Novel Coenzyme Q2 (CoQ2) Mutation in a Pediatric Patient With Primary Steroid-Resistant Nephrotic Syndrome Due to Coenzyme Q10 (CoQ10) Deficiency
Shahad Alwazzan, Osama Alnwaihi, Neetha John, Lova Satyanarayana Matsa, Hammad O Alshaya · 2024
Read Novel Coenzyme Q2 (CoQ2) Mutation in a Pediatric Patient With Primary Steroid-Resistant Nephrotic Syndrome Due to Coenzyme Q10 (CoQ10) Deficiency by Shahad Alwazzan, Osama Alnwaihi, Neetha John, Lova Satyanarayana Matsa, Hammad O Alshaya (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11725336.txt.
Description
Shahad Alwazzan, Osama Alnwaihi, Neetha John, Lova Satyanarayana Matsa, and Hammad Alshaya report a single child case in a 2024 paper. The boy had a kidney disease called steroid-resistant nephrotic syndrome. His illness came from a lack of coenzyme Q10, a helper in cell energy making. The cause was a change in the CoQ2 gene.
The gene change was new and present in both copies of the gene. Kidney signs were the boy's only clear symptom, which is rare for this fault. Doctors gave him coenzyme Q10 by mouth as a supplement. His kidney disease then went into remission. The case shows gene tests can find a treatable cause in some children with this kidney disease.
Catalog record
| CREATOR | Shahad Alwazzan, Osama Alnwaihi, Neetha John, Lova Satyanarayana Matsa, Hammad O Alshaya |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 10 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |