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Recessive mutations in genes coding for enzymes of the kynurenine pathway namely kynureninase and 3-hydroxyanthranilic-acid 3,4-dioxygenase lead to combined vertebral, anal, cardiac, tracheo-esophageal, renal, and limb (VACTERL) congenital malformations (76)

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The treatment of CKD patients with NAC with the aim of improving renal function and preventing ESKD has been largely disappointing, with no evidence of reduction in proteinuria [100, 101]

doi: 10.3389/fgene.2018.00579 130 de CalignonAFoxLMPitstickRCarlsonGABacskaiBJSpires-JonesTLet al