We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.
- Authors
Sandokji, Ibrahim; Marquez, Jonathan; Ji, Weizhen; Zerillo, Cynthia A.; Konstantino, Monica; Lakhani, Saquib A.; Khokha, Mustafa K.; Warejko, Jillian K.
- Abstract
<bold>Background: </bold>Monogenic mutations may be a significant cause of steroid-resistant nephrotic syndrome. NUP93 is a gene previously reported to cause isolated steroid-resistant nephrotic syndrome.<bold>Case Presentation: </bold>Here we describe a case of recessive, syndromic, steroid-resistant nephrotic syndrome caused by NUP93 mutation.<bold>Conclusions: </bold>NUP93 may convey a phenotype that has not only SRNS, but also other syndromic features.
- Subjects
NEPHROTIC syndrome; FOCAL segmental glomerulosclerosis; PHENOTYPES; CARRIER proteins; DRUG resistance; GENETIC mutation
- Publication
BMC Nephrology, 2019, Vol 20, Issue 1, pN.PAG
- ISSN
1471-2369
- Publication type
journal article
- DOI
10.1186/s12882-019-1458-z