Schimke immuno-osseous dysplasia: a mini-review, series of clinical cases and experience of management after kidney transplantation

Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by the combination of spondyloepiphyseal dysplasia with growth retardation, progressive proteinuric glomerulopathy, specific phenotype, and T-cell immunodeficiency. Clinical cases of an 11-year-old boy and a 15-year-old girl are presented. The boy was born full-termed with intrauterine growth retardation from healthy unrelated parents. The girl was born prematurely from healthy parents with burdened family history (a younger brother with chronic kidney disease 5 (CKD G5) died at the age of 6). The patients have the phenotypic features of SIOD. In both cases, from the first year of life, there was growth retardation and skeletal disorders. At the age of 4 years in the boy and 14 years in the girl nephrotic syndrome refractory to pathogenic treatment occurred, which led to the CKD G5. Later after kidney transplantation, the boy had recurrent infections, seizures, stroke. The minimization of infectious complications was achieved with a 2-component therapy regimen (methylprednisolone and tacrolimus), excluding mycophenolate mofetil. Both children have T-cell deficiency and hypothyroidism. Only after kidney transplantation in the boy and the onset of CKD G5 in the girl was SIOD suspected. A compound heterozygous mutation in the SMARCAL1 gene was revealed by NGS: an identical pathogenic mutation c.G2542T (p.E848X) was found in exon 17 in both cases; in the boy c.C2290T (p.R764W), in the girl c.C2290G (p.R764G) were revealed in exon 15. The presence of nephrotic syndrome, especially morphologically focal segmental glomerulosclerosis, with pronounced growth retardation in a child at the onset of the disease should always alert doctors in terms of the diagnosis of Schimke syndrome.

Schimke immuno-osseous dysplasia, nephrotic syndrome, focal segmental glomerulosclerosis, kidney transplantation, SMARCAL1

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