RT Journal Article
SR Electronic
T1 Respiratory problems in Schimke immuno-osseous dysplasia [SIOD]
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP PA1313
DO 10.1183/13993003.congress-2015.PA1313
VO 46
IS suppl 59
A1 Hanna Dmenska
A1 Edyta Heropolitanska-Pliszka
A1 Barbara Pietrucha
A1 Barbara Piatosa
A1 Wioletta Jarmuzek
A1 Jacek Rubik
YR 2015
UL http://erj.ersjournals.com/content/46/suppl_59/PA1313.abstract
AB 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 disease110.10 / M3.97.710.719.5/107SA pneumonia, recurrent upper and lower respiratory tract infections210.8 / M1.69.3821.5/115pneumonia, bronchitis38.9 / F2.95.57.213.8/87congenital pneumonia, several respiratory infections, sinusitis45.9 / M1.45.04.414.2/91several mild upper respiratory tract infections* date: Dec 2014, NS-nephrotic syndrome, RT-renal transplantationThe pts characteristicConclusions: 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.