Renal Involvement in Glycogen Storage Diseases
<p id="p1">Glycogen storage diseases (GSDs) are genetic diseases affecting the synthesis, degradation, or utilization of glycogen. Many GSDs comprise renal features: GSD Type I can be complicated by tubular anomalies, renal lithiasis, and chronic kidney disease similar to that of diabetes. Fanconi-B...
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| Autores principales: | , , |
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| Formato: | Capítulo de libro |
| Lenguaje: | inglés |
| Publicado: |
IntechOpen
2022
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| Materias: | |
| Acceso en línea: | https://www.intechopen.com/chapters/1084142 |
| Etiquetas: |
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| Sumario: | <p id="p1">Glycogen storage diseases (GSDs) are genetic diseases affecting the synthesis, degradation, or utilization of glycogen. Many GSDs comprise renal features: GSD Type I can be complicated by tubular anomalies, renal lithiasis, and chronic kidney disease similar to that of diabetes. Fanconi-Bickel syndrome (FBS) is characterized by hypophosphatemic rickets and a particular tubular dysfunction (Fanconi syndrome), the most constant element of which is glucosuria. Besides, Tarui disease (GSD-VII) and McArdle disease (GSD-V) may be present at the onset in the second decade as an acute renal failure (ARF) secondary to acute rhabdomyolysis or myoglobinuria. These particularities will be described here in more detail.</p> |
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| ISBN: | 978-1-80355-976-6 |
| DOI: | 10.5772/intechopen.1000171 |