Renal sonographic findings of type I glycogen storage disease in infancy and early childhood |
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Authors: | Chun-Chen Lin Jeng-Daw Tsai Shuan-Pei Lin Hung-Chang Lee |
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Affiliation: | (1) Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan;(2) Department of Pediatrics, Taipei Medical University, Taipei, Taiwan |
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Abstract: | Background: Type I glycogen storage disease (GSD-I) is an inherited disorder affecting glycogenolysis and gluconeogenesis. The characteristic manifestations are hepatomegaly, hypoglycemia, hyperlacticacidemia, hyperuricemia, and hyperlipidemia. Renal disease is regarded as a long-term complication and is reported mainly in older patients. Objective: We report the renal manifestations and renal ultrasonographic findings of GSD-I in infancy and early childhood in order to assess the role of renal sonography in the diagnosis of GSD-I. Materials and methods: We retrospectively reviewed our hospitals database for patients with GSD-I from January 1993 to September 2004. The records of five patients were reviewed for this study. These five patients were diagnosed when they were younger than 3 years old. Data extracted from the charts included the initial extrarenal and renal manifestations, laboratory data, and imaging studies. We analyzed the indications for, and results of, renal sonography. Results: In addition to the clinical presentations and laboratory abnormalities, all five children had nephromegaly and increased echogenicity on ultrasonography on their first visit, although only a minor degree of tubular dysfunction was noted clinically. Three of these five patients had nephrocalcinosis or renal stones or both. Conclusion: Hyperechoic large kidneys, nephrocalcinosis, and renal stones are common in GSD-I. They can be present in early infancy. Abnormalities on renal sonography might suggest GSD-I in a patient with suspected inborn errors of metabolism. |
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Keywords: | Type I glycogen storage disease Hyperechoic large kidneys Nephrocalcinosis Renal stone |
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