What is the primary diagnosis for a patient with meconium ileus at birth and symptoms such as pancreatic insufficiency and recurrent respiratory infections?

Prepare for the PAEA Pediatrics EOR Exam. Study with flashcards and multiple-choice questions, each question has hints and explanations. Ace your exam!

The primary diagnosis for a patient presenting with meconium ileus at birth along with symptoms like pancreatic insufficiency and recurrent respiratory infections is cystic fibrosis. Meconium ileus is a common initial manifestation of cystic fibrosis, particularly in newborns, where thick mucus obstructs the intestine. This condition is linked with the abnormal function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which results in thickened secretions in various organs, including the lungs and the pancreas.

Pancreatic insufficiency occurs due to the blockage of pancreatic ducts, preventing digestive enzymes from reaching the intestine and leading to malabsorption issues. Furthermore, the thick mucus associated with cystic fibrosis predisposes individuals to recurrent respiratory infections due to difficulty in clearing pathogens from the airways, contributing to chronic lung disease.

Other conditions like asthma, bronchiectasis, and chronic obstructive pulmonary disease do not typically present with meconium ileus as an initial symptom, nor are they directly associated with the combination of pancreatic insufficiency and the specific respiratory complications seen in cystic fibrosis. Thus, the clinical picture aligns closely with cystic fibrosis as the underlying diagnosis.

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