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Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil
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 surge...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Endocrinologia e Metabologia
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528612/ https://www.ncbi.nlm.nih.gov/pubmed/33049132 http://dx.doi.org/10.20945/2359-3997000000296 |
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author | Moreira, Carolina Aguiar Costa, Tatiana M. R. Lemos Marques, Julia Vieira Oberger Sylvestre, Lucimary Almeida, Ana Cristina R. Maluf, Eliane M. C. P. Borba, Victória Z. C. |
author_facet | Moreira, Carolina Aguiar Costa, Tatiana M. R. Lemos Marques, Julia Vieira Oberger Sylvestre, Lucimary Almeida, Ana Cristina R. Maluf, Eliane M. C. P. Borba, Victória Z. C. |
author_sort | Moreira, Carolina Aguiar |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10528612 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Sociedade Brasileira de Endocrinologia e Metabologia |
record_format | MEDLINE/PubMed |
spelling | pubmed-105286122023-09-28 Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil Moreira, Carolina Aguiar Costa, Tatiana M. R. Lemos Marques, Julia Vieira Oberger Sylvestre, Lucimary Almeida, Ana Cristina R. Maluf, Eliane M. C. P. Borba, Victória Z. C. Arch Endocrinol Metab Original Article 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. Sociedade Brasileira de Endocrinologia e Metabologia 2020-10-09 /pmc/articles/PMC10528612/ /pubmed/33049132 http://dx.doi.org/10.20945/2359-3997000000296 Text en https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article Moreira, Carolina Aguiar Costa, Tatiana M. R. Lemos Marques, Julia Vieira Oberger Sylvestre, Lucimary Almeida, Ana Cristina R. Maluf, Eliane M. C. P. Borba, Victória Z. C. Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil |
title | Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil |
title_full | Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil |
title_fullStr | Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil |
title_full_unstemmed | Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil |
title_short | Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil |
title_sort | prevalence and clinical characteristics of x-linked hypophosphatemia in paraná, southern brazil |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528612/ https://www.ncbi.nlm.nih.gov/pubmed/33049132 http://dx.doi.org/10.20945/2359-3997000000296 |
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