Manifestations of Gastrointestinal Disease in the Child

Gastrointestinal Disease in the Child 723
aspartate aminotransferase (AST) and alanine aminotransferase (ALT). This is
not uncommon in patients who had a meconium ileus as a neonate and are
pancreatic-insufficient. In most of these patients, the enzymes either normalize
or remain slightly elevated throughout their life. A small proportion develop
serious liver disease.
6.2.3 HEPATOSPLENOMEGALY
Children with cystic fibrosis can have mild hepatomegaly, probably secondary
to fatty infiltration because of poor nutritional status. In these patients, the
liver is smooth and soft. Approximately five to 15% of patients with cystic
fibrosis go on to develop more serious liver disease with focal nodular cirrhosis.
The pathogenesis appears to be the result of decreased or absent chloride
secretion in the bile ducts. This causes increased viscosity and decreased flow
of bile. Subsequently there is focal biliary obstruction, which can cause hepatocyte
injury and focal biliary fibrosis and eventually multinodular cirrhosis.
The disease tends to progress slowly and is more common in males and
patients who have had a meconium ileus as an infant. Because it is initially a
disease involving the bile ducts, there can be remarkably advanced liver
disease with normal liver enzymes and liver function studies. Recent literature
suggests that abdominal ultrasounds may be useful in detecting CF liver
disease prior to biochemical changes. By the time there are changes in the
liver texture on clinical exam the disease is very advanced.
Initially clinical problems are usually the result of hypersplenism and then
of portal hypertension. Splenomegaly is usually not detected until the patient
is aged six or older. On histologic examination of the liver, these patients have
multinodular or biliary cirrhosis. It can be years before there are changes in the
albumin, coagulation tests, or an elevation of the bilirubin. With the significant
portal hypertension, the patients are at risk for bleeding from esophageal or small
bowel varices. As the life-span of patients with cystic fibrosis increases, one
would expect to see increasing morbidity and mortality from liver failure.
In recent years, ursodeoxycholic acid has been used to try to improve the
liver disease in cystic fibrosis. Short-term studies report that patients treated
with ursodeoxycholic acid show improvement in their liver enzymes and,
in some cases, in liver function studies. It has yet to be determined whether
long-term treatment will actually prevent progression of the liver disease and
perhaps protect some children from developing cirrhosis.
6.3 Management of Pancreatic Insufficiency
As there are numerous gastrointestinal problems in cystic fibrosis and their
interrelationship can be quite complex, it is beyond the scope of this section
to discuss the management in detail. In the majority of cases, the problem