Membranous nephropathy in Schimke immuno-osseous dysplasia

Abstract

Schimke immuno-osseous dysplasia is a rare autosomal recessive multi-system disorder, with clinical features of growth retardation, spondylo-epiphyseal dysplasia, nephrotic syndrome and immunodeficiency beginning in childhood. Here, we report a new case, in a 10-year-old boy with characteristic symptoms of Schimke immuno-osseous dysplasia. The patient presented with short stature and, later, developed nephrotic syndrome and peritonitis. In addition, he had perinuclear anti-neutrophilic cytoplasmic antibody (p-ANCA)-positive arthritis. Renal pathology of the patients with this disease usually show focal segmental glomerulonephritis, whereas our patient had membranous nephropathy, which has not previously been reported.

Medullary nephrocalcinosis in Schimke immuno‐osseous dysplasia

“…Nevertheless, minimal change disease, mesangial proliferative glomerulonephritis, membranous nephropathy and nephronophthisis have also been described in SIOD. 2,6 The present patient did not exhibit a traditional clinical picture of nephrotic syndrome as previously described. The nephrotic proteinuria, hyperlipidemia, hypertension and renal biopsy findings suggested an evolving FSGS.…”

A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)

“…Renal biopsy revealed FSGS, which is the most frequent renal pathological finding associated with SIOD, as described in a revision of 39 SIOD cases with proteinuria [18]. Nevertheless cases of minimal change disease, membranous nephropathy, mesangial proliferative glomerulonephritis and nephrophthisis have been also described [15,18]. Kidney involvement in SIOD patients displays typically proteinuria evolving to overt nephrotic syndrome, usually diagnosed between 1–14 years [4-6,9].…”

Skeletal and Joint Manifestations of Primary Immunodeficiency Diseases

“…A cartilage hair hypoplasia patient was found to have aseptic arthritis [33], while another patient was found to have brachydactyly and femoral bone widening [34]. Aseptic arthritis, platyspondyly, phalangeal anomaly, and clinodactyly have been observed in Schimke syndrome [35,36]. Autosomal dominant Hyper IgE Syndrome, which is caused by mutation of STAT-3, is associated with increased frequency of fractures, 66% hyperextensibility (66%), scoliosis (63%), osteopenia (40%), osteoporosis (20%), aseptic arthritis (8%), and septic arthritis (17%) [37][38][39][40][41][42][43].…”