Shwachman Syndrome
Shwachman Syndrome Causes
Shwachman syndrome can be inherited in an autosomal recessive pattern. It is caused by gene mutations in the long arm of chromosome 7 at cytogenetic position 7q11.
Shwachman Syndrome Definition
Shwachman syndrome is a rare genetic disorder with numerous and wide-ranging manifestations. The disease is characteristically marked by signs of insufficient fat and nutrient absorption because of abnormal development of the pancreas and improper functioning of the bone marrow, which results in hematologic abnormalities.
Shwachman Syndrome Diagnosis
Shwachman syndrome may seem to be difficult to diagnose because of the discrepancy and intermittent nature of some clinical features of the syndrome. Evidence of exocrine pancreatic dysfunction and abnormal low number of neutrophil granulocytes can be used as basis for diagnosis along with other physical symptoms like skeletal abnormalities and short stature.
Shwachman Syndrome Symptoms and Signs
Shwachman syndrome presents a wide range of abnormalities and symptoms. The following are some of the main characteristics of Shwachman syndrome: ? Exocrine pancreatic dysfunction ? Low levels of circulating blood cells ? Short stature ? Abnormal rib cage bone development ? Abnormal bone development in the arms and legs ? Abnormalities in the liver like abnormal enlargement of the liver ? Growth delay in particular bones ? Low red blood cell counts ? Low platelet counts ? Progressive marrow failure ? Other skeletal abnormalities
Shwachman Syndrome Treatment
Treatment is primarily symptomatic. Improper functioning of pancreas would necessitate enzyme replacement immediately. This may help decrease occurrence of diarrhea and foul smelling, oily stool. Appropriate antibiotics should be prescribed to treat infections. Interventions like blood and platelet transfusion may be obligatory to treat anemia and other bleeding problems. Physical and speech therapy may be helpful for developmental delays.