ESPN 50th Annual Meeting

ESPN 2017


 
THE ROLE OF NEU1 GENE İN THE ETIOPATHOGENESİS OF HENOCH SCHÖNLEİN VASCULİTİS AND ITS RELATİONSHİP WİTH RENAL İNVOLVEMENT
NEZIHE BILGE BAHÇECI 1 Pelin Ertan 2 Selçuk Yüksel 3 Nalan Neşe 4 Gönül Dinç Horasan 5 Afig Berdeli 6

1- Celal Bayar University Pediatry, MANISA TURKIYE
2- Celal Bayar University Pediatry nephrology, MANISA TURKIYE
3- Pamukkale University Pediatric Nephrology, DENIZLI TURKIYE
4- Celal Bayar University Pathology, MANISA TURKIYE
5- Celal Bayar University Biostatistic, MANISA TURKIYE
6- Ege University Laboratory of Molecular Medicine, IZMIR TURKIYE
 
Introduction:

Henoch-Schönlein Vaskulitis (HSV) is a small vessel vasculitis which is seen common in pediatric population.The incidence is 14-18 / 100.000 children per year. Renal involvement is the determinant factor in prognosis. Because it is  known that neurominidase 1 (NEU1) gene, which is cellular lysosomal sialidase and responsible for the sialization of IgA molecule and the defects in the sialization steps cause IgA accumulation in the vascular wall, we investigated expression of NEU1 gene in our HSV-diagnosed patients and tried to clarify its role in the disease formation. 


 

 

Material and methods:

Fifty patients with HSV renal involvement and 50 healthy control groups were included in this study. Patients were evaluated for demographics and NEU1 gene mutation. NEU1 gene analysis was performed by the PCR method.

Results:

Forty-nine comma four percent of the patients were male and 50.6% were female. Seventy comma one percents’ had renal involvement at different grades. The average age of the patients was 10.21 (± 3.95). The forty percent of control group was male and 60% was female. The average age of the control group was 11.24 (± 4.16). At the time of application, 41.4% of the patients had abdominal pain, 95.4% had rash, 2.3% had edema and 31% had arthritis / arthralgia. Patients were most frequently diagnosed during the autumn season with %31. Patients’ 21,8% have passed the URI in the last two weeks. Presence of hypertension at the time of diagnosis was 6.9%. Kidney involvement was detected in 60.9% of patients, GIS involvement in 16.1% and scrotal involvement in 1 person. None of the patients had any abnormality in renal function tests and coagulation tests. Significant proteinuria was present in 66.7% of the patients and hematuria was detected in 73.6% of the patients. Skin biopsy was performed and all of the patients were found compatible with leukocytoclastic vasculitis. Renal biopsy was performed eleven patients and all of them were detected compatible with IgA nephropathy. When the biochemical laboratory parameters was evaluated  between the patients groups and control group, no significant difference was found. The urine findings of the patients with renal involvement was significantly different from those without renal involvement (p <0.001). No mutations were detected in the NEU1 gene in all HSV kidney-affected patients and the control group. 

Conclusions:

Neu1 gene mutation was not detected in Henoch-Schönlein vasculitis patients with renal involvement. In this study, there was no link between HSV kidney involvement and the NEU1 gene, which is a lysosomal sialidase and involved in the sialization of IgA.