A CASE REPORT OF SCHIMKE IMMUNO-OSSEOUS DYSPLASIA: A RARE AUTOSOMAL RECESSIVE DISORDER

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ARAD BANAFSHEH; PIRZADEH ZAHRA

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Journal Paper

Paper Information

Journal: Journal of Pediatric Perspectives Year:2018 | Volume:6 | Issue:2 (50) Page(s): 7151-7155

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Information Journal Paper

Title

A CASE REPORT OF SCHIMKE IMMUNO-OSSEOUS DYSPLASIA: A RARE AUTOSOMAL RECESSIVE DISORDER

Author(s)

ARAD BANAFSHEH | PIRZADEH ZAHRA | Issue Writer Certificate

Keywords

CASE REPORT

CHILD

LYMPHOPENIA

SCHIMKE-IMMUNO-OSSEOUS DYSPLASIA

Abstract

Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presented with specific facial features, skeletal dysplasia, steroid resistance nephrotic syndrome (SRNS) and cellular immune insufficiency. This is a SIOD CASE REPORTed from Iran. He was 5 years old boy when evaluated for proteinuria and short stature. In appearance, we detected hyperpigmented macules, kyphoscoliosis, and warty lesions. He developed progressive renal failure and steroid resistant nephrotic syndrome, so kidney biopsy was performed and revealed focal and segmental glomerulosclerosis. He didn’t respond to prednisolone and Calcineurin inhibitors. He had recurrent LYMPHOPENIA with low CD4/CD8 ratio.However LYMPHOPENIA respond to granulocyte colony-stimulating factor (G-CSF), he died with pneumonia and sepsis. Nephrotic syndrome due to focal segmental glomerulosclerosis may be accompanied by syndromes. In Qazvin province, we see autosomal recessive disorders more, because of consanguineous marriages. To the best of our knowledge, this is the fourth case of SIOD to be reported from Iran.

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APA: Copy

ARAD, BANAFSHEH, & PIRZADEH, ZAHRA. (2018). A CASE REPORT OF SCHIMKE IMMUNO-OSSEOUS DYSPLASIA: A RARE AUTOSOMAL RECESSIVE DISORDER. INTERNATIONAL JOURNAL OF PEDIATRICS, 6(2 (50)), 7151-7155. SID. https://sid.ir/paper/337367/en

Vancouver: Copy

ARAD BANAFSHEH, PIRZADEH ZAHRA. A CASE REPORT OF SCHIMKE IMMUNO-OSSEOUS DYSPLASIA: A RARE AUTOSOMAL RECESSIVE DISORDER. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2018;6(2 (50)):7151-7155. Available from: https://sid.ir/paper/337367/en

IEEE: Copy

BANAFSHEH ARAD, and ZAHRA PIRZADEH, “A CASE REPORT OF SCHIMKE IMMUNO-OSSEOUS DYSPLASIA: A RARE AUTOSOMAL RECESSIVE DISORDER,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 6, no. 2 (50), pp. 7151–7155, 2018, [Online]. Available: https://sid.ir/paper/337367/en

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