Shwachman's syndrome: pathomorphosis and long-term outcome

Area of Science:

• Pediatric Gastroenterology
• Genetics
• Endocrinology

Background:

• Shwachman's syndrome is a rare inherited disorder causing pancreatic insufficiency, neutropenia, and skeletal abnormalities.
• While often diagnosed in childhood, the long-term clinical course and pathomorphosis remain incompletely understood.
• This study focuses on the long-term outcomes of Shwachman's syndrome diagnosed in infancy.

Purpose of the Study:

• To investigate the long-term clinical course and pathomorphosis of Shwachman's syndrome.
• To analyze changes in exocrine pancreatic function over time in affected individuals.
• To evaluate associated hematologic, skeletal, and neuropsychological features.

Main Methods:

• Exocrine pancreatic function assessed via duodenal intubation and pancreatic stimulation tests.
• Comprehensive evaluations included nutritional, biochemical, hematologic, radiologic, and psychological assessments.
• Long-term follow-up was conducted on six patients diagnosed in infancy.

Main Results:

• All patients presented with growth retardation and pancreatic insufficiency at diagnosis.
• Significant growth improvement was observed in followed-up patients.
• Exocrine pancreatic function showed improvement or normalization in most patients over time.

Conclusions:

• Exocrine pancreatic function in Shwachman's syndrome may improve or normalize with age, necessitating periodic monitoring.
• Early neuropsychological evaluation is recommended due to potential cognitive abnormalities.
• The syndrome can be diagnosed even without initial pancreatic insufficiency, and infection frequency may decrease over time.