Membranous nephropathy in Schimke immuno-osseous dysplasia.
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.
Paediatric Nephrology, Marmara University, Istanbul, Turkey.
Nihal
N
Ozdemir
Harika
H
Alpay
Abdullah
A
Bereket
Gamze
G
Bereket
Neşe
N
Biyikli
Metin
M
Aydoğan
Fulya
F
Cakalağoğlu
Işin
I
Kiliçaslan
Ihsan
I
Akpinar
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002648:Child; D005145:Face / Q000002:abnormalities; D015433:Glomerulonephritis, Membranous / Q000175:diagnosis* / Q000473:pathology; D006130:Growth Disorders / Q000175:diagnosis*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D013577:Syndrome