cystic fibrosis;
maturity-onset diabetes of the young;
novel GCK gene mutation;
D O I:
10.1002/ppul.24746
中图分类号:
R72 [儿科学];
学科分类号:
100202 ;
摘要:
Cystic fibrosis (CF) is one of the most common autosomal recessive and multisystemic diseases. CF affects many systems. One of these systems is the endocrine and exocrine functions of the pancreas, causing cystic fibrosis-related diabetes, which is extremely complex and has unique pathogenesis. Maturity-onset diabetes of the young (MODY) is a rare type of diabetes with autosomal dominant inheritance and is not expected in patients with CF. In this study, we present MODY due to a novel glucokinase gene mutation, which is an unexpected form of diabetes in patients with CF. This is previously unreported in the literature.
机构:
St Vincents Hosp Sydney, Sydney, NSW, Australia
Univ New South Wales, Sydney, NSW, Australia
Garvan Inst Med Res, Sydney, NSW, Australia
Univ Notre Dame Australia, Sydney, NSW, AustraliaSt Vincents Hosp Sydney, Sydney, NSW, Australia
Bishay, Ramy H.
Greenfield, Jerry R.
论文数: 0引用数: 0
h-index: 0
机构:
St Vincents Hosp Sydney, Sydney, NSW, Australia
Univ New South Wales, Sydney, NSW, Australia
Garvan Inst Med Res, Sydney, NSW, AustraliaSt Vincents Hosp Sydney, Sydney, NSW, Australia
机构:
Wellington Reg Hosp, Endocrine Diabet & Res Ctr, Wellington 6021, New Zealand
Univ Otago, Dept Med, Wellington 6021, New ZealandWellington Reg Hosp, Endocrine Diabet & Res Ctr, Wellington 6021, New Zealand
Carroll, Richard W.
Murphy, Rinki
论文数: 0引用数: 0
h-index: 0
机构:
Univ Auckland, Fac Med & Hlth Sci, Dept Med, Private Bag 92019, Auckland 1, New ZealandWellington Reg Hosp, Endocrine Diabet & Res Ctr, Wellington 6021, New Zealand
机构:
St Vincents Hosp Sydney, Sydney, NSW, Australia
Univ New South Wales, Sydney, NSW, Australia
Garvan Inst Med Res, Sydney, NSW, Australia
Univ Notre Dame Australia, Sydney, NSW, AustraliaSt Vincents Hosp Sydney, Sydney, NSW, Australia
Bishay, Ramy H.
Greenfield, Jerry R.
论文数: 0引用数: 0
h-index: 0
机构:
St Vincents Hosp Sydney, Sydney, NSW, Australia
Univ New South Wales, Sydney, NSW, Australia
Garvan Inst Med Res, Sydney, NSW, AustraliaSt Vincents Hosp Sydney, Sydney, NSW, Australia
机构:
Wellington Reg Hosp, Endocrine Diabet & Res Ctr, Wellington 6021, New Zealand
Univ Otago, Dept Med, Wellington 6021, New ZealandWellington Reg Hosp, Endocrine Diabet & Res Ctr, Wellington 6021, New Zealand
Carroll, Richard W.
Murphy, Rinki
论文数: 0引用数: 0
h-index: 0
机构:
Univ Auckland, Fac Med & Hlth Sci, Dept Med, Private Bag 92019, Auckland 1, New ZealandWellington Reg Hosp, Endocrine Diabet & Res Ctr, Wellington 6021, New Zealand