Creating a free account will enable you to subscribe to our daily and weekly email newsletters, as well as customize your reading experience to show only the categories most relevant to you.
Signing up only take a few minutes, so why not give it a try and see what you've been missing out on.
Patients with nephritic syndrome exhibit an array of symptoms that are associated with loss of kidney function, including excess protein in urine, swelling, and albuminuria.
Many nephritic syndrome patients respond well to treatment with steroids; however, subsets of patients are resistant to steroid treatment and are at high risk of kidney failure.
Recent studies have identified single gene mutations that are associated with development of steroid-resistant nephritic syndrome; however, these mutations account for approximately half of all steroid-resistant cases.
In this issue of the Journal of Clinical Investigation, Friedhelm Hildebrandt and colleagues at Boston Children's Hospital identified mutations in gene encoding the aarF domain containing kinase 4 (ADCK4) in 15 individuals with steroid-resistant nephritic syndrome from 8 different families.
The authors found that cells isolated from patients with ADCK4 mutations had reduced levels of coenzyme Q1 (CoQ10), and decreased mitochondrial respiration.
Furthermore, one patient with ACDK4-assocatiated steroid-resistant nephritic syndrome showed improvement following treatment with CoQ10. In their companion commentary, Laura Malaga-Dieguez and Katalin Susztak of the University of Pennsylvania suggest that CoQ10 treatment may be promising for a subset of patients with steroid-resistant nephritic syndrome.
ACCOMPANYING COMMENTARY TITLE: ADCK4 "reenergizes" nephrotic syndrome
Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our Urology / Nephrology category page for the latest news on this subject.
Please use one of the following formats to cite this article in your essay, paper or report:
Journal of Clinical Investigation. "Genetic mutation associated with steroid-resistant nephritic syndrome identified." Medical News Today. MediLexicon, Intl., 27 Nov. 2013. Web.
24 Apr. 2014. <http://www.medicalnewstoday.com/releases/269332>
Journal of Clinical Investigation. (2013, November 27). "Genetic mutation associated with steroid-resistant nephritic syndrome identified." Medical News Today. Retrieved from
Please note: If no author information is provided, the source is cited instead.
If you write about specific medications, operations, or procedures please do not name healthcare professionals by name.
For any corrections of factual information, or to contact our editorial team, please use our feedback form. Please send any medical news or health news press releases to:
Note: Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a health care professional. For more information, please read our terms and conditions.
This page was printed from: http://www.medicalnewstoday.com/releases/269332.php
Visit www.medicalnewstoday.com for medical news and health news headlines posted throughout the day, every day.
© 2004-2014 All rights reserved. MNT is the registered trade mark of MediLexicon International Limited.