ABCMdb

PMID: 25336504

Barrio R
Management of endocrine disease: Cystic fibrosis-related diabetes: novel pathogenic insights opening new therapeutic avenues.
Eur J Endocrinol. 2015 Apr;172(4):R131-41. doi: 10.1530/EJE-14-0644. Epub 2014 Oct 21., [PubMed]

Sentences

No. Mutations Sentence Comment

29 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The F508del mutation is present in 90% of CF patients worldwide (7) and only four other mutations (G551D, W1282X, G542X, and N1303K) have a minor but substantial prevalence (1-3% each) worldwide (8). Login to comment 200 ABCC7 p.Gly551Asp Ivacaftor was FDA approved in December 2012 for CF patients with the G551D mutation; in February 2014, the FDA extended approval for ivacaftor use to another eight CFTR-gating mutations. Login to comment 201 ABCC7 p.Gly551Asp Interestingly, in a small study of patients with CF with the G551D (75) mutation and aged 6-52 years receiving ivacaftor for 1 month, significant improvement of their insulin response was observed. Login to comment 204 ABCC7 p.Gly551Asp Following this rationale, a complete resolution of CFRD with ivacaftor therapy has been very recently reported in a 25-year-old CF male with the genotype F508del/G551D (76). Login to comment