The quality of evidence obtained from non-RCTs is modest. Surgeries for NSUI have relatively high success rates but also high complication rates in this highly heterogeneous population. More studies using modern techniques are required to update our knowledge.

IntroductionUrological anomalies are frequently seen in patients with anorectal malformations (ARM) and can result in upper urinary tract deterioration. Whether the current method of screening is valid, adequate and needed for all patients is not clear. We, therefore, evaluated the urological screening methods in our ARM patients for changes in urological treatment, outcome and follow-up.MethodsThe medical records of 331 children born with an ARM in the period 1983–2003 were retrospectively studied. Documentation of diagnosis, screening method, urological anomalies, treatment, complications, follow-up and outcome were measured.ResultsThe overall incidence of urological anomalies was 52%. The incidence of urological anomalies and urological follow-up time decreased with diminishing complexity of the ARM. Hydronephrosis, vesico-urethral reflux, lower urinary tract dysfunction and urinary incontinence were encountered most. Treatment invasiveness increased with the increase of complexity of an ARM. Lower urinary tract dysfunction needing urological care occurred in 43% in combination with lumbosacral or spinal cord anomalies and in 8% with no abnormalities in the lumbosacral-/spinal region.ConclusionsUrological anomalies in patients with complex ARM are more severe than in patients with less complex ARM. Ultrasonography of the urinary tract should be performed in all patients. Voiding cysto-urethrography can be reserved for patients with dilated upper urinary tracts, urinary tract infections or lumbosacral and spinal abnormalities. All patients with complex ARM need urodynamic investigations. When using these indications, the screening for urological anomalies in ARM patients can be optimized with long-term follow-up in selected patients.

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Atypical hemolytic uremic syndrome (aHUS) is a disorder characterized by thrombocytopenia and microangiopathic hemolytic anemia due to endothelial injury. aHUS is felt to be caused by defective complement regulation due to underlying genetic mutations in complement regulators or activators, most often of the alternative pathway. Mutations causing aHUS can be subdivided into two groups, loss of function mutations (affecting factor H, factor H-related proteins, membrane co-factor protein, and factor I), and gain of function mutations (affecting factor B and C3). As more information becomes available on the relationship between specific mutations and clinical outcome, complete genetic workup of aHUS patients becomes more and more important. In this review, we will discuss the genetic background of aHUS, the role of complement for aHUS pathogenesis, and the different groups of specific mutations known to be involved in the pathogenesis of aHUS.