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
Artículo
en Inglés
| LILACS
| ID: biblio-1142201
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 and methods: 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.
Texto completo:
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Índice:
LILACS (Américas)
Asunto principal:
Enfermedades Genéticas Ligadas al Cromosoma X
/
Raquitismo Hipofosfatémico Familiar
Tipo de estudio:
Estudio observacional
/
Estudio de prevalencia
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Adolescente
/
Niño
/
Humanos
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Arch. endocrinol. metab. (Online)
Asunto de la revista:
Endocrinologia
/
Metabolismo
Año:
2020
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Hospital Pequeno Príncipe/BR
/
Pontifícia Universidade Católica do Paraná/BR
/
Universidade Federal do Paraná/BR
/
Universidade Positivo/BR
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