Gastrointestinal Disease in CGD M . E L I Z A B E T H M . Y O U N G E R C R N P , P H . D A S S I S T A N T P R O F E S S O R , P E D I A T R I C S J O H N S H O P K I N S U N I V E R S I T Y S C H O O L O F M E D I C I N E B A L T I M O R E , M A R Y L A N D
Prevalence Studies report some GI disease in 27-44% of people with CGD Onset in x-linked disease by age 5
Possible Symptoms Failure to thrive or falling off of the growth curve Malaise and fatigue Abdominal pain Loose or frequent stools OR Bloating associated with infrequent stools Decreased appetite
Characteristics Strictures (narrowing) in the intestines Fistulas Obstruction secondary to granulomas Inflammatory process, not infectious Decreased protein or albumin, measured in the blood More lesions in lower colon (rectum and anus) but lesions are found throughout the GI tract
Diagnosis Endoscopy (upper and lower) is the Gold STANDARD for diagnosis
“Take home” for parents Be aware of the prevalence of GI disease associated with CGD Don’t discount subtle signs: Fatigue Changes in bowel habits Changes in appetite Abdominal pain Go with your parental instincts…if you think something is wrong, it probably is
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