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Pitt study: Cystic fibrosis could be two diseases

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Thursday, July 17, 2014, 2:48 p.m.

People with unexplained pancreatic problems might have a previously unknown type of cystic fibrosis that doesn't affect the lungs, according to researchers at the University of Pittsburgh.

The Pitt team, working with researchers at other institutions, says this second kind of cystic fibrosis is caused by nine major mutations that had gone unnoticed by the medical community.

The discovery could help target better treatments for people with unexplained pancreatitis, an inflammation of the pancreas that can be life-threatening.

“The world now has a target for these patients with pancreatic problems to begin devising some ways to prevent their pancreas from destroying itself,” said Dr. David Whitcomb, co-senior investigator and chief of gastroenterology, hepatology and nutrition at the University of Pittsburgh School of Medicine.

This area of research is complex, said Chris Penland, vice president of research for the Cystic Fibrosis Foundation.

“While it's premature to know what these findings may ultimately mean, it's a very interesting study that potentially offers insight into CFTR-related disorders,” he said, using an acronym for cystic fibrosis transmembrane conductance regulator.

The Pitt team found the mutations by testing nearly 1,000 patients with pancreatitis, as well as healthy volunteers. The mutations do not affect the lungs, which are typically harmed by cystic fibrosis. Instead, they can lead to sinusitis, male infertility and problems in the pancreas, an organ long affected by cystic fibrosis.

“In the past, we would just watch people's lives disintegrate or the pancreas disintegrate and have all kinds of problems. Now, we can start thinking about ways to intervene early and prevent the development of complex diseases,” Whitcomb said.

An estimated 30,000 children and adults in the United States have cystic fibrosis, according to the Cystic Fibrosis Foundation. In addition to experiencing build-up of mucus in the lungs, people with cystic fibrosis have trouble digesting food because mucus develops in the pancreas.

“I think this paper helps us with greater understanding of the spectrum of CF disease, but we have been aware of the role of CFTR (the cystic fibrosis gene) in pancreatitis for many years,” said Dr. Michael Boyle, director of the Johns Hopkins Adult Cystic Fibrosis Program in Baltimore.

The study was published online on Thursday in the journal PLOS Genetics. The research team included co-senior author Dr. Min Goo Lee of Yonsei University College of Medicine in Seoul and Ivet Bahar, chair of computational biology at Pitt's School of Medicine.

Luis Fábregas is Trib Total Media's medical editor. He can be reached at 412-320-7998 or

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