Review of the Abdominal Manifestations of Cystic Fibrosis in the Adult Patient

Abstract

Cystic fibrosis is a common inherited fatal disease. As the life expectancy of affected individuals continues to increase with advances in disease management, this disease is no longer limited to the pediatric population. Currently, 40% of patients with cystic fibrosis are adults. In addition, patients may not present until adulthood and frequently have extrapulmonary symptoms. Abdominal manifestations are common and affect multiple organ systems. Hepatobiliary manifestations include fatty infiltration of the liver, gallbladder abnormalities, bile duct abnormalities, focal biliary fibrosis, and multinodular cirrhosis. Manifestations in the pancreas include acute pancreatitis, fatty replacement, calcifications, cysts, duct abnormalities, and carcinoma. Gastrointestinal manifestations include gastroesophageal reflux, peptic ulceration of the gastric and duodenal mucosa, distal intestinal obstruction syndrome, intussusception, appendicitis, fibrosing colonopathy, pneumatosis intestinalis, rectal mucosal prolapse, malignancies, and pseudomembranous colitis. Renal manifestations include nephrolithiasis, as well as secondary renal complications such as interstitial nephritis due to antibiotic therapy and amyloidosis. Awareness of these manifestations is important to successfully guide management of cystic fibrosis in adult patients.

Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals with Cystic Fibrosis

“…Classic CF is characterized by failure to thrive, recurrent bacterial endobronchitis, progressive decline of lung function, exocrine pancreatic dysfunction, and infertility in males. 3,4 The phenotype is variable, however, and ranges from mild with limited manifestations to rapid deterioration and death within the first year of life. The severity of clinical manifestations depends on the set of CFTR mutations, modifying genes, and other variables.…”

Clinical and Laboratory Findings of Infants with Cystic Fibrosis

“…KF'li hastalarda diğer bir önemli patoloji ekzokrin pankreas fonksiyonları bozukluğuna bağlı yağlı, pis kokulu ve bol miktarda dışkılamadır. 11,23,24 Gastrointestinal semptomlardan en sık ishal (%46,2) tespit edildi. Pankreas yetmezliğinin pankreas fonksiyon testleri ile değerlendirilmesi mümkün olmadı.…”

“…İlk başvuruda hipoalbüminemi %4-50 oranında bulunmuş ve hipoalbümineminin ciddi solunum sistemi semptomları ile korele olduğu bildirilmiştir. 23,24,37 Çalışmada ilk başvuruda %35,9 oranında hipoalbüminemi tespit edildi.…”

Pancreatitis in Cystic Fibrosis and CFTR-Related Disorder

“…In CF, fatty replacement of the pancreatic parenchyma, with or without glandular atrophy (56-93%) is the most common finding at imaging in adult patients, and the mean age of fatty replacement is 17 years (Robertson et al, 2006;Shanbhogue et al, 2009). Other radiological findings include pancreatic calcifications (7%); cyst formation (pancreatic cystosis); and abnormalities of the pancreatic duct, including strictures, beading, dilatation, and obstruction (Shanbhogue et al, 2009).…”

“…Other radiological findings include pancreatic calcifications (7%); cyst formation (pancreatic cystosis); and abnormalities of the pancreatic duct, including strictures, beading, dilatation, and obstruction (Shanbhogue et al, 2009). The pancreatic duct can be poorly demonstrated with ultrasonography (US) in CF patients with pancreatic atrophy and fatty replacement, and is best demonstrated with magnetic resonance cholangiopancreatography (MRCP) or endoscopic retrograde cholangiopancreatography (ERCP) (Robertson et al, 2006). Imaging has no role in monitoring of exocrine pancreatic function but has a yet to-be-defined role in surveillance for pancreatic adenocarcinoma.…”