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The clinical presentation of atypical hemolytic uremic syndrome (aHUS) can vary from patient to patient. Not all patients show the complete triad of thrombotic microangiopathy (TMA), triggers, complement gene mutations, malignant hypertension (MHT), and extrarenal manifestations. We have differentiated and compared the phenotypes of aHUS patients based on their clinical presentation.
Forty-nine patients with aHUS were included in the study. All patients were diagnosed in adulthood. They were divided into 3 groups according to the phenotype of the disease course. Phenotype 1 (29 patients) represented the classic aHUS, occurring after trigger and manifesting a vivid picture of TMA with acute kidney injury (AKI). Phenotype 2 (13 patients): aHUS was identified in end-stage renal disease (ESRD) or after kidney transplantation; there was no evidence of a triggers in the history, but there was a long-term severe form of arterial hypertension. Phenotype 3 (7 patients) was related to an early childhood episode of AKI with recovery of renal function, slow progression of renal failure, and confirmation of aHUS in adulthood. We evaluated the presence of aHUS-associated gene mutations, the development of the full triad of TMA at disease onset, MHT, and extrarenal manifestations of aHUS.
Most patients with phenotype 2 were male (12 of 13). The age of patients with phenotypes 1 and 2 at the time of diagnosis verification was slightly higher than that of patients with phenotypes 3 and 4 (see Table 1), but these differences did not reach statistical significance (p > 0.05). All p
Patients with the selected phenotypes showed significant differences in the presence of gene mutations, MHT and the complete triad of TMA at disease onset. In addition, a trend toward better renal outcomes with eculizumab treatment was observed in patients with the classic phenotype 1, although this difference did not reach statistical significance. Despite the absence of typical symptoms in some patients, recognizing the differences in the progression of aHUS and certain phenotypic variants allows for early detection of the disease and timely initiation of therapy.