Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations

Focal segmental glomerulosclerosis (FSGS) is a kidney histologic lesion that may be caused by multiple aetiologies and pathophysiological mechanisms, with podocyte injury depletion as the common denominator. FSGS subdivided into different subclasses: primary, secondary, genetic unknown forms. Notwithstanding overlapping clinical histological characteristics across forms of FSGS, their management response to treatment are strikingly different. Genetic suggested appearance nephrotic syndrome during childhood, but it also present in adulthood, where diagnosis rather challenging due widely variable phenotypes. Herein we case 34-year-old female family history chronic disease undetermined aetiology, referred for Nephrology consultation haematoproteinuria de novo arterial hypertension. Complementary evaluation revealed urinary protein/creatinine ratio 4.3 g/g albumin/creatinine 3.9 hypoalbuminaemia. Kidney biopsy lesions associated extensive foot process effacement. The constellation findings raised suspicion cause, therefore testing was performed. Two variants NPHS2 gene [c.686G>A, p.(Arg229Gln) c.855_856del, p(Arg286Thrfs*17)] were found compound heterozygosity, compatible FSGS. This highlights importance detailed patients order identify form, given its therapeutic prognostic impact, including after transplantation.