[Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome].
A 10-year-old Turkish boy with consanguineous parents was presented with a disproportionately short stature and a nephrotic syndrome. The mild form of Schimke's immuno-osseous dysplasia was diagnosed as the common cause. This rare, autosomal recessive osteochondrodysplasia is characterised by spondyloepiphyseal dysplasia, facial dysmorphism, T-cell immunodeficiency and progressive renal failure due to focal segmental glomerulosclerosis. In Schimke's immuno-osseous dysplasia, a severe early-onset form and a milder later-onset form can be distinguished on the basis of the clinical course. The patient was treated by fluid and salt restriction, enalapril and later also losartan, which led to a decrease in the proteinuria and an increase in serum albumin concentration. Two years later, the renal function was still normal.
de Jong
M
M
VU Medisch Centrum, afd Kindergeneeskunde, Amsterdam. m.de.jong@vumc.nl
van Wijk
J A E
JA
van der Hulst
J P C M
JP
Ludwig
M
M
Bökenkamp
A
A
D001827:Body Height / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D003241:Consanguinity; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology / Q000517:prevention & control; D008231:Lymphopenia / Q000209:etiology / Q000517:prevention & control; D008297:Male; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics*