Acquired Glomerular Lesions in Patients with Down Syndrome.
Samar Said, Lynn Cornell, Sanjeev Sethi, Mary Fidler, Omar Al Masri, Jeffrey Marple, Samih Nasr. Mayo Clinic, Rochester; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates; Lincoln Nephrology & Hypertension, Lincoln
Background: The long-term survival of persons with Down syndrome has dramatically increased over the past 50 years, largely due to improvement in medical care. Renal disease is thought to be infrequent in these patients (pts) and data regarding renal biopsy are very limited. The aim of this study was to examine the clinicopathologic spectrum of pts with Down syndrome who underwent renal biopsy.
Design: We reviewed the characteristics of 16 pts with Down syndrome who underwent native renal biopsies that were processed at our laboratory from 1997 to 2010.
Results: The mean age at biopsy was 28 yrs (range 13-45). Eleven pts were Caucasian and 5 were African Americans. The male:female ratio was 1.6:1. History of hypothyroidism was present in 6 pts, congenital heart disease in 2, and congential urologic abnormalities in 1. Clinical presentations included renal insufficiency (15 pts, mean S. creatinine 3.4 mg/dl (range 0.7-15)), proteinuria (all pts, including 2 with nephrotic syndrome, mean 24h urine protein 3.6 g (range 0.4-24)), and hematuria (14 pts, including 3 with gross hematuria). The glomerular diseases found on biopsy were IgA nephropathy (IgAN)(n=5 pts), focal segmental glomerulosclerosis (FSGS) (n=3), membranoproliferative GN (MPGN) (n=2), acute post-infectious GN (APIGN) (n=2), ANCA-associated pauci-immune crescentic GN (PICGN)(n=2), membranous GN (n=1) and lupus nephritis (LN) class III (n=1). Mild dilatation of the urinary space was seen in 7 pts. Follow up (mean 47 mos, range 2-141) was available on 15 pts (94%). Two pts had complete remission; 1 of whom had nephrotic syndrome due to membranous GN that was treated with immunosuppressive agents (IS) (steroids and cyclophosphamide) and the other one had nephritic syndrome due to APIGN that was treated with IS (steroids). Eight pts (4 with IgAN, 2 with FSGS, 1 with LN III, and 1 with APIGN) had persistent renal dysfunction. Three of these pts (1 with IgAN, 1 with FSGS, and 1 with LN III) were treated with IS. The remaining 5 pts (2 with PICGN, 2 with MPGN, and 1 with FSGS) progressed to ESRD, 2 of whom died. Three of these 5 pts (2 with PICGN and 1 with MPGN) were treated with IS. One pt with MPGN received a succesful kidney transplant without histologic evidence of recurrence.
Conclusions: With prolonged survival, a growing number of pts with Down syndrome is expected to develop renal disease. A wide spectrum of acquired glomerular diseases can be seen in these pts. Renal biopsy is necessary to determine the type of glomerular lesion, appropriate treatment, and prognosis.
Category: Kidney (does not include tumors)
Wednesday, March 2, 2011 1:00 PM
Poster Session VI # 254, Wednesday Afternoon