Effects of <sc>n</sc>-Acetyl-<sc>l</sc>-Cysteine on the Progression of Kidney Dysfunction in Acadian Variant Fanconi Syndrome: A Case Series.

ABSTRACT:

Introduction

Acadian variant Fanconi syndrome (AVFS) is an autosomal recessive disease caused by a mutation in the NDUFAF6 gene which results in mitochondrial dysfunction and oxidative damage to the kidneys. It presents as a slowly progressive chronic kidney disease and proximal tubular dysfunction that, in contrast to typical Fanconi syndrome, leads to end-stage renal disease. It is diagnosed clinically and is present only in Acadian people. The objective of this study was to evaluate the effect of n-acetyl-l-cysteine (NAC), an antioxidant, on the progression of loss of renal function in patients with AVFS.

Case presentation

Chart reviews were conducted on 4 active cases of AVFS not on kidney replacement therapy. Data on age, estimated glomerular filtratio

SUBMITTER: Al-Qadi M 

PROVIDER: S-EPMC12948375 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature