Case 16 - Cystic fibrosis

Question 1

Triad of Cystic fibrosis

Answer 1

chronic obstructive pulmonary disease, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations

(Characteristic pancreatic changes give the disease its name)

Question 2

How does Cystic fibrosis inherited?

Answer 2

autosomal recessive.
It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein

Question 3

What is the DDx of meconium ileus?

Answer 3

Intestinal atresia, malrotation, meconium plug, and Hirschsprung disease (congenital aganglionic megacolon).

Question 4

A 10-year-old boy has a history of recurrent sinusitis and multiple episodes of pneumonia. Please give DDx.

Answer 4

Primary ciliary dyskinesia, Kartagener’s syndrome (Primary ciliary dyskinesia + visceral situs inversus),