Cystic Fibrosis and EPI Management

Study Notes

Exocrine Pancreatic Insufficiency (EPI)

Cystic fibrosis is the primary cause of EPI in children, along with chronic pancreatitis and rare syndromes such as Shwachman-Diamond and Johanson-Blizzard.
Management includes pancreatic enzyme replacement therapy and fat-soluble vitamin supplementation.
Symptoms can present as steatorrhea, severe diaper rash, failure to thrive, and fat-soluble vitamin deficiency.
Initial EPI symptoms often arise at birth or shortly after.

Guillain-Barré Syndrome (GBS)

Risk factors include recent respiratory or gastrointestinal infections, recent surgeries, and bone marrow transplants.
A very small association exists between GBS and the influenza vaccine.
GBS is treated with intravenous immunoglobulin and requires close monitoring for respiratory muscle involvement and potential dysautonomia.
Diagnosis can be supported by lumbar puncture, revealing high protein with normal white blood cell count (cytoalbuminologic dissociation).

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

G6PD deficiency is an X-linked enzymopathy, most prevalent among African American males (10%) and people of Middle Eastern descent.
This condition leads to increased susceptibility to oxidative stress, particularly in erythrocytes, resulting in hemolysis.
Common variants include G6PD A- (class III) and G6PD Mediterranean.
Management includes avoiding triggers such as fava beans and certain medications; evidence of hemolysis may be noted via blister cells and macrocytes on blood smear.

Hemolytic Uremic Syndrome (HUS)

A leading cause of acute renal failure in children, characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury.
Often linked to Shiga toxin-producing E. coli, particularly E. coli O157:H7, usually transmitted via foodborne routes.
Laboratory findings can reveal elevated creatinine and BUN; a CBC may show thrombocytopenia and schistocytes indicative of hemolytic processes.

Thrombocytopenia in HUS

Thrombocytopenia occurs due to consumptive coagulopathy from platelet microthrombi formation as a result of toxins.
Schistocytes in the peripheral blood smear confirm hemolysis, which is non-immune mediated.

E. coli Transmission and Reservoirs

The primary reservoir for E. coli O157:H7 includes the gastrointestinal tracts of cattle, sheep, and goats.
Key transmission routes are contaminated food (undercooked meat, unpasteurized milk), water, and fecal contamination of produce.
Secondary transmission, particularly in daycare settings, poses additional risks.

Coarctation of the Aorta

Detection is indicated by higher blood pressure readings in the right arm compared to lower readings in the legs.
Surgical repair or cardiac catheterization is the recommended treatment for hypertension associated with this condition.

Electrolyte Disturbances Following Traumatic Brain Injury (TBI)

Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) is common, leading to hyponatremia, characterized by low urine output with high urine sodium levels.
Cerebral salt wasting is another potential cause of hyponatremia, more associated with hypovolemia.
Differentiating SIADH from hypovolemic hyponatremia can be challenging yet crucial for appropriate management.

Description

Explore the causes and management of exocrine pancreatic insufficiency (EPI), particularly in relation to cystic fibrosis. This quiz focuses on the presentation, diagnosis, and treatment options available for EPI in children. Gain essential insights into ongoing management strategies and therapeutic approaches.