ESPN 54th Annual Meeting

ESPN 2022


 
Mannose-binding lectin polymorphisms in children with typical hemolytic uremic syndrome: a coincidence or not?
VASILIKI KARAVA 1 ANTONIA KONDOU 1 JOHN DOTIS 1 ELENI GAVRIILAKI 2 NIKOLETA PRINTZA 1

1- PEDIATRIC NEPHROLOGY UNIT, 1ST DEPARTMENT OF PEDIATRICS, HIPPOKRATIO GENERAL HOSPITAL, ARISTOTLE UNIVERSITY OF THESSALONIKI, GREECE
2- BONE MARROW TRANSPLANTATION UNIT, HEMATOLOGY DEPARTMENT, G. PAPANICOLAOU HOSPITAL, THESSALONIKI, GREECE
 
Introduction:

The genetic predisposition for typical hemolytic uremic syndrome (HUS) is largely unknown. Mannose-binding lectin (MBL2) is associated with endothelial dysfunction and its inhibition protects against complement activation and renal injury induced by Stx-2 in mice models. We report 3 cases of typical HUS with presence of MBL2 gene polymorphisms.

Material and methods:

 DNA next generation sequencing (NGS) analysis was performed on peripheral blood samples from 3 patients with typical HUS secondary to shiga-toxin producing E.Coli (STEC) infection. Amplicons covered exonic regions of TMA- associated genes (CFH, CFI, CFB, CFD, C3, CD55, MCP, thrombomodulin, ADAMTS13, MASP, MBL and FCN).

Results:

 Two male patients of 8 and 9 months old and one female patient of 5.5 years old presented typical HUS with positive detection of stx by PCR in fecal specimen. Initial soluble C5b-9 levels were increased only in the female patient (920 ng/ml, normal range <245 ng/ml). All three patients required peritoneal dialysis for 14, 15 and 37 days respectively and remained oligo-anuric for 2, 4 and 16 days respectively. The first male patient presented an episode of tonico-clonic seizure at admission, with favorable clinical outcome and normal MRI findings. The female patient presented a severe hemorrhagic colitis, which was gradually resolved. The DNA NGS analysis revealed MBL-2 polymorphisms in the three patients: rs5030737, rs1800450 and rs5030737 respectively. 

Conclusions:

 Three patients with typical HUS presented MBL-2 gene polymorphisms in DNA NGS analysis. The possible causative or triggering role of MBL2 gene polymorphisms on the occurrence of typical HUS needs further evaluation.