Acquired glomerular lesions in patients with Down syndrome

Said, Samar M.; Cornell, Lynn D.; Sethi, Sanjeev; Fidler, Mary E.; Masri, Omar; Marple, Jeffrey; Nasr, Samih H.

doi:10.1016/j.humpath.2011.04.009

Cited by 13 publications

(12 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There are no studies addressing the spectrum of glomerular lesions in these patients. Said et al [9] reported 17 patients with DS who underwent renal biopsy. Renal involvement included renal failure, proteinuria, and hematuria.…”

Section: Discussion and Brief Reviewmentioning

confidence: 99%

Down Syndrome with End-Stage Renal Disease

et al. 2013

View full text Add to dashboard Cite

Down syndrome is one of the most common genetic causes of learning disabilities in children. Although the incidence of renal and urological involvement in Down syndrome is not very common, monitoring of patients with Down syndrome for renal diseases should be done regularly as patient's age into the second and third decades. With increased survival, it appears that a growing number of these patients present with chronic renal failure. Down syndrome patients are apparently not suited for peritoneal dialysis because of lacking cooperation. This procedure can be prone to failure, mainly because of an increased risk of peritonitis. Handling such patients especially those on peritoneal dialysis is challenging. Here we report a case of Down syndrome with end-stage renal disease treated with hemodialysis for 6 months. To the best of our knowledge and current literature review this is the first case report of a patient with Down syndrome undergoing hemodialysis.

show abstract

Section: Discussion and Brief Reviewmentioning

confidence: 99%

Down Syndrome with End-Stage Renal Disease

et al. 2013

View full text Add to dashboard Cite

show abstract

“…Of the 22 biopsies with negative autoantigen staining (negative for PLA2R, NELL1, THSD7A, SEMA3B, and EXT2), only 4 patients (cases 4, 5, 7, 15) had an identifiable potential etiological comorbidity (lysinuric protein intolerance, recurrent urinary tract infections, hypothyroidism, and Down's syndrome) [21][22][23]. The remaining 18 cases were best classified as idiopathic MN.…”

Section: Discussionmentioning

confidence: 99%

Clinicopathologic features of non-lupus membranous nephropathy in a pediatric population

Miller

Charu

et al. 2022

Pediatr Nephrol

View full text Add to dashboard Cite

Background Membranous nephropathy is an uncommon cause of nephrotic syndrome in pediatrics. Methods We reviewed our kidney biopsy records for patients ≤ 20 years of age with membranous nephropathy without evidence of systemic lupus erythematosus within 6 months of biopsy (January 1995-September 2020). Staining for PLA2R, NELL1, THSD7A, SEMA3B, EXT2 (3 biopsies), and IgG-subclass were performed. Results Sixteen children (≤ 12 years) and 25 adolescents (13-20 years) were identified. Four children and 15 adolescents showed autoantigen positivity: PLA2R+/SEMA3B-( 13), SEMA3B+/PLA2R+ (2), SEMA3B+/PLA2R− (1), NELL1 (1), EXT2+ (2), and THSD7A (0). Co-morbidities associated with PLA2R positivity included IPEX syndrome, active hepatitis B, Von Hippel Lindau syndrome, solitary kidney, type 1 diabetes, hyperuricemia, pregnancy (1), obesity (3), type II diabetes, H. pylori, viral prodrome, and nephrolithiasis. The SEMA3B+/PLA2R− adolescent was pregnant, the NELL1+ adolescent was obese, and the two EXT2+ adolescents eventually met the clinical criteria for lupus (4, 9 years post-biopsy). Co-morbidities among the remaining 24 patients included remote hepatitis B (2), Down's syndrome, lysinuric protein intolerance, recurrent UTIs, hypothyroidism, pregnancy (3), and obesity (2). Follow-up data was available for 12 children and 16 adolescents. Of the 12 children, 6 achieved complete remission, 4 achieved partial remission, and 2 had no response to treatment (1 transplant). Of the 16 adolescents, 4 achieved complete remission, 4 achieved partial remission, and 8 had no response to treatment (3 transplants). A child with "full-house" immunofluorescence staining achieved spontaneous disease remission. Conclusion Our non-lupus membranous nephropathy cohort represents one of the largest pediatric studies to date.

show abstract

“…More recently, Said et al. 14 reviewed kidney biopsies from 17 persons with DS for causes including elevated creatinine, hematuria, and proteinuria. They found a wide spectrum of glomerular lesions in this patient group (ages 6–45 years), including IgA nephropathy (5 cases), focal segmental glomerular sclerosis (4), membranoproliferative glomerulonephritis (2), postinfectious glomerulonephritis (2), pauci-immune glomerulonephritis (2), membranous nephropathy (1), and lupus nephritis (1).…”

Section: Discussionmentioning

confidence: 99%