Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam

Schwachman-Diamond Syndrome is a genetic disorder that primarily affects the bone marrow, pancreas, and intestines. Among the gastrointestinal symptoms associated with this syndrome, diarrhea and steatorrhea are commonly observed, mainly due to pancreatic insufficiency. The pancreas is responsible for producing enzymes that aid in the digestion and absorption of nutrients. In individuals with Schwachman-Diamond Syndrome, the inability to produce these enzymes can lead to malabsorption, resulting in diarrhea. Steatorrhea, or fatty stools, occurs when unabsorbed fat is excreted in the stool, another effect of inadequate pancreatic enzyme levels.

This gastrointestinal manifestation aligns well with the general clinical presentation of the syndrome, which includes digestive issues related to pancreatic function. Understanding this relationship can be crucial for managing patients with Schwachman-Diamond Syndrome, as addressing their gastrointestinal symptoms is essential for improving their overall health and nutritional status.