Carolina Aguiar Moreira1,2, Tatiana M R Lemos Costa3, Julia Vieira Oberger Marques3, Lucimary Sylvestre4,5, Ana Cristina R Almeida5,6, Eliane M C P Maluf7,8, Victória Z C Borba3. 1. Divisão de Endocrinologia (SEMPR), Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brasil, carolina.aguiar.moreira@gmail.com. 2. Lab PRO, Seção de Histomorfometria Óssea, Fundação Pró-Renal, Curitiba, PR, Brasil. 3. Divisão de Endocrinologia (SEMPR), Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brasil. 4. Serviço de Nefrologia Pediátrica, Hospital Pequeno Príncipe, Curitiba, PR, Brasil. 5. Escola de Medicina, Pontifícia Universidade Católica do Paraná, Curitiba, PR, Brasil. 6. Secretaria de Saúde do Paraná, Curitiba, PR, Brasil. 7. Universidade Positivo, Curitiba, PR, Brasil. 8. Programa de Pós-Graduação, Universidade Federal do Paraná, Curitiba, PR, Brasil.
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. 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.
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. 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.
Authors: Gabriel T Mindler; Andreas Kranzl; Alexandra Stauffer; Roland Kocijan; Rudolf Ganger; Christof Radler; Gabriele Haeusler; Adalbert Raimann Journal: Front Endocrinol (Lausanne) Date: 2021-09-27 Impact factor: 5.555