Echogenic kidneys and medullary calcium deposition in a young child with Glycogen Storage Disease type 1a
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Pediatric Radiology 9 Springer-Verlag 1992
Echogenic kidneys and medullary calcium deposition in a young child with Glycogen Storage Disease type 1 a J. J. A. Fick and E J.A. Beek Department of Radiology, A. Z. U. University Hospital, Utrecht, The Netherlands Received: 30 September 1991; accepted: 20 October 1991
Abstract. We r e p o r t the case of a young child with Glycogen Storage Disease (GSD) type-Ia who developed echogenic kidneys, medullary calcium deposition and disturbance of renal function. These severe renal abnormalities are seen in young adults whose G S D - I has been ineffectively treated. Renal disease can be considered a major p r o b l e m in GSD-I.
apy was adjusted to continuous nasogastric infusion. At the age of 6 months both kidneys were grossly enlarged on ultrasound, measuring 7.3 cm in length. Both kidneys showed en-
hanced echogenicity in the medullary region (Fig.la). Two years later both kidneys measured 9.4 cm in length and showed homogeneous enhanced echogenicity compared to liver and spleen. The medullary
Glycogen Storage Disease type Ia ( G S D - I a ) is an u n c o m m o n metabolic disorder. The most frequent abnormality on ultrasound i~ hepatomegaly. Ultrasonic severe renal abnormalities and disturbance of renal function can be found in young adults whose G S D - I has b e e n ineffectively treated. We r e p o r t the case of a young child with these abnormalities.
Case report Our patient is a boy of 3 years at present. Hepatomegaly was noted at 2 months of age and at the age of 6 months further lines enlargement, acidosis and hypoglycemiawere found. The diagnosis of type Ia GSD was confirmed by hepatic biopsy. Treatment by diet was undertaken with five meals containing carbohydrate during the daytime and nocturnal nasogastric infusion of glucose. At first nocturnal lactic acidosis was present (up to 14 retool/l). This was reduced to acceptable values (4-6 mmol/1) after nutritional adjustments. This treatment was continued at home. At 2 years of age disturbance of renal function developed. Urinalysis showed elevated levels of calcium, lactic acid and protein. There was an elevated creatinine clearance (hyperfiltration) and an elevated blood level of lactic acid. There was no hyperuricaemia and no hypertension. Also the growth rate had changed, from P10 to below P3. During hospitalization ther-
Fig. 1. Right kidney at age 6 months (a). Right kidney at age 3 year (b). Note the development of medullary calcium-deposition
Fig. 2. Renal medulla with paratubular calcifications ( ,l, ) (hematoxylin and eosin, x 150)
73 echogenicity was more pronounced in both kidneys and had developed acoustic shadowing (Fig. lb). A percutaneous renal biopsy was performed when the patient was three years of age. Light microscopic examination revealed interstitial calcium deposition in the medulla near the tubules and swollen epithelium of the proximal tubules (Fig. 2). Electron microscopy showed massive deposition of glycogen in the tubular epithelial cells. Most of the glycogen particles were
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