What is Clinically Relevant About the Genetics of Cystic Fibrosis?

Cuppens, Harry

doi:10.1002/9780470987506.ch25

Cited by 1 publication

(1 citation statement)

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“…The CFTR mutations are historically divided into five classes according to the type of defect caused to the CFTR protein and also according to the severity of the clinical phenotype: severe mutations (classes 1-3) and mild mutations (classes 4-5) [40]. These are detailed in Figure 4 (edited according to [41]). In general, the functional consequences of CFTR mutations depend upon the combined effects of both CFTR alleles and the severity of the phenotype depends upon the mildness or severity of the mutations [42].…”

Section: Cystic Fibrosismentioning

confidence: 99%

Causes of Exocrine Pancreatic Insufficiency Other Than Chronic Pancreatitis

Kunovský

Dítě

Jabandžiev

et al. 2021

JCM

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Exocrine pancreatic insufficiency (EPI), an important cause of maldigestion and malnutrition, results from primary pancreatic disease or is secondary to impaired exocrine pancreatic function. Although chronic pancreatitis is the most common cause of EPI, several additional causes exist. These include pancreatic tumors, pancreatic resection procedures, and cystic fibrosis. Other diseases and conditions, such as diabetes mellitus, celiac disease, inflammatory bowel disease, and advanced patient age, have also been shown to be associated with EPI, but the exact etiology of EPI has not been clearly elucidated in these cases. The causes of EPI can be divided into loss of pancreatic parenchyma, inhibition or inactivation of pancreatic secretion, and postcibal pancreatic asynchrony. Pancreatic enzyme replacement therapy (PERT) is indicated for the conditions described above presenting with clinically clear steatorrhea, weight loss, or symptoms related to maldigestion and malabsorption. This review summarizes the current literature concerning those etiologies of EPI less common than chronic pancreatitis, the pathophysiology of the mechanisms of EPI associated with each diagnosis, and treatment recommendations.

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Section: Cystic Fibrosismentioning

confidence: 99%