A case of minimal change disease associated to Rubinstein Taybi syndrome

Abstract

Introduction: Focal segmental glomerulosclerosis (FSGS) is the main glomerular nephropathy secondary to malformative uropathies. The latter can be included in the poly malformative syndromes in the pediatric population. However, other glomerular impairments may rarely be associated with some polymalformative syndromes as reported in this rare case of a minimal change disease (MCD) associated with Rubinstein Taybi syndrome (RSTS). Materials and methods: We report a case of pure nephrotic syndrome in a young male patient with RSTS. Case presentation: It is about a 27 year old young patient diagnosed since birth with a Rubinstein Taybi. In 1994, he was hospitalized in pediatrics for acute pyelonephritis. Retrograde urethrocystoscopy (RUC) showed bilateral vesicoureteral reflux (VUR) grade 3 with functional renal asymmetry on scintigraphy. The patient was admitted in nephrology department in 2019 for a pure and intense nephrotic syndrome with abrupt onset. The initial diagnosis retained was glomerular nephropathy particularly a FSGS secondary to his malformative uropathy. Subsequently, in view of the persistence of an intense nephrotic syndrome, the absence of VUR at the RUC, as well as the functional renal symmetry at the scintigraphy, it was decided to perform a renal biopsy. The biopsy showed an optically normal kidney with the presence of some meningial C3 deposits. MCD was then retained. The patient received corticosteroid therapy with a favorable clinical and biological response. Conclusion: Even if reflux nephropathy remains the most frequent cause of glomerulopathy secondary to malformative uropathy, we should not hesitate to perform a renal biopsy in front of an intense nephrotic syndrome with no functional renal impact of the VUR.