December 2011
32
Surgical procedures include:
3
-
Kidney transplantation in case of end stage renal disease.
-
Excision of hepatic adenomas if complications (bleeding or mechanical complaints) arise.
-
Liver transplantation can be performed if hepatic carcinoma is suspected.
Prior to elective surgery bleeding time should be normalised by continuous gastric drip feeding (24
hr during 7 days) or intravenous glucose infusion (for 24 - 48 hr).
1,5
Individual emergency protocol
s are used to prevent metabolic decompensation.
Emergency protocol main features:
5
-
Risk factors for metabolic decompensation are intercurrent illness, especially with fever
(
increases the glucose metabolism), anorexia, vomiting and diarrhoea (causing a decrease in
glucose intake).
-
Frequent supply of exogenous glucose must be maintained either by repetitive small amounts
of glucose solution (either orally or by gastrotomy or nasogastric tube) or via intravenous
therapy.
-
Peri-operative supply of exogenous glucose and monitoring of blood glucose and lactate
concentration is essential. In addition prior to elective surgery bleeding time should be
normalised.
Complications
Growth and development
-
Growth delay leading to short stature occurs mostly in patiënts with poor metabolic control (or
untreated children). In patiënts with good metabolic control a normal growth rates and ultimate
adult height is usually obtained.
2
-
Delayed puberty is most frequent seen in patiënts with poor metabolic control, although the
pubertal development progresses normally. Optimal metabolic control should be pursued. With
strict adherence to the dietary regimen, age of onset of puberty can be normal.
1,3
-
Neurocognitive effects can occur as a result of hypoglycaemia. Long term cerebral function is
normal if hypoglycaemic damage is prevented. Yet a less strict metabolic control can have a
protective function as chronic lactic acidosis may provide the brain with an alternative fuel.
2
Hepatic disorders
-
Hepatic adenomas, which may develop in the second or third decade, often remain unchanged
for years. Haemorrhage within the adenomas or malignant transformation (to a hepatocellular
carcinoma) can occur, furthermore they might cause mechanical problems. Regular
ultrasonography is the best way to follow the size and number of adenomas. In case of sudden
increase in size or number MRI or CT and analysis of tumormarkers (AFP, CEA) are indicated.
Surgery is indicated for suspicion of malignant transformation. Liver transplantation will correct
glucose homeostasis but does not correct renal complications (nor neutropenia in GSD 1b
patiënts).
1,2,5
Liver function is normal in patiënts with GSD 1.
1
Renal disease
-
Enlargement of the kidneys, often present at diagnosis, due to accumulation of glycogen.
-
Renal failure is a major complication in GSD 1. Both proximal and distal renal tubular function as
well as glomerular function are at risk in patiënts with GSD 1.
-
Nefrolithiasis can develop as a result of hyperuricemia, decreased urinary citrate excretion and
increased urinary calcium extraction (due to renal tubular dysfunction). This condition can be
treated with Allopurinol or Citrate supplementation.
-
Renal tubular acidosis develops due to hyperphosphaturia and loss of bicarbonate (as a result of
proximal tubular dysfunction). These findings often resolve with better metabolic control.