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You are seeing a 3 year old child adopted from another country 6 months ago for abdominal pain. Since then, the child has had chronic nasal congestion and cough as well as failure to thrive which was expected to improve with improved nutrition provided by the adoptive family but has not. The child is afebrile and there are no ill contacts. On exam, there are scant wheezes and O2 sat is 95% on room air. CXR shows hyperinflation. Chart review shows prior visits for respiratory illness, and an episode of rectal prolapse. When asked about the presence of constipation, the parents describe frequent smelly oily stools.
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September 9, 2020 at 9:42 pm
A) Sweat chloride
Sweat chloride is used to diagnose cystic fibrosis. In the USA, cystic fibrosis is typically diagnosed through newborn screening. However, children adopted from other countries may not have been screened. Clinical presentations of CF include: meconium ileus / delayed meconium passage, failure to thrive, chronic respiratory symptoms and infections, pancreatic insufficiency, which may present with steatorrhea (greasy foul-smelling bulky stools), malnutrition, and/or diabetes, distal ileal obstruction, rectal prolapse, hepatobiliary disease including cholelithiasis, nephrolithiasis and nephrocalcinosis, poor bone density, and infertility.