Schimke Immunoosseous dysplasia

Immunoosseous dysplasia of the Schimke type is an autosomal recessive disorder characterized by skeletal abnormalities, T-cell defects, and nephrotic type progressive nephritis. Mutations of the SMARCAL1 gene are responsible for the disease.

Historical Aspects

The disease was first described, when Schimke in 1971 published a case report.[Error: Macro 'ref' doesn't exist]

Clinical Findings

Schimke immunoosseous dysplasia (SIOD) is characterized by bone abnormalities, nephrotic syndrome, and T-cell deficiency. The disproportionate short stature is the result of spondyloepiphyseal dysplasia. Other radiological findings are ovoid and mildly flattened vertebral bodies, small deformed capital femoral epiphyses, and shallow dysplastic acetabular fossae.

The patient are diagnosed with steroid resistant nephrotic syndrome within 5 years after growth retardation becomes obvious. Renal injury develops into end stage renal failure.

Systematic

Nephrotic syndrome
	Congenital nephrotic syndrome type 01 (Finnish type)
	Congenital nephrotic syndrome type 02
	Congenital nephrotic syndrome type 03
	Congenital nephrotic syndrome type 04
	Congenital nephrotic syndrome type 05 (Pierson syndrome)
	Congenital nephrotic syndrome type 06
	Congenital nephrotic syndrome type 07
	Congenital nephrotic syndrome type 08
	Congenital nephrotic syndrome type 09
	Congenital nephrotic syndrome type 10
	Congenital nephrotic syndrome type 11
	Congenital nephrotic syndrome type 12
	Congenital nephrotic syndrome type 13
	Donnai-Barrow syndrome
	GPC5
	Glomerulotubular nephropathy
	Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
	Lipoprotein glomerulopathy
	Schimke Immunoosseous dysplasia
		SMARCAL1
	XPO5