A 4-year-old boy presents with a rectal prolapse. His parents report that he has constipation and his stools are bulky and foul smelling. His growth chart indicated that he is belo... A 4-year-old boy presents with a rectal prolapse. His parents report that he has constipation and his stools are bulky and foul smelling. His growth chart indicated that he is below the 5th percentile in both height and weight. In the past, he has had 2 episodes of pneumonia. During investigation, he tested positive for the sweat chloride test. His parents and a 1-year-old brother are healthy and have no clinical symptoms. Which of the following would be the most appropriate investigation? A. Sibling's sweat chloride test B. Parents' Sweat chloride test C. Sibling's DNA analysis for the cystic fibrosis transmembrane conductance regulator gene D. Parents' DNA analysis for the cystic fibrosis transmembrane conductance regulator gene
Understand the Problem
The question presents a clinical scenario involving a 4-year-old boy with symptoms suggesting cystic fibrosis, including rectal prolapse, constipation, and a positive sweat chloride test. The question is asking which investigation would be most appropriate given the context, specifically regarding family testing for cystic fibrosis.
Answer
C. Sibling's DNA analysis for the cystic fibrosis transmembrane conductance regulator gene
The final answer is C. Sibling's DNA analysis for the cystic fibrosis transmembrane conductance regulator gene.
Answer for screen readers
The final answer is C. Sibling's DNA analysis for the cystic fibrosis transmembrane conductance regulator gene.
More Information
The symptoms described in the case such as constipation, bulky foul-smelling stools, failure to thrive, episodes of pneumonia, and a positive sweat chloride test are characteristic of cystic fibrosis. It is important to assess the sibling for cystic fibrosis as early diagnosis is beneficial.
Tips
A common mistake is selecting the sweat chloride test, which is less specific than DNA analysis for confirming a genetic predisposition.
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