Introduction. The usual definition of Shiga toxin-producing Escherichia coli hemolytic uremic syndrome (STEC-HUS) is based on the presence of anemia, thrombocytopenia, and elevated serum creatinine levels, with or without proteinuria and/or hematuria. The strict definition only considers elevated serum creatinine levels as a renal criterion. The extended definition maintains flexible renal criteria, although it replaces anemia with hemolysis and considers a sharp drop in platelet count as an indicator of platelet consumption. The objective of this study was to estimate and compare the diagnostic sensitivity of these definitions in patients with STEC-HUS as hospital discharge diagnosis. Population and methods. Retrospective review of medical records of HUS patients. Sensitivity and positive predictive value, with their corresponding 95 % confidence intervals (CIs), were estimated for the 3 definitions based on a discharge diagnosis of STEC-HUS (reference diagnosis). The McNemar test was used. Results. Out of 208 patients, 107 (51.4 %), 133 (63.9 %), and 199 (95.6 %) were identified with the strict, usual, and extended definition, respectively. Sensitivity was lower for the strict definition (51.4 %; 95 % CI: 44.8-58.3), intermediate for the usual definition (63.9 %; 95 % CI: 56.9-70.4), and higher for the extended one (95.6 %; 95 % CI: 91.6-97.8); (p < 0.001).
Conclusion.The different STEC-HUS definitions showed significant differences in diagnostic sensitivity. The extended definition reached a sensitivity above 95 %, so its generalized use may help to reduce diagnostic delays.
Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia and renal damage. Its presentation as nephrotic syndrome (NS) during first year of life is uncommon; we describe a child with clinical and laboratory findings of NS whose renal biopsy revealed thrombotic microangiopathy (TMA). A previously healthy 4-month-old male was admitted with severe dehydration, diarrhea and anuria. Laboratory results showed electrolyte disturbances, increased serum creatinine, anemia without schistocytes, thrombocytosis, normal lactic dehydrogenase (LDH) levels, hypoalbuminemia hypercholesterolemia and decreased C3 levels. After rehydration hematuria and massive proteinuria were also documented and an initial diagnosis of NS of the first year was established. Studies seeking for infectious agents were negative. During hospitalization he continued to be oligo-anuric needing dialysis and a renal biopsy was performed, which showed TMA findings. We here considered the diagnosis of aHUS and started plasma infusions as a bridge until starting eculizumab. After two infusions urine output improved leading to discontinuation dialysis. The diagnoses of STEC infection and thrombocytopenic thrombotic purpura were ruled out. Factor B, H, I and properdin levels were normal. Antibodies against CFH negative were negative. Screening for genes causative of aHUS detected a heterozygous variant in CFHR3 of uncertain significance. On day 20, treatment was switched to eculizumab, which induced a progressive remission of the NS. This case outlines the need for a heightened diagnosis suspicion of this already rare disease since early initiation of eculizumab therapy improves its prognosis.
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