Original contributionAcquired glomerular lesions in patients with Down syndrome
Introduction
Down syndrome (DS) is the most common chromosome abnormality among liveborn infants. The long-term survival of persons with DS has dramatically increased over the past 50 years, largely because of improvement in medical care [1], [2]. Recent data indicate that the prevalence of DS is increasing likely because of the prolonged survival and increased maternal age, which outweigh the effect of antenatal diagnosis with subsequent pregnancy termination [3], [4]. Patients with DS have an increased risk of congenital heart disease (particularly atrioventricular septal defect and ventricular septal defect), gastrointestinal tract anomalies, autoimmune disorders (particularly hypothyroidism, celiac disease and diabetes), hematologic disorders (especially polycythemia and leukemia), hearing loss, eye problems, obesity, immune deficiency, and urinary tract anomalies (including anterior urethral obstruction, hypospadias, cystic dysplastic kidney, renal hypoplasia, and hydronephrosis) [5], [6].
Recent data suggest that glomerular disease in patients with DS is not as rare as previously thought. In a recent cross-sectional study from Spain of 69 patients with DS, aged 1 to 24 years, who were followed up in a pediatric genetics unit, 8 were found to have incidental renal disease, including chronic renal failure in 3, mild proteinuria in 3, and microscopic hematuria in 2 [7]. Renal biopsies were not performed. The diagnosis and management of glomerular disease in patients with DS are more challenging than those in the general population because of noncompliance with investigations and treatment due to learning challenges and the frequent comorbidities. Therefore, there is a need for studies specifically addressing the clinical-pathologic characteristics, treatment, and outcome in these patients. Such studies are lacking in the literature. Herein, we conducted a detailed clinical-pathologic study of 17 patients with DS who underwent a kidney biopsy for renal dysfunction.
Section snippets
Materials and methods
We reviewed the renal pathology archives at Mayo Clinic, Rochester, MN, from 1994 to 2010, and identified 18 native kidney biopsies from 17 patients with DS and renal dysfunction. For light microscopy (LM), all cases were stained with hematoxylin and eosin, periodic acid–Schiff, Masson's trichrome, and Jones methenamine silver. Standard immunofluorescence (IF) on frozen tissue was performed in 15 biopsies with available glomeruli. In 2 biopsies, glomeruli were lacking on frozen tissue and
Clinical data of the entire cohort
The clinical characteristics of all 17 patients are summarized in Table 1. The cohort consisted of 10 males and 7 females. The mean age at biopsy was 29 years (range, 6-45 years). There were 14 adults (aged ≥16 years) and 3 children. Twelve patients were whites and 5 were African Americans. Known DS-associated congenital anomalies were present in 4 patients; 3 had congenital heart disease (patent foramen ovale in 2 and ventricular septal defect in 1) and 1 had complex congenital urologic
Discussion
This study details the clinical features, pathologic findings, and outcome of 17 mostly young adult patients with DS who underwent kidney biopsy for renal dysfunction. We identified a variety of glomerular lesions in these patients, including IgAN, FSGS, MPGN, APIGN, pauci-immune crescentic GN, MGN, and lupus nephritis. In addition to our series, there have been 11 previously reported DS patients with biopsy-proven glomerular disease [9], [10], [11], [12], [13], [14]. The glomerular disease
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Primary membranoproliferative glomerulonephritis in a child with down syndrome complicated with CVA: A case report
2022, Annals of Medicine and SurgeryCitation Excerpt :DS associates with a wide variety of abnormalities that is characterized by congenital heart anomalies, autoimmune disorders, hematologic disorders, and urinary tract anomalies (such as dysplastic kidney and renal hypoplasia) [2,3]. To our knowledge, Glomerular lesions in the context of DS were only reported in case reports, such as focal segmental glomerulosclerosis (FSGS) [2,4], IgA nephropathy, membranous glomerulonephritis, Pauci-immune crescentic GN, Lupus nephritis [2], ANCA-associated glomerulonephritis [5], and Membranoproliferative GN (MPGN) [2,6,7]. This report described a patient with down syndrome who presented with nephrotic syndrome and CKD.
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2019, Life SciencesCitation Excerpt :In the kidneys, the mechanisms involved in the exacerbated production of Aβ42 have not been investigated in experimental models, and humans with DS. Among the nephropathies described in DS, the presence of chronic renal failure may represent a risk for the appearance of other renal diseases [5,6,11]. Kidney failure may progress to chronic kidney disease (CKD), favoring the appearance of complications and comorbidities [12,13].
Kidney Transplant Outcomes in 2 Adults With Down Syndrome
2018, Kidney International ReportsCitation Excerpt :The findings were nonspecific, and the authors could not say whether they had any significance in DS.13 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).