Researchers presented a case of an infant born with both alpha-1 antitrypsin deficiency (AATD) and cystic fibrosis (CF) and published their findings in BMC Pediatrics. The study is thought to be the only known case of a child born with both diseases.

“We report on a boy with early CF diagnosis presenting with meconium ilius (MI) and rapidly progressive liver disease leading to liver failure and later diagnosed [AATD],” the authors wrote.

“The incidence of having both diseases is approximately one in every 3 to 31.5 million people, and this case illustrates the complexity of care in case of two severe inherited diseases as well as post solid organ transplant care.”

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The baby was born with MI, and the diagnosis of CF in the infant was confirmed by the sweat test and genetic analysis. However, the child developed severe cholestasis, indicating another problem and leading to the need for prolonged total parenteral nutrition. Decreased serum alpha-1 antitrypsin and further genetic analyses confirmed the baby also had AATD.

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The authors suspect that the combination of the 2 diseases, along with extended time on parenteral nutrition and the repeated need for broad-spectrum antibiotics led to the liver disease and liver failure that followed. Multiple surgeries and an orthotopic infant liver transplantation at the age of 8 months were required, which were followed by infection and acute organ rejection treated with corticosteroids.

At 16 months, a gastrostomy was performed to restore transit and the boy was weaned from parenteral nutrition at the age of 2 years. Post liver transplant, his alpha-1 antitrypsin serum level was normal at 1.86 g/L.


Jaspers E, Van Dijck I, Hoffman I, et al. Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature. BMC Pediatr. Published online May 3, 2022. doi:10.1186/s12887-022-03290-6