ABCMdb

PMID: 18501000

Conklin L, Zeitlin PL, Cuffari C
Cystic fibrosis presenting as recurrent pancreatitis in a young child with a normal sweat test and pancreas divisum: a case report.
J Med Case Reports. 2008 May 23;2:176., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Leu997Phe These results prompted extended Cystic Fibrosis Transmembrane Regulator Conductance (CFTR) mutational analysis that revealed a compound heterozygous mutation: ΔF508 and L997F. Login to comment 9 ABCC7 p.Leu997Phe She was subsequently diagnosed with cystic fibrosis at the age of 6 years, despite normal growth and no pulmonary symptoms, after nasal potential difference measurements suggested possible CF and two known CF-causing mutations (ΔF508 and L997F) were detected (Table 1). Login to comment 31 ABCC7 p.Leu997Phe Extended Cystic Fibrosis Transmembrane Receptor (CFTR) mutation analysis showed that the patient was positive for the L997F mutation in addition to the ΔF508, both known cystic fibrosis-causing mutations. Login to comment 34 ABCC7 p.Leu997Phe Both were shown to carry a CF mutation, the mother carrying the more obscure L997F mutation. Login to comment 53 ABCC7 p.Leu997Phe Multiple cystic fibrosis gene mutations are associated with chronic pancreatitis, including the rare L997F mutation found in our patient [3,4]. Login to comment 54 ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe The L997F (missense substitution of leucine with phenylalanine at position 997) is a highly conserved residue in transmembrane domain 9. Login to comment 55 ABCC7 p.Leu997Phe Both heterozygosity for L997F and compound heterozygosity for other CFTR mutations have been associated with idiopathic disseminated bronchiectasis, recurrent pancreatitis, and hypertrypsinemia in infants. Login to comment 56 ABCC7 p.Leu997Phe L997F was identified in 4 (12.5%) out of 32 patients with idiopathic pancreatitis, and in 4 (8%) of 49 infants with hypertrypsinemia. Login to comment 57 ABCC7 p.Leu997Phe Among the 4 patients with recurrent pancreatitis, just one was a compound heterozygote (L997F/ΔF508). Login to comment 58 ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe The others included one L997F/5T, and two with L997F/no mutation. Login to comment 60 ABCC7 p.Leu997Phe Interestingly, none of the mothers carried the L997F mutation [5,6]. Login to comment 61 ABCC7 p.Leu997Phe According to the CF Consensus Statement from 1998, these studies would support categorizing L997F as a "CF-causing mutation" associated with the increased probability of acquiring pancreatic ductular obstruction and an increased risk for recurrent pancreatitis, despite normal sweat chloride testing [7]. Login to comment 62 ABCC7 p.Leu997Phe In another study of 14 adults diagnosed with idiopathic chronic pancreatitis or recurrent acute pancreatitis, the L997F mutation was identified in 3 patients. Login to comment 63 ABCC7 p.Leu997Phe [4] On the other hand, one report disputed the association, describing a case of homozygosity for L997F in a child with a normal clinical phenotype, normal sweat test, and normal intestinal chloride transport [8]. Login to comment 64 ABCC7 p.Leu997Phe A recent case report identified a 5 year-old Pakistani child with cystic fibrosis and high sweat chloride levels who was found to have the L997F mutation. Login to comment