Integral kidney function assessment in pediatric patients with glycogen storage diseases
IntroductionGlycogen storage diseases (GSDs) are a group of hereditary metabolic disorders with variable clinical manifestations, depending on the enzyme and organ affected. Renal dysfunction, including hyperfiltration, proteinuria, and renal tubular acidosis (RTA), is a known complication, particul...
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Frontiers Media S.A.
2025-04-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1543164/full |
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| author | Magali Reyes-Apodaca Magali Reyes-Apodaca Alejandra Consuelo-Sánchez Rodrigo Vázquez-Frias Rodrigo Vázquez-Frias Benjamín Antonio Rodríguez-Espino Mara Medeiros Mara Medeiros |
| author_facet | Magali Reyes-Apodaca Magali Reyes-Apodaca Alejandra Consuelo-Sánchez Rodrigo Vázquez-Frias Rodrigo Vázquez-Frias Benjamín Antonio Rodríguez-Espino Mara Medeiros Mara Medeiros |
| author_sort | Magali Reyes-Apodaca |
| collection | DOAJ |
| description | IntroductionGlycogen storage diseases (GSDs) are a group of hereditary metabolic disorders with variable clinical manifestations, depending on the enzyme and organ affected. Renal dysfunction, including hyperfiltration, proteinuria, and renal tubular acidosis (RTA), is a known complication, particularly in GSD types of Ia and Ib.MethodsThis cross-sectional study evaluated renal function in 17 pediatric patients with different GSD types using an integral kidney assessment (IKA). The comprehensive evaluation included biochemical and urinary analyses, glomerular filtration rate calculations, and acidification tests.ResultsThe median age at first renal evaluation was 33 months, and nutritional management was often suboptimal at this stage. Through IKA, renal alterations were identified in 47% of the patients. Hyperfiltration was present in 40% of GSD type I patients, while lactic acidosis was noted in 30% of these cases. Two siblings with GSD XI presented with proximal RTA and Fanconi syndrome, highlighting severe tubular involvement. Distal RTA was documented in one non-adherent GSD Ia patient, underscoring the importance of metabolic control.DiscussionThis study emphasizes the heterogeneity of renal manifestations among different GSD subtypes. Hyperfiltration, particularly in GSD I, may result from altered energy metabolism and compensatory mechanisms within the renal tubules. Proximal tubular damage in GSD XI reflects glycogen and monosaccharide accumulation within renal epithelial cells. Adherence to dietary and medical interventions is critical for mitigating renal complications and ensuring growth and development in GSD patients. Annual kidney evaluations are recommended for early detection of renal dysfunction, enabling timely initiation of therapeutic strategies such as alkali therapy and angiotensin-converting enzyme inhibitors. |
| format | Article |
| id | doaj-art-b10e6d7a852744159a024d8b247b735e |
| institution | OA Journals |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-b10e6d7a852744159a024d8b247b735e2025-08-20T02:29:02ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-04-011310.3389/fped.2025.15431641543164Integral kidney function assessment in pediatric patients with glycogen storage diseasesMagali Reyes-Apodaca0Magali Reyes-Apodaca1Alejandra Consuelo-Sánchez2Rodrigo Vázquez-Frias3Rodrigo Vázquez-Frias4Benjamín Antonio Rodríguez-Espino5Mara Medeiros6Mara Medeiros7Faculty of Medicine, National Autonomous University of Mexico, Mexico City, MexicoNephrology and Bone Mineral Metabolism Research and Diagnostic Unit, Hospital Infantil de México Federico Gómez, Mexico City, MexicoDepartment of Gastroenterology and Nutrition, Hospital Infantil de México Federico Gómez, Mexico City, MexicoDepartment of Gastroenterology and Nutrition, Hospital Infantil de México Federico Gómez, Mexico City, MexicoResearch Management Assistant Office, Hospital Infantil de México Federico Gómez, Mexico City, MexicoNephrology and Bone Mineral Metabolism Research and Diagnostic Unit, Hospital Infantil de México Federico Gómez, Mexico City, MexicoResearch Direction Office, Hospital Infantil de México Federico Gómez, Mexico City, MexicoPharmacology Department, National Autonomous University of Mexico, Mexico City, MexicoIntroductionGlycogen storage diseases (GSDs) are a group of hereditary metabolic disorders with variable clinical manifestations, depending on the enzyme and organ affected. Renal dysfunction, including hyperfiltration, proteinuria, and renal tubular acidosis (RTA), is a known complication, particularly in GSD types of Ia and Ib.MethodsThis cross-sectional study evaluated renal function in 17 pediatric patients with different GSD types using an integral kidney assessment (IKA). The comprehensive evaluation included biochemical and urinary analyses, glomerular filtration rate calculations, and acidification tests.ResultsThe median age at first renal evaluation was 33 months, and nutritional management was often suboptimal at this stage. Through IKA, renal alterations were identified in 47% of the patients. Hyperfiltration was present in 40% of GSD type I patients, while lactic acidosis was noted in 30% of these cases. Two siblings with GSD XI presented with proximal RTA and Fanconi syndrome, highlighting severe tubular involvement. Distal RTA was documented in one non-adherent GSD Ia patient, underscoring the importance of metabolic control.DiscussionThis study emphasizes the heterogeneity of renal manifestations among different GSD subtypes. Hyperfiltration, particularly in GSD I, may result from altered energy metabolism and compensatory mechanisms within the renal tubules. Proximal tubular damage in GSD XI reflects glycogen and monosaccharide accumulation within renal epithelial cells. Adherence to dietary and medical interventions is critical for mitigating renal complications and ensuring growth and development in GSD patients. Annual kidney evaluations are recommended for early detection of renal dysfunction, enabling timely initiation of therapeutic strategies such as alkali therapy and angiotensin-converting enzyme inhibitors.https://www.frontiersin.org/articles/10.3389/fped.2025.1543164/fullglycogen storage diseasesrenal dysfunctionhyperfiltrationrenal tubular acidosispediatric nephrologymetabolic disorders |
| spellingShingle | Magali Reyes-Apodaca Magali Reyes-Apodaca Alejandra Consuelo-Sánchez Rodrigo Vázquez-Frias Rodrigo Vázquez-Frias Benjamín Antonio Rodríguez-Espino Mara Medeiros Mara Medeiros Integral kidney function assessment in pediatric patients with glycogen storage diseases Frontiers in Pediatrics glycogen storage diseases renal dysfunction hyperfiltration renal tubular acidosis pediatric nephrology metabolic disorders |
| title | Integral kidney function assessment in pediatric patients with glycogen storage diseases |
| title_full | Integral kidney function assessment in pediatric patients with glycogen storage diseases |
| title_fullStr | Integral kidney function assessment in pediatric patients with glycogen storage diseases |
| title_full_unstemmed | Integral kidney function assessment in pediatric patients with glycogen storage diseases |
| title_short | Integral kidney function assessment in pediatric patients with glycogen storage diseases |
| title_sort | integral kidney function assessment in pediatric patients with glycogen storage diseases |
| topic | glycogen storage diseases renal dysfunction hyperfiltration renal tubular acidosis pediatric nephrology metabolic disorders |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1543164/full |
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