A Case of Minimal Change Disease Associated to Rubinstein-Taybi Syndrome

Thabet N*, Mrabet S, Mahfoudh O, Aicha NB, Azzabi A, Sahtout W, Boukadia R, Fradi A, Guedri Y, Zellama D and Achour A

Department of Nephrology, Sahloul University Hospital, Tunisia

^*Correspondance to: Thabet N 

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Abstract:

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 poly malformative syndromes as reported in this article. We report a case of pure nephrotic syndrome in a young male patient with RSTS. It is about a 27 year old young patient diagnosed since birth with RSTS. In 1994, he was hospitalized in pediatrics with acute pyelonephritis. Retrograde Urethro Cystoscopy (RUC) showed bilateral Vesicoureteral Reflux (VUR) grade 3 with functional renal asymmetry on scintigraphy. The patient was admitted in nephrology department in 2019 with 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, a renal biopsy was performed. The biopsy showed an optically normal kidney with the presence of some meningeal Complement (C3) deposits. MCD was then retained. The patient received corticosteroid therapy with a favorable clinical and biological response. To conclude, 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.

Keywords:

Nephrotic syndrome; Minimal change disease; Rubinstein-Taybi syndrome

Cite the Article:

Thabet N, Mrabet S, Mahfoudh O, Aicha NB, Azzabi A, Sahtout W, et al. A Case of Minimal Change Disease Associated to Rubinstein-Taybi Syndrome. Ann Clin Case Rep. 2022; 7: 2234..