ESPN 51th Annual Meeting

ESPN 2018


 
A too late Schimke immune-osseous dysplasia diagnosis
PASQUALE FABIO BARRA 1 BRUNO MINALE 1 ANNAMARIA PAGANO 1 ELENA BRESIN 2 GABRIELE MALGIERI 1 CARMINE PECORARO 1

1- UNIT OF NEPHROLOGY AND DIALYSIS, CHILDREN HOSPITAL SANTOBONO, NAPLES, ITALY
2- IRCCS-ISTITUTO DI RICERCHE FARMACOLOGICHE "MARIO NEGRI," CENTRO DI RICERCHE CLINICHE PER LE MALATTIE RARE "ALDO E CELE DACCò," RANICA BERGAMO, ITALY
 
Introduction:

Schimke immuno-osseous dysplasia is an autosomal recessive disorder, caused by a mutation in SMARCAL1 gene, characterized, in its severe form, by  steroid resistant nephrotic syndrome, T-cell deficiency, disproportionate short stature, drug-resistant migraine and strokes and death within the first  15 years. In the mild form STROKEs and T-cell deficiency generally don’ t appear

Material and methods:

We describe a clinical case of Schimke immune-osseous dysplasia  identified  by Next Generation Sequencing (NGS)

Results:

Benedetto T. came to our attention at the age of 14 years and 6 months for nephrotic syndrome and kidney failure. His medical history was characterized by GH-not responsive disproportionate short stature, diagnosis of brachyolmia (etherozygosis type c.1790 delA) and episodes of confusional state and dysarthria labeled as TIA. He came to our structure transferred from another hospital where was hospitalized for a FOP surgery correction, during which he had neurological symptoms that led to angio-RM, TC and EEG. None pathological signs were found. Hematologic exams showed increased creatinine values (1,6 mg/dL).
We noticed the same creatinine values, proteinuria (7,2 g/24h) and low values of T-cells. A renal biopsy found FSGS; blood sample for NGS found a SMARCAL1 compound heterozygosis mutation (p.R247P and p.W277X).During the follow-up Benedetto presented: non responsive high blood pressure, non responsive migraine episodes with negative neuroimaging and a progressive worsening of renal function that required peritoneal dialysis in forward to renal transplant.

Conclusions:

We would remark how important is to evaluate creatinine and proteinuria in dysmorphic patients with disproportionate short stature to achieve an earlier diagnosis.