Within the 17 pedigrees, we have identified a total of 20 different SLC5A2 mutations. Fifteen have not been previously reported. In all glucosuric individuals tested, at least one SLC5A2 mutation could be identified. Heterozygous individuals were found to have only mild glucose excretion whereas homozygous or compound heterozygous patients had severe glucosuria, ranging from 10 to 86.5 g/1.73 m(2)/24 h. In two patients of the latter group, basal plasma renin activity and serum aldosterone concentration were determined and found to be raised to an average of 4.6-fold and 3.1-fold of the upper limit of the normal range, respectively. Discussion. The identification of at least one mutated allele in every affected individual in this cohort of 17 consecutively investigated families strongly suggests that genetic heterogeneity is not prevalent in FRG. Although 5 of the detected alleles have been described previously, 15 are novel, confirming that most mutations in FRG are private. Our finding of an activation of compensatory mechanisms for salt loss may warrant more detailed studies of long-term hormonal and metabolic imbalances in patients with FRG.

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The occurrence of nephrotic syndrome after an insect sting is rarely reported in the literature. A 2-year-old boy developed generalized edema 5 days after a bee sting. The laboratory investigations revealed nephrotic range proteinuria, hypoproteinemia, hypoalbuminemia and hyperlipidemia. The corticosteroid treatment induced prompt remission with resolution of edema and normalization of the laboratory findings. There was no relapse of the disease during the 13-year follow-up. Although spontaneous remission might occur, corticosteroid treatment induced prompt remission and shortened the hospital stay.

BACKGROUND:Neonatal renal vein thrombosis is the most common vascular condition in the newborn kidney, which could lead to serious complication in infants.CASE REPORT:We report a case of the unilateral renal vein and inferior vena cava thrombosis, presented with gross hematuria and thrombocytopenia in a neonate. The neonate was a macrosomic male born to a mother with hyperglycemia in pregnancy. The baby was born with perinatal asphyxia and early neonatal infection and massive hematuria. Clinical and laboratory examination showed enlarged kidney having corticomedullary differentiation diminished and azotemia. Diagnosis of renal vein thrombosis was suspected by renal ultrasound and confirmed by magnetic urography. Prothrombotic risk factors were evaluated. The child is being managed conservatively. Measures aimed at the prevention of end-stage renal disease because of its poor outcome were highlighted. Despite anticoagulant therapy, the right kidney developed areas of scarring and then atrophy.CONCLUSION:In this work, we present a patient with multiple entities in the aetiology of non-catheter induced renal and vena cava thrombosis in a neonate. Clinicians should suspect renal vein thrombosis in neonates when presented with early postnatal gross hematuria, palpable abdominal mass and thrombopenia.

BackgroundAtypical hemolytic uremic syndrome (aHUS) is a rare and heterogeneous disorder. The first line treatment of aHUS is plasma therapy, but in the past few years, the recommendations have changed greatly with the advent of eculizumab, a humanized monoclonal anti C5-antibody. Although recent recommendations suggest using it as a primary treatment for aHUS, important questions have arisen about the necessity of immediate use of eculizumab in all cases. We aimed to draw attention to a specific subgroup of aHUS patients with rapid disease progression and high mortality, in whom plasma therapy may not be feasible.MethodsWe present three pediatric patients of acute complement-mediated HUS with a fatal outcome. Classical and alternative complement pathway activity, levels of complement factors C3, C4, H, B and I, as well as of anti-factor H autoantibody and of ADAMTS13 activity were determined. The coding regions of CFH, CFI, CD46, THBD, CFB and C3 genes were sequenced and the copy number of CFI, CD46, CFH and related genes were analyzed.ResultsWe found severe activation and consumption of complement components in these patients, furthermore, in one patient we identified a previously not reported mutation in CFH (Ser722Stop), supporting the diagnosis of complement-mediated HUS. These patients were not responsive to the FFP therapy, and all cases had fatal outcome.ConclusionTaking the heterogeneity and the variable prognosis of atypical HUS into account, we suggest that the immediate use of eculizumab should be considered as first-line therapy in certain small children with complement dysregulation.