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 pt | age*/ sex | onset of NS [yrs] | age of RT [yrs] | age of SMARCAL 1 identification [yrs] | weight/height* [kg/cm] | respiratory disease |
| 1 | 10.10 / M | 3.9 | 7.7 | 10.7 | 19.5/107 | SA pneumonia, recurrent upper and lower respiratory tract infections |
| 2 | 10.8 / M | 1.6 | 9.3 | 8 | 21.5/115 | pneumonia, bronchitis |
| 3 | 8.9 / F | 2.9 | 5.5 | 7.2 | 13.8/87 | congenital pneumonia, several respiratory infections, sinusitis |
| 4 | 5.9 / M | 1.4 | 5.0 | 4.4 | 14.2/91 | several 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.
- Copyright ©ERS 2015
