Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

被引:0
作者
Joanna Jaworska
Aleksandra Marach-Mocarska
Dorota Sands
机构
[1] Institute of Mother and Child,
[2] Cystic Fibrosis Department,undefined
[3] Children’s Memorial Health Institute,undefined
[4] Department of Gastroenterology,undefined
[5] Hepatology,undefined
[6] Feeding Disorders and Pediatrics,undefined
来源
BMC Pediatrics | / 20卷
关键词
Cystic fibrosis; CF; Metabolic acidosis; Case report; Genetic testing;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
[33]   An ovine CFTR variant as a putative cystic fibrosis causing mutation [J].
Tebbutt, SJ ;
Harris, A ;
Hill, DF .
JOURNAL OF MEDICAL GENETICS, 1996, 33 (07) :623-624
[34]   Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis [J].
Ratkiewicz, Michelle ;
Pastore, Matthew ;
McCoy, Karen Sharrock ;
Thompson, Rohan ;
Hayes, Don, Jr. ;
Sheikh, Shahid Ijaz .
WORLD JOURNAL OF PEDIATRICS, 2017, 13 (02) :129-135
[35]   CFTR modulator therapy for cystic fibrosis caused by the rare c.3700A>G mutation [J].
Phuan, Puay-Wah ;
Haggie, Peter M. ;
Tan, Joseph A. ;
Rivera, Amber A. ;
Finkbeiner, Walter E. ;
Nielson, Dennis W. ;
Thomas, Merlin M. ;
Janahi, Ibrahim A. ;
Verkman, Alan S. .
JOURNAL OF CYSTIC FIBROSIS, 2021, 20 (03) :452-459
[36]   Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis [J].
Michelle Ratkiewicz ;
Matthew Pastore ;
Karen Sharrock McCoy ;
Rohan Thompson ;
Don Hayes ;
Shahid Ijaz Sheikh .
World Journal of Pediatrics, 2017, 13 :129-135
[37]   Modeling cystic fibrosis disease progression in patients with the rare CFTR mutation P67L [J].
MacKenzie, Isobel E. R. ;
Paquette, Valerie ;
Gosse, Frances ;
George, Sheenagh ;
Chappe, Frederic ;
Chappe, Valerie .
JOURNAL OF CYSTIC FIBROSIS, 2017, 16 (03) :335-341
[38]   An uncommon delayed presentation of a large cystic hygroma in a teenage girl: a case report [J].
Lodhia, Jay ;
Hussein, Atiyya ;
Amsi, Patrick ;
Mtokambali, Joseph ;
Msuya, David .
INTERNATIONAL JOURNAL OF SURGERY OPEN, 2024, 62 (05) :627-630
[39]   A case of severe pulmonary exacerbation in a young patient with cystic fibrosis in the era of CFTR modulators [J].
Lanfranchi, Chiara ;
Rizza, Carmela ;
Russo, Maria Chiara ;
Borzani, Irene ;
Angileri, Salvatore Alessio ;
Nazzari, Erica ;
Alicandro, Gianfranco ;
Blasi, Francesco ;
Dacco, Valeria .
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES, 2024, 147
[40]   Osteitis Fibrosis Cystica: Classical Case Report of an Uncommon Presentation in a Young Female [J].
Vaibhav Saini ;
Nitin Gupta ;
Ankur Mohan ;
Vikasdeep Gupta ;
Kartik Kolluru .
Indian Journal of Otolaryngology and Head & Neck Surgery, 2022, 74 :5319-5323