Table 5.

Clinical characteristics, in hospital course, and outcome of the six patients with postdiarrheal HUS, who carried complement pathogenic rare variants

In-Hospital CourseOutcome
Patient No. Sex, Age, yrGenetic Complement AbnormalitiesaC3b,c, mg/LsC5b-9b,c, ng/mlStool Stx PCR (STEC Serogroup)Hbc, g/dlPltc, /mm3WBCc, /mm3Screatc, mg/dlDialysis Duration, dSystemic ManifestationsPI/PE and/or EculizumabFollow-up, yrSequelsdRelapse
Stx-positive patients with HUS
 1. F, 2.6CFH, p.Gln950His975479Stx2 positive (O157 in stool)9.881,00025,6006.125CNSNo5.8CKD stage 5 (ESKD) at 3 yr follow-up Kidney graft at 4 yr follow-upNo
 2. M, 2.0THBD, p.Pro495Ser1240519Stx2 positive (O80 in stool)5.841,00013,0703.90NoneNo4.2No CKDNo
 3. F, 2.4CFH, p.Ala382Glu914433Stx2 positive (O157 in stool)6.934,00017,4000.60NoneNo3No CKDNo
 4. M, 3.5MCP, p.Asn170LysfsTer71090182Stx2 positive (ND)7.2400,00072000.90NoneNo4.8CKD stage 1 Proteinuria; eGFR 108 ml/min per 1.73 m2No
Stx-negative patients with HUS
 5. M, 13.5THBD, p.Ala43Thr1180231Stx negative (stool culture and serology negative)5.059,00079001633NoneNo4.4No CKDNo
 6. M, 4.4eCFH, p.Arg1210Cys+C3 p.Asp1440Ala VUS1210557Stx negative (only O157 serology positive)5.830,000900047PancreatitisNo4.5No CKDNo
  • HUS, hemolytic uremic syndrome; Stx, Shiga toxin; STEC, Shiga toxin–producing E. coli; Hb, hemoglobin; Plt, platelet count; WBC, white blood cell; Screat, serum creatinine; PI, plasma infusion; PE, plasma exchange; F, female; CFH, complement factor H; M, male; CNS, central nervous system; THBD, thrombomodulin; MCP, membrane cofactor protein; VUS, variant of uncertain significance.

  • a See Table 3.

  • b Normal range: C3: 615–1250 mg/L; sC5b-9: <420 ng/ml; Conversion factor for serum creatinine from mg/dl to µmol/L: ×88.4.

  • c At admission.

  • d CKD stages according to Kidney Disease Improving Global Outcomes Guidelines 2012 (http://www.kdigo.org/clinical_practice_guidelines/pdf/CKD/KDIGO_2012_CKD_GL.pdf). See Supplemental Material for definition of CKD stages.

  • e Patient 6’s first cousin had HUS 4 years after patient 6.