Effects of N-Acetylcysteine on Evolution of Kidney Function in Patients with Acadian Variant Fanconi Syndrome
- Genetic Diseases: Tubulopathies
November 03, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
- Al-Qadi, Mohammad, Universite de Sherbrooke, Sherbrooke, Quebec, Canada
- Jose, Caroline, Reseau de Sante Vitalite, Bathurst, New Brunswick, Canada
- Hebert-Chatelain, Etienne, Universite de Moncton, Moncton, New Brunswick, Canada
- Thibeault, Yves, Reseau de Sante Vitalite, Bathurst, New Brunswick, Canada
Acadian variant of Fanconi syndrome (AVFS) is an autosomal recessive disease that leads to chronic kidney failure, proximal tubule dysfunction and pulmonary fibrosis, and is present only in the Acadian people. This condition is caused by a mutation in the NDUFAF6 gene which results in mitochondrial dysfunction and oxidative damage to the kidneys. The objective of this study is to evaluate the effect of N-acetylcysteine (NAC), an antioxidant, on the progression of loss of renal function in patients with AVFS.
A retrospective self-controlled study was conducted with 4 individuals diagnosed with AVFS, comprising 100% of the known active population who were neither transplanted nor on dialysis. Medical records were reviewed to obtain information regarding glomerular filtration rate (eGFR), serum creatinine, blood pressure, and medications. eGFR was calculated using the Schwartz formula for patients under 18 years of age and the MDRD formula for adults. The changes in GFR before and after NAC prescription were analyzed for each patient to assess the effect of NAC on disease progression, and these changes were also compared with past AVFS patients who had never received NAC.
NAC was projected to delay the need for kidney replacement therapy by an average of 135 months in the treated patients who otherwise would have required it by a mean age of 28 years, which is comparable to past patients who underwent kidney replacement therapy at an average age of 30.
This study demonstrated that NAC appears to have a beneficial effect on the progression of GFR in patients with AVFS, delaying the projected need for kidney replacement therapy by over 11 years. Further studies are needed to evaluate the potential benefits of NAC in other chronic kidney conditions.