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
Dans Anglais
| 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 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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Maladies génétiques liées au chromosome X
/
Rachitisme hypophosphatémique familial
Type d'étude:
Étude observationnelle
/
Étude de prévalence
/
Étude pronostique
/
Facteurs de risque
Limites du sujet:
Adolescent
/
Enfant
/
Humains
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
Arch. endocrinol. metab. (Online)
Thème du journal:
Endocrinologie
/
Métabolisme
Année:
2020
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Hospital Pequeno Príncipe/BR
/
Pontifícia Universidade Católica do Paraná/BR
/
Universidade Federal do Paraná/BR
/
Universidade Positivo/BR
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