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 s...

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Published inNederlands tijdschrift voor geneeskunde Vol. 149; no. 39; p. 2178
Main Authors de Jong, M, van Wijk, J A E, van der Hulst, J P C M, Ludwig, M, Bökenkamp, A
Format Journal Article
LanguageDutch
Published Netherlands 24.09.2005
Subjects
Body Height - genetics
Bone and Bones - abnormalities
Child
Consanguinity
Humans
Kidney Diseases - etiology
Kidney Diseases - prevention & control
Lymphopenia - etiology
Lymphopenia - prevention & control
Male
Nephrotic Syndrome - diagnosis
Nephrotic Syndrome - etiology
Nephrotic Syndrome - therapy
Osteochondrodysplasias - complications
Osteochondrodysplasias - genetics
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Summary: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.
ISSN:0028-2162