Abstract
Introduction:Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. This study’s aim was to describe the clinical profile, management, and long-term outcome of the genetic aHUS patients admitted to a tertiary care pediatric nephrology center during 20 years.Methods:We performed a retrospective analysis of the clinical records of all aHUS patients younger than 18 years with identified genetic mutations. Data on clinical features, genetic study, therapeutic interventions, and long-term outcomes were reviewed.Results:Five cases of aHUS with an identified genetic mutation were included; all were inaugural cases with the youngest being 4 months old. Complement factor H gene mutation was identified in four patients. Therapeutic plasma exchange was performed for acute management in 4 patients, one of whom also needed acute renal replacement therapy (peritoneal dialysis). All patients went on complete remission, 2 had more than one relapse but only 1 of these progressed to chronic kidney disease during the follow-up period (median (25th-75th percentile), 136 (43.5-200.5) months).Conclusion:In children, the prognosis of renal function seems to be strongly dependent on the genetic background, thus being crucial to perform genetic study in all aHUS cases. In our cohort, 2 patients presented genetic mutations not previously described. Recent innovations on the genetic field leading to the identification of new mutations has lead to a better understanding of aHUS pathogenesis, but further studies, focusing on the genotype-phenotype correlation, with longer follow-up periods, are needed.
Highlights
Atypical hemolytic uremic syndrome is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children
Hemolytic uremic syndrome (HUS) is a rare disorder characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI) secondary to thrombotic microangiopathy
We aimed to review all pediatric cases of Atypical hemolytic uremic syndrome (aHUS) admitted in our tertiary care pediatric nephrology center with causative genetic mutation identification, over the last 20 years, in order to characterize their clinical profile, management, long-term outcome, with particular focus on the relapse episodes and progression to chronic kidney disease (CKD)
Summary
Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. Methods: We performed a retrospective analysis of the clinical records of all aHUS patients younger than 18 years with identified genetic mutations. Extra-renal manifestations are reported to occur in around 20% of the cases, most commonly involving the central nervous system and presenting as altered state of consciousness, seizures or focal neurologic deficits, and the gastrointestinal tract, especially presenting with prodromic diarrhea (in around 30% of the patients). Nonspecific findings, such as hypertension and malaise, can occur but are often related to the underlying renal involvement. According to 2015 international consensus approach, genetic screening should be performed in all cases of aHUS (first episode or relapse), in case of familial history of non synchronous aHUS, pregnancy/post-partum aHUS, or in case of de novo post-transplant aHUS7
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