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.
Ozdemir
Nihal
N
Paediatric Nephrology, Marmara University, Istanbul, Turkey.
Alpay
Harika
H
Bereket
Abdullah
A
Bereket
Gamze
G
Biyikli
Neşe
N
Aydoğan
Metin
M
Cakalağoğlu
Fulya
F
Kiliçaslan
Işin
I
Akpinar
Ihsan
I
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