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Respiratory problems in Schimke immuno-osseous dysplasia [SIOD]

Hanna Dmenska, Edyta Heropolitanska-Pliszka, Barbara Pietrucha, Barbara Piatosa, Wioletta Jarmuzek, Jacek Rubik
European Respiratory Journal 2015 46: PA1313; DOI: 10.1183/13993003.congress-2015.PA1313
Hanna Dmenska
1The Pulmonology Outpatients' Clinic, The Children's Memorial Health Institute, Warsaw, Poland
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Edyta Heropolitanska-Pliszka
2Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland
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Barbara Pietrucha
2Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland
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Barbara Piatosa
3Histocompatibility Laboratory, The Children's Memorial Health Institute, Warsaw, Poland
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Wioletta Jarmuzek
4Department of Nephrology and Kidney Transplantation, The Children's Memorial Health Institute, Warsaw, Poland
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Jacek Rubik
4Department of Nephrology and Kidney Transplantation, The Children's Memorial Health Institute, Warsaw, Poland
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Abstract

SIOD is an autosomal recessive disorder caused by mutations in SMARCAL 1 gene. It is characterized by spondyloepiphyseal dysplasia with disproportionate short stature, facial dysmorphism, nephrotic syndrome with focal glomerulosclerosis and progressive renal failure, recurrent lymphopenia, T-cell immunodeficiency and pigment naevi. The prevalence of SOID is estimated at 1 in 1-3 mln live births.

Aim: To present clinical observations in pts with SIOD.

Material: A retrospective review of 4 case reports of SIOD pts.

Results: Molecular analysis confirmed different mutations in SMARCAL 1 gene in pts and their parents. Pts 2 and 4 were related. The pts were born with intrauterine growth restriction but no SIOD features were observed. They appeared with time. Because of terminal renal failure all pts underwent RT. Primary immunodeficiency was also observed.

There were respiratory symptoms present. They ranged from staphylococcal (SA) pneumonia (pt 1) to mild upper respiratory tract infections (pt 4). Chest X-rays were normal.

No of ptage*/ sexonset of NS [yrs]age of RT [yrs]age of SMARCAL 1 identification [yrs]weight/height* [kg/cm]respiratory disease
110.10 / M3.97.710.719.5/107SA pneumonia, recurrent upper and lower respiratory tract infections
210.8 / M1.69.3821.5/115pneumonia, bronchitis
38.9 / F2.95.57.213.8/87congenital pneumonia, several respiratory infections, sinusitis
45.9 / M1.45.04.414.2/91several mild upper respiratory tract infections
  • * date: Dec 2014, NS-nephrotic syndrome, RT-renal transplantation

  • The pts characteristic

    Conclusions: It may be possible that differences in frequency and severity of respiratory infections in SIOD pts are due to different mutations in SMARCAL 1 gene.

    • Orphan disease
    • Congenital lesion/malformation
    • Genetics
    • Copyright ©ERS 2015
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    Respiratory problems in Schimke immuno-osseous dysplasia [SIOD]
    Hanna Dmenska, Edyta Heropolitanska-Pliszka, Barbara Pietrucha, Barbara Piatosa, Wioletta Jarmuzek, Jacek Rubik
    European Respiratory Journal Sep 2015, 46 (suppl 59) PA1313; DOI: 10.1183/13993003.congress-2015.PA1313

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    Respiratory problems in Schimke immuno-osseous dysplasia [SIOD]
    Hanna Dmenska, Edyta Heropolitanska-Pliszka, Barbara Pietrucha, Barbara Piatosa, Wioletta Jarmuzek, Jacek Rubik
    European Respiratory Journal Sep 2015, 46 (suppl 59) PA1313; DOI: 10.1183/13993003.congress-2015.PA1313
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