000) in Paraná to fill out an electronic survey with information on patients with X-linked hypophosphatemia (XLH), and searched the records of the state's health department for all calcitriol prescriptions in 2018.Results:
In all, 244 (10%) specialists responded to the email, of whom 18 (7.4%) reported to be taking care of patients with XLH and answered the online survey. A total of 57 patients with XLH were identified (prevalence 5 per million inhabitants). The median age at diagnosis was 22 years, and 42.2% were children and adolescents. Fifteen patients had genetic testing showing a PHEX mutation. Overall, 91.2% had bone deformities, 30.8% had a history of fragility fractures, and 22.4% had renal complications.Conclusion:
This study demonstrated a prevalence of XLH of 5 cases per million inhabitants in the state of Paraná, a rate lower than the one reported in other countries. Manifestations of renal calcification and bone fragility were frequent among the patients. This is the first epidemiological study evaluating the prevalence and clinical presentation of XLH in Latin America.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Enfermedades Genéticas Ligadas al Cromosoma X
/
Raquitismo Hipofosfatémico Familiar
Tipo de estudio:
Observational_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Child
/
Humans
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Arch. endocrinol. metab. (Online)
Asunto de la revista:
ENDOCRINOLOGIA
/
METABOLISMO
Año:
2020
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Brasil