Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic

Ital J Pediatr. 2023 Jan 19;49(1):11. doi: 10.1186/s13052-023-01413-y.

Abstract

Background: Schimke immunoosseous dysplasia (SIOD) is an ultra-rare inherited disease affecting many organ systems. Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid resistant nephrotic syndrome are the main symptoms of this disease.

Case presentation: We aimed to characterize the clinical, pathological and genetic features of SIOD patients received at tertiary Pediatric Nephrology Center, University Hospital Motol, Prague, Czech Republic during the period 2001-2021. The mean age at diagnosis was 21 months (range 18-48 months). All patients presented with growth failure, nephropathy and immunodeficiency. Infections and neurologic complications were present in most of the affected children during the course of the disease.

Conclusions: Although SIOD is a disease characterized by specific features, the individual phenotype may differ. Neurologic signs can severely affect the quality of life; the view on the management of SIOD is not uniform. Currently, new therapeutic methods are required.

Keywords: Case series; Chronic kidney disease; Nephropathy; Schimke immunoosseous dysplasia; Transient ischemic attacks; Transplantation.

Publication types

  • Case Reports

MeSH terms

  • Arteriosclerosis
  • Czech Republic
  • Humans
  • Immunologic Deficiency Syndromes* / complications
  • Immunologic Deficiency Syndromes* / diagnosis
  • Immunologic Deficiency Syndromes* / genetics
  • Nephrotic Syndrome* / complications
  • Nephrotic Syndrome* / diagnosis
  • Nephrotic Syndrome* / genetics
  • Osteochondrodysplasias* / diagnosis
  • Osteochondrodysplasias* / genetics
  • Osteochondrodysplasias* / therapy
  • Primary Immunodeficiency Diseases
  • Pulmonary Embolism
  • Quality of Life
  • Rare Diseases
  • Tertiary Care Centers

Supplementary concepts

  • Schimke immunoosseous dysplasia