ABSTRACT
Introduction: Down syndrome (DS) is a genetic disorder that affects multiple organs but glomerular lesions were reported only in case reports such as focal segmental glomerulosclerosis (FSGS), and Membranoproliferative glomerulonephritis (MPGN). Case presentation: A 14-year-old male child with DS was presented with generalized edema over three months. Laboratory tests revealed nephrotic syndrome (NS) and urinary tract infection (UTI). Renal ultrasound consisted with CKD. Kidney biopsy corresponded with MPGN. Also, all investigations for secondary underlying disorders came back negative suggesting the idiopathic form. Moreover, the status complicated with cerebrovascular accident (CVA), which has not been described in a DS- patient with glomerulonephritis. Discussion/conclusion: The relationship between DS and the incidence of glomerulonephritis is unclear. we suggest regular monitoring of renal function and urinalysis in different-age patients with Down syndrome, because early detection of renal disorders may prevent or slow down the progression and could be beneficial for increasing survival.
ABSTRACT
Nephropathic cystinosis (NC) is a rare autosomal recessive disease, which causes cysteine-crystals accumulation with progression to end-stage renal disease (ESRD). Von willebrand disease (VWD) type III is a rare subtype of von willebrand factor (VWF) abnormality, which is characterized by severe reduction of VWF and factor VIII activity. A 16-year-old patient with NC and VWD type III presented with uremic symptoms due to ESRD. Dialysis access was inserted and followed by hemodialysis (HD) for 4 months with a proper infusion of blood products. While renal transplant remains the treatment of choice of NC and superior to chronic HD, bleeding complications were a major concern in this case with coexisting VWD type III. However, with the meticulous implementation of the Hematology team's daily recommendations, renal transplantation was successfully performed. This is the first case that mentions a new association between two inherited rare disorders, NC and VWD type III, and this entity has not been reported before. Moreover, successful kidney transplantation in our patient supports the possibility of these procedures in hereditary clotting disorders.