A Brazilian galactosialidosis patient given renal transplantation: A case report
Abstract
Summary: We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for renal failure. She was found to have low levels of both β‐galactosidase and α‐neuraminidase in fibroblasts and to be a carrier of two novel mutations in the PPGB gene (p.G57V and p.R396W). She received a renal allograft at the age of 3 years 4 months. Transplantation was successful and graft function remains excellent after 6 years. However, the patient shows signs of progression of her primary disease. To our knowledge, she is the first GS patient to be given renal transplantation worldwide. We propose that renal transplantation should be considered as a therapeutic option for the treatment of severe renal complications of GS.
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Late infantile GS comprises a distinct group characterized by mild or absent cognitive disability, with symptoms usually presenting within the first 2 years of life and slow progression into adulthood; many such patients survive into adulthood.
“The late infantile type of GS comprises a distinct group of patients characterized by mild or absent cognitive disability.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [12]
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Galactosialidosis: review and analysis of CTSA gene mutations
Caciotti, A., Catarzi, S., Tonin, R., Lugli, L., Perez, C. R., Michelakakis, H., Mavridou, I., Donati, M. A., Guerrini, R., d’Azzo, A., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-114 · Cited by 73 · see citing works
Self-citationGalactosialidosis: historic aspects and overview of investigated and emerging treatment options
Annunziata, I., & d’Azzo, A. (2017) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1266933 · Cited by 50 · see citing works
Self-citation
- Authors
- Kiss, A., Zen, P. R. G., Bittencourt, V., Paskulin, G. A., Giugliani, R., d'Azzo, A., & Schwartz, I. V.
- Affiliations
- Universidade Federal de Ciências da Saúde de Porto Alegre (BR)
- Hospital de Clínicas de Porto Alegre (BR)
- Universidade Federal do Rio Grande do Sul (BR)
- Department of Genetics and Tumor Cell Biology St Jude Children's Research Hospital Memphis Tennessee USA
- Corresponding author
- Schwartz, I. V.
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2008-10-21
- Volume
- 31
- Issue
- S2
- Pages
- 205-208
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W2133736814
- Cited by
- 8
- References
- 0
- Citations by year
- 2025: 1 · 2022: 1 · 2021: 1 · 2020: 1 · 2018: 1 · 2016: 1 · 2013: 2
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- galactosialidosis, kidney transplantation, beta-galactosidase deficiency, lysosomal storage disease, renal failure, pediatric patients, graft function
- MeSH terms
- Brazil, Child, Child, Preschool, Female, Graft Survival, Humans, Kidney Failure, Chronic, Mutation, Phenotype, Time Factors, Kidney Transplantation, Lysosomal Storage Diseases, Treatment Outcome, Disease Progression, Living Donors, Genetic Predisposition to Disease, Cathepsin A
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