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Mucopolysaccharidosis VII in Brazil: natural history and clinical findings

BACKGROUND: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. METHODS: We conducted a case se...

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Autores principales: Giugliani, Roberto, Barth, Anneliese Lopes, Dumas, Melissa Rossi Calvão, da Silva Franco, José Francisco, de Rosso Giuliani, Liane, Grangeiro, Carlos Henrique Paiva, Horovitz, Dafne Dain Gandelman, Kim, Chong Ae, de Araújo Leão, Emilia Katiane Embiruçu, de Medeiros, Paula Frassinetti Vasconcelos, Miguel, Diego Santana Chaves Geraldo, Moreira, Maria Espírito Santo Almeida, dos Santos, Helena Maria Guimarães Pimentel, da Silva, Luiz Carlos Santana, da Silva, Luiz Roberto, de Souza, Isabel Neves, Nalin, Tatiele, Garcia, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141134/
https://www.ncbi.nlm.nih.gov/pubmed/34022924
http://dx.doi.org/10.1186/s13023-021-01870-w
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author Giugliani, Roberto
Barth, Anneliese Lopes
Dumas, Melissa Rossi Calvão
da Silva Franco, José Francisco
de Rosso Giuliani, Liane
Grangeiro, Carlos Henrique Paiva
Horovitz, Dafne Dain Gandelman
Kim, Chong Ae
de Araújo Leão, Emilia Katiane Embiruçu
de Medeiros, Paula Frassinetti Vasconcelos
Miguel, Diego Santana Chaves Geraldo
Moreira, Maria Espírito Santo Almeida
dos Santos, Helena Maria Guimarães Pimentel
da Silva, Luiz Carlos Santana
da Silva, Luiz Roberto
de Souza, Isabel Neves
Nalin, Tatiele
Garcia, Daniel
author_facet Giugliani, Roberto
Barth, Anneliese Lopes
Dumas, Melissa Rossi Calvão
da Silva Franco, José Francisco
de Rosso Giuliani, Liane
Grangeiro, Carlos Henrique Paiva
Horovitz, Dafne Dain Gandelman
Kim, Chong Ae
de Araújo Leão, Emilia Katiane Embiruçu
de Medeiros, Paula Frassinetti Vasconcelos
Miguel, Diego Santana Chaves Geraldo
Moreira, Maria Espírito Santo Almeida
dos Santos, Helena Maria Guimarães Pimentel
da Silva, Luiz Carlos Santana
da Silva, Luiz Roberto
de Souza, Isabel Neves
Nalin, Tatiele
Garcia, Daniel
author_sort Giugliani, Roberto
collection PubMed
description BACKGROUND: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. METHODS: We conducted a case series report which included retrospective data from all MPS VII patients diagnosed through the “MPS Brazil Network” who were known to be alive in 2020 in Brazil (N = 13). Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. RESULTS: The majority of the patients were from the Northeast region of Brazil. Among the signs and symptoms that raised the clinical suspicion of MPS, coarse face was the most frequent; 58% of the patients had a history of non-immune hydrops fetalis. All the subjects presented short neck and trunk. The majority presented typical phenotypical signs of MPS disorders. They all presented neurodevelopmental delay and cognitive impairment. About half of this cohort had knees deformities. Dysostosis multiplex was identified in almost all patients and cardiomyopathy was less frequent than observed in other types of MPSs. The mean age at diagnosis was 5 years, ranging from 1 to 14 years. Almost all patients (12/13) were homozygous for the c.526C>T (p.Leu176Phe) mutation. A novel variant of the GUSB gene was found, the c.875T>C (p.Leu292Pro), in a compound heterozygous with the c.526C>T (p.Leu176Phe) variant. CONCLUSIONS: This case series is the biggest data collection of MPS VII patients alive in Latin America. The overall clinical picture of the MPS VII patients is very similar to other MPS disorders, including a spectrum of severity and delayed diagnosis.
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spelling pubmed-81411342021-05-25 Mucopolysaccharidosis VII in Brazil: natural history and clinical findings Giugliani, Roberto Barth, Anneliese Lopes Dumas, Melissa Rossi Calvão da Silva Franco, José Francisco de Rosso Giuliani, Liane Grangeiro, Carlos Henrique Paiva Horovitz, Dafne Dain Gandelman Kim, Chong Ae de Araújo Leão, Emilia Katiane Embiruçu de Medeiros, Paula Frassinetti Vasconcelos Miguel, Diego Santana Chaves Geraldo Moreira, Maria Espírito Santo Almeida dos Santos, Helena Maria Guimarães Pimentel da Silva, Luiz Carlos Santana da Silva, Luiz Roberto de Souza, Isabel Neves Nalin, Tatiele Garcia, Daniel Orphanet J Rare Dis Research BACKGROUND: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. METHODS: We conducted a case series report which included retrospective data from all MPS VII patients diagnosed through the “MPS Brazil Network” who were known to be alive in 2020 in Brazil (N = 13). Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. RESULTS: The majority of the patients were from the Northeast region of Brazil. Among the signs and symptoms that raised the clinical suspicion of MPS, coarse face was the most frequent; 58% of the patients had a history of non-immune hydrops fetalis. All the subjects presented short neck and trunk. The majority presented typical phenotypical signs of MPS disorders. They all presented neurodevelopmental delay and cognitive impairment. About half of this cohort had knees deformities. Dysostosis multiplex was identified in almost all patients and cardiomyopathy was less frequent than observed in other types of MPSs. The mean age at diagnosis was 5 years, ranging from 1 to 14 years. Almost all patients (12/13) were homozygous for the c.526C>T (p.Leu176Phe) mutation. A novel variant of the GUSB gene was found, the c.875T>C (p.Leu292Pro), in a compound heterozygous with the c.526C>T (p.Leu176Phe) variant. CONCLUSIONS: This case series is the biggest data collection of MPS VII patients alive in Latin America. The overall clinical picture of the MPS VII patients is very similar to other MPS disorders, including a spectrum of severity and delayed diagnosis. BioMed Central 2021-05-22 /pmc/articles/PMC8141134/ /pubmed/34022924 http://dx.doi.org/10.1186/s13023-021-01870-w Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Giugliani, Roberto
Barth, Anneliese Lopes
Dumas, Melissa Rossi Calvão
da Silva Franco, José Francisco
de Rosso Giuliani, Liane
Grangeiro, Carlos Henrique Paiva
Horovitz, Dafne Dain Gandelman
Kim, Chong Ae
de Araújo Leão, Emilia Katiane Embiruçu
de Medeiros, Paula Frassinetti Vasconcelos
Miguel, Diego Santana Chaves Geraldo
Moreira, Maria Espírito Santo Almeida
dos Santos, Helena Maria Guimarães Pimentel
da Silva, Luiz Carlos Santana
da Silva, Luiz Roberto
de Souza, Isabel Neves
Nalin, Tatiele
Garcia, Daniel
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
title Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
title_full Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
title_fullStr Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
title_full_unstemmed Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
title_short Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
title_sort mucopolysaccharidosis vii in brazil: natural history and clinical findings
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141134/
https://www.ncbi.nlm.nih.gov/pubmed/34022924
http://dx.doi.org/10.1186/s13023-021-01870-w
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