Table 2.

Clinical characteristics of the patients with atypical hemolytic uremic syndrome carrying diacylglycerol kinase-ε mutations

PatientSexAge (yr)Age at Onset (mo)Proteinuria Onset Alb (g)/Cr (g)Thrombocytopenia OnsetLDH (units/L)/SchistosCr onset (mg/dl)Dialysis OnsetHistologyaHUS RecurrencesPlasma InfusionsEcu TherapyLast sCr (mg/dl)Last HematuriaLast Proteinuria Alb (g)/Cr (g)
HUS299M4138Yes2138/yes7.7YesNDNoNoNo0.4None0.05
HUS39M113>3Yes2727/yes2.8YesNDYes (1)YesNo0.8NoneNone
HUS40W177>3Yes4560/yes4YesTMAYes (3)YesNo1.5None0.3
HUS272W4812Yes1032/yes0.4NoTMAYes (>3)YesYes0.3+++4.4
  • Alb, albumin; Cr, creatinine; LDH, lactate dehydrogenase; Schisto, schistocytes; sCr, serum creatinine; aHUS, atypical hemolytic uremic syndrome; Ecu, Eculizumab; M, man; ND, not done; W, woman; TMA, thrombotic microangiopathy.