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General Symptoms
Description
First described in 1964, Shwachman-Diamond Syndrome is a rare disease
which mainly involves the pancreas, bone marrow and skeleton, but
other organs may also be affected. Next to Cystic Fibrosis, it is
the most common cause of pancreatic insufficiency in children. For
that reason, it is sometimes confused with Cystic Fibrosis; but
in children with Shwachman-Diamond Syndrome the sweat test is normal.
People with Shwachman-Diamond Syndrome usually have a decreased
ability to digest food because the cells of the pancreas, in which
digestive enzymes are produced, do not work properly. Additionally,
there is usually a decreased number of at least one kind of blood
cells. In some patients, there is a decrease in all kinds of blood
cells. Most frequently, this decrease occurs in the number of neutrophils,
the blood cell that is necessary to fight bacteria infections.
Cause
Shwachman-Diamond syndrome is a genetic, autosomal
recessive condition. The inheritance is supported by the presence
of more than one affected patient in a family. Males and females
are affected with equal frequency. However, the factors which lead
to multi-system diseases are unknown. (For information regarding
the finding of the affected gene responsible for SDS go to SDS Gene
Info. tab)
General Features
Infants often become ill with symptoms by the age of four or six
months old. Early problems include failure to thrive, feeding problems
and recurrent infections. Growth soon slows and remains below normal;
only a few children show growth beyond the third percentile. Infections
are present early in at least 85% of children. These occasionally
lead to death. Diagnosis is generally made in the first few years
of life, although occasionally diagnosis is delayed.
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