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Which lab test can assess pancreatic function in Schwachman-Diamond Syndrome?

Serum immunoreactive trypsinogen

The serum immunoreactive trypsinogen test is particularly relevant in assessing pancreatic function, especially in conditions like Schwachman-Diamond Syndrome, which is a genetic disorder associated with pancreatic insufficiency. In this syndrome, the pancreas fails to produce enough digestive enzymes, leading to malabsorption and other gastrointestinal issues.

The serum immunoreactive trypsinogen test measures the level of trypsinogen, a precursor to the digestive enzyme trypsin. Elevated levels of immunoreactive trypsinogen in the blood can indicate pancreatic dysfunction or insufficient enzyme production. In patients with Schwachman-Diamond Syndrome, this test helps confirm the diagnosis of pancreatic exocrine insufficiency, which is a hallmark of the condition.

Other tests listed, such as the complete metabolic profile, C-reactive protein, and urinalysis, do not specifically assess pancreatic enzyme production or function. While a metabolic profile can provide information about overall health and organ function, it does not focus on the pancreas. C-reactive protein is a marker of inflammation and is not specific to pancreatic assessment. Urinalysis is a diagnostic tool for various conditions but is not designed to evaluate pancreatic function. Therefore, the serum immunoreactive trypsinogen test is the most

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Complete metabolic profile

C-Reactive Protein

Urinalysis

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