Renal sonographic findings of type I glycogen storage disease in infancy and early childhood.
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.


METHODS
We retrospectively reviewed our hospital's 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.


CONCLUSIONS
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.
Lin
Chun-Chen
CC
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Tsai
Jeng-Daw
JD
Lin
Shuan-Pei
SP
Lee
Hung-Chang
HC
D015415:Biomarkers / Q000378:metabolism; D001806:Blood Urea Nitrogen; D002675:Child, Preschool; D003404:Creatinine / Q000097:blood; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000000981:diagnostic imaging*; D006801:Humans; D007090:Image Interpretation, Computer-Assisted; D007091:Image Processing, Computer-Assisted; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D018084:Ultrasonography, Interventional
D015415:Biomarkers; D003404:Creatinine