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- Title
Intermediate type cystinosis with a novel CTNS variant in a child: a case report.
- Authors
Elamin, Mugahid; Alzhrany, Ghada; Mohamed, Reem; Daw, Wafa; Alabbasi, Bashiar; Ahmed, Muawia; Bakhiet, Yassir; Aloufi, Yomna; Aloufi, Majed
- Abstract
Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body's tissues. It has been classified into three subtypes based on its clinical presentation: severe infantile nephropathic cystinosis, intermediate mild form, and ocular non-nephropathic adult form. We report a teenage girl who presented with end stage kidney disease as her first presentation and was found to have corneal cystine crystals upon ophthalmic evaluation. Genetic testing confirmed that she has a CTNS variant, a CTNS variant c.520A > C p.(Ser174Arg) never described in the literature previously. Full family genetic screening supported the diagnosis. She was started on oral and ocular cysteamine and maintained on peritoneal dialysis for a few months and eventually underwent a successful deceased donor kidney transplantation. These findings expand the spectrum of CTNS gene variants and highlight the potential of atypical and severe presentations of this variant during adolescence.
- Subjects
GENETIC testing; TEENAGE girls; GENETIC variation; LYSOSOMAL storage diseases; PERITONEAL dialysis; GLYCOGEN storage disease type II
- Publication
Journal of Rare Diseases, 2024, Vol 3, Issue 1, p1
- ISSN
2731-085X
- Publication type
Article
- DOI
10.1007/s44162-024-00053-y