Congenital steatorrhoea due to pancreatic defect

Pancreatic pathophysiology in cystic fibrosis

“…The term 'cystic fibrosis' is named after the fibrocystic lesions in the pancreas, noted by Dr Dorothy Andersen in a seminal report of paediatric autopsy cases . How does deficient CFTR lead to pancreatic disease?…”

“…(E) Insulin IHC of newborn CF ferret pancreas; bar = 200 µm. (F) Higher‐magnification images of (B), demonstrating the different‐sized islets present; there were more small islets (S) in CF ferrets compared to WT, with fewer large (L) islets, while medium (M)‐sized islets were not different ; bar = 20 µm. (G, H) Insulin IHC performed on human CF patients, highlighting the lack of exocrine tissue with remnant insulin immunoreactive islets (arrows).…”

“…In the 1930s, before CF was recognized, there were reports of pancreatic insufficiency, steatorrhoea, vitamin A deficiency and failure to thrive in children, many of which, on autopsy, had evidence of severe exocrine pancreatic disease . Many of these reports are now thought to be secondary to CF .…”

A Cystic Fibrosis Pilot Survey in Three New England States

“…As shown in Table 6, however, the number of cases diagnosed before the age of five was only 85 per cent of the 459 fibrocystic patients diagnosed during the eight-year period 1952-1959. During ages five through nine, another 11 per cent of the cases became known, and at ten years and older another 4 per cent. If the same distribution is applied to the cohorts of cases diagnosed in the period 1952-1955, it can be assumed that the 186 patients diagnosed before the age of five represent only 85 per cent of the eventual total number.…”

“…These numbers give incidence rates per 100,000 live births of 40.8 for cases diagnosed under ten years and 42. 4 for cases diagnosed at all ages. These may well be underestimates; since the number of cases diagnosed under the age of eight years was 41.1 per 100,000 live births for the cohort of children born in 1952, and for cases diagnosed under seven years of age, the number was 42.1 per 100,000 live births for the 1953 cohort.…”