We report the case of an 8-year-old girl diagnosed with atypical hemolytic uremic syndrome (aHUS) with a complement factor B (CFB) gene mutation. aHUS is a disease of complement dysregulation. In approximately 50% of patients, mutations are identified in genes encoding regulators of complement-complement factor H (CFH), membrane cofactor protein or complement factor I (CFI)-or activators of complement-complement factor B (CFB) or C3. The mutation in this patient was identified in exon 12 of CFB and changes a lysine at amino acid position 533 to an arginine (c.1598A>G p.Lys533Arg). The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7.

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We have elucidated a functional deficiency of 11β-hydroxysteroid dehydrogenase type 2 in children with CKD and a subset of essential hypertension. Urinary 5α-THF, 5β-THF, and THE analysis by gas chromatography/mass spectrometry should be a part of routine work-up of CKD and hypertensive patients.

CVD is a major cause of morbidity and mortality in pediatric patients with CKD. It is unclear whether vascular abnormalities in these patients are reversible, and if transplantation portends salutary effects on arterial function. We compared FMD, PWV, AI75, and CIMT in 15 dialysis (D), 14 transplant patients (T), and 15 controls (C), and their associations with cardiovascular risk factors. There was stepwise lower FMD (p < 0.001), higher AI75 (p < 0.001), higher PWV (p = 0.01), and higher CIMT SDS for age (p = 0.03) and height (p = 0.006) in the D group than T and C groups. FMD, PWV, and CIMT were unrelated to dialysis duration or time from transplantation. On multivariate analysis, group status was independently associated with FMD (β = 3.15, p = 0.002), AI75 (β = -5.95, p = 0.01), PWV (β = -0.57, p = 0.07) and CIMT (β = -0.02, p = 0.04) and CIMT SDS for height (β = -0.541, p = 0.009). FMD is lower and AI75, PWV and CIMT are higher in pediatric patients maintained on D than T/C. T patients have similar AI75, PWV and CIMT to C although FMD remains reduced. These findings suggest that transplantation stabilizes or improves CKD associated arteriopathy.