Saudi J Kidney Dis Transpl
Department of Pediatric Nephrology, Mansoura University Children's Hospital, Mansoura, Egypt.
Published: September 2015
Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondylo-epiphyseal dysplasia (SED), progressive renal insufficiency beginning as steroid-resistant nephrotic syndrome (SRNS) and defective cellular immunity. This article reports a case from Egypt with a mild form of SIOD. A 14.5-year-old male patient presented with disproportionate short stature, SRNS (focal and segmental glomerulosclerosis), laboratory evidence of cellular immune deficiency and radiologic characteristics of SED. He died at the age of 16.5 years with bone marrow failure and severe pneumonia. To the best of our knowledge, this is the first case of SIOD to be reported from Egypt.
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http://dx.doi.org/10.4103/1319-2442.164585 | DOI Listing |
Stem Cell Res
October 2023
Science and Technology Service Platform, Qilu University of Technology (Shandong Academy of Sciences), Ji'nan, Shandong, China. Electronic address:
A human induced pluripotent stem cell (iPSC) line (SDASi001-A) was generated from patient with Schimke immune-osseous dysplasia (SIOD), carrying heterozygous mutations in SMARCAL1 gene. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using non-integrating delivery of OCT4, SOX2, KFL4, BCL-XL and c-MYC. The iPSC line expresses pluripotency markers, displays a normal karyotype, and has the ability to differentiate into cells of three germ layers in vitro.
View Article and Find Full Text PDFMol Genet Metab Rep
December 2023
Servicio de nefrología pediátrica, Departamento de salud maternoinfantil, Fundación Valle del Lili, Cali, Colombia.
Background: Schimke immune-osseous dysplasia (SIOD) is an ultra-rare multisystemic, monogenic, and autosomal recessive inherited disease caused by biallelic mutations in the gene. Approximately 100 cases have been reported worldwide. The disease is characterized by skeletal, renal, and immunological abnormalities.
View Article and Find Full Text PDFCureus
June 2022
Neurology, All India Institute of Medical Sciences, New Delhi, IND.
Schimke immuno-osseous dysplasia (SIOD) is an uncommon autosomal recessive (AR) spondylo-epiphyseal dysplasia (SED) and its clinical course and phenotype are yet to be properly described. The phenotypic presentation is quite varied with involvement of the renal, skeletal, vascular, immune, and hematopoietic systems being the most common presentation. We describe a 19-year-old female who presented with adolescent-onset brain and skeletal involvement without renal manifestations.
View Article and Find Full Text PDFJ Int Med Res
April 2021
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. China.
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive inherited disorder that is caused by the mutation. The phenotype can vary from mild to severe on the basis of the patient's age at onset. Herein, we report the case of a 14-year-old Chinese boy who presented with short stature, focal segmental glomerulosclerosis (FSGS), and facial dysmorphism.
View Article and Find Full Text PDFTurk J Pediatr
January 2020
Department of Pediatrics Division of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Düzova A, Gülhan B, Topaloğlu R, Özaltın F, Cengiz AB, Yetimakman AF, Doğru D, Güçer Ş, Beşbaş N. BK virus associated nephropathy and severe pneumonia in a kidney transplanted adolescent with Schimke immune-osseous-dysplasia. Turk J Pediatr 2019; 61: 111-116.
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