Schimke immuno-osseous dysplasia

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Schimke immuno-osseous dysplasia

An autosomal recessive condition (OMIM:242900) characterised by spondyloepiphyseal dysplasia with growth retardation, renal failure, T-cell immunodeficiency and recurrent infections, skin pigmentation beginning in childhood and, in about half of patients, hyperthyroidism; about half have episodic cerebral ischaemia with infarcts.

Molecular pathology
Defects of SMARCAL1, which encodes a protein with helicase and ATPase activities that regulates gene transcription, cause Schimke immuno-osseous dysplasia.
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Although hypertension, hyperlipidemia, proteinuria and ESRD which were also found in our patient are significant risk factors for atherosclerosis, symptoms of cerebrovascular ischemia have been observed in patients with SIOD even before renal disease started (13).
Conclusively, SIOD should be considered especially in patients with steroid-resistant nephrotic syndrome displaying disproportionate growth failure and other common and life-threatening findings should be investigated.
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