Mesangiocapillary Glomerulonephritis in Down’s Syndrome

Abstract

The clinical and pathologic features of progressive renal disease in 4 patients with Down’s syndrome are described. All patients were male, between 20 and 30 years of age at the time of clinical presentation. Three out of 4 had proteinuria, and 2 had hematuria. Serologic tests for hepatitis B virus infection and antinuclear antibodies performed in 2 patients were negative. Examination of renal tissue from biopsy and/or from autopsy revealed mesangiocapillary glomerulonephritis (MCGN), type 1. While an increased incidence of congenital heart disease and acute leukemias has been documented in Down’s syndrome, an association with MCGN has not been reported previously to our knowledge. This probably represents a form of idiopathic MCGN and may be related to the long survival of these individuals.

Acquired glomerular lesions in patients with Down syndrome

“…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 found in these patients was MPGN type 1 in 4, collapsing FSGS in 2, ANCA-associated crescentic GN in 2, IgAN in 1, fibrillary GN in 1, and amyloidosis in 1.…”

“…The glomerular disease found in these patients was MPGN type 1 in 4, collapsing FSGS in 2, ANCA-associated crescentic GN in 2, IgAN in 1, fibrillary GN in 1, and amyloidosis in 1. Most of these patients were published in case reports that lacked data on laboratory findings, treatment, and outcome [9][10][11][12][13][14]. There are also few published cases of glomerulopathy in DS patients that were found at autopsy [9,13,15].…”

Renal involvement in Down syndrome

“…Lo et al [19] reported that cystic dilatation of Bowman's space was more frequent than in the general population, and these findings were more common after the 1st decade of life. Acquired glomerulopathies have also been reported in DS patients, including membranoproliferative glomerulonephritis [6], inmunoctactoid glomerulopathy [7], focal and segmental sclerosis [19], amyloidosis [20] and hemolytic-uremic syndrome [9]. In addition, it has been reported that DS patients with autoimmune diseases (celiac disease, alopecia or hypothyroidism) may also present with primary glomerulonephritis [21], including two cases of antineutrophil cytoplasmic antibody-associated glomerulonephritis [22,23].…”

“…A variety of urological abnormalities have been described such as ureteropelvic junction obstruction [2], vesicoureteral reflux [3], renal hypoplasia [4], obstructive uropathy or posterior urethral valves [5]. Glomerulopathies have also been reported, including membranoproliferative glomerulonephritis [6], immunoctactoid (amyloid-like glomerular deposits) glomerulopathy [7], focal and segmental sclerosis or hypercalcemia with medullary calcinosis [8]. A growing number of patients with DS who develop chronic renal failure (CRF) requiring renal transplantation or replacement therapy has been reported [9].…”

Glomemlonephritis Associated with Robertsonian Translocation t(13;14)

“…This patient had Robertsonian translocation with underdeveloped sec ondary sexual characteristics and a small uterus. A number of genetic syndromes has been reported to be associated with nephropathy including Alport, Drash's, Wiskott Al drich and Down's syndrome [14][15][16][17]. In Wilm's tumor with nephropathy (Drash's syndrome), the hypothesis of a com mon embryo genetic defect of the urogenital ridge was suggested [12,18].…”