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Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate, ultimately responsible for kidney stones, kidney failure and systemic oxalosis. Lumasiran, is a liver-directed RNA interference therapeutic agent. It has been shown to reduce hepatic oxalate production by targeting glycolate oxidase, and to dramatically reduce oxalate excretion.Care Report: We present the case of a teenager patient affected by PH1, who entered in the lumasiran compassionate use program. The patient had a rapid and sustained decrease in urinary oxalate/creatinine ratio, with a mean reduction after lumasiran administration of about 70%. During the 18 months long follow-up, urinary oxalate remained low, reaching nearly normal values. Plasma oxalate also decreased dramatically. Normal levels were reached immediately after the first dose and remained consistently low thereafter. During the same follow-up period, eGFR remained stable at about 60 ml/min/1.73 m2, but no new kidney stones were observed. Existing kidney stones did not increase in size. The patient did not suffer renal colic events and did not require further urological interventions.Conclusion: In our severely affected PH1 patient, lumasiran proved to be very effective in rapidly and consistently reducing plasma oxalate and urinary excretion to normal and near-normal levels, respectively. In the 18 months long follow-up post-lumasiran, the eGFR remained stable and the patient showed clinical improvements. As far as we know, this report covers the longest observation period after initiation of this novel RNAi therapy.

Introduction: Oxalate overproduction in Primary Hyperoxaluria type I (PH1) leads to progressive renal failure and systemic oxalate deposition. In severe infantile forms of PH1 (IPH1), end-stage renal disease (ESRD) occurs in the first years of life. Usually, the management of these infantile forms is challenging and consists in an intensive dialysis regimen followed by a liver-kidney transplantation (combined or sequential).Methods: Medical records of all infants with IPH1 reaching ESRD within the first year of life, diagnosed and followed between 2005 and 2018 in two pediatric nephrology departments in Brussels and Paris, have been reviewed.Results: Seven patients were included. They reached ESRD at a median age of 3.5 (2–7) months. Dialysis was started at a median age of 4 (2–10 months). Peritoneal dialysis (PD) was the initial treatment for 6 patients and hemodialysis (HD) for one patient. Liver transplantation (LT) was performed in all patients and kidney transplantation (KT) in six of them. A sequential strategy has been chosen in 5 patients, a combined in one. The kidney transplanted as part of the combined strategy was lost. Median age at LT and KT was 25 (10–41) months and 32.5 (26–75) months, respectively. No death occurred in the series. At the end of a median follow-up of 3 years, mean eGFR was 64 ± 29 ml/min/1.73 m2. All patients presented retinal and bone lesions and five patients presented bones fractures.Conclusion: Despite encouraging survival figures, the morbidity in IPH1 patients remains extremely heavy and its management presents a huge challenge. Thanks to the newly developed RNA-interference drug, the future holds brighter prospects.

Background: Hemolytic uremic syndrome (HUS) is rare in neonates. It is probably an under-recognized condition in the early postnatal period as it presents similarly to the most common perinatal asphyxia and to differentiate the two conditions is challenging. We describe the clinical presentation of a potential new subtype of neonatal HUS triggered by hypoxic-ischemic event. Our patient was successfully treated by a single dose of Eculizumab as early as at 9 days of life.Case Report: A 35-weeks infant was born with low hemoglobin and subsequently developed respiratory distress, hypotension, and acidosis. Blood transfusion was administered, acidosis corrected, neurological examination remained reassuring. Few hours later he developed renal failure, macroscopic hematuria, hemobilia, thrombocytopenia and coagulopathy refractory to platelet and fresh frozen plasma transfusions. No infection was found. Haptoglobin was non-measurable, and schistocytes present, complement factors C3, C4 and B were low, FBb increased. HUS was suspected. A single dose of Eculizumab™ was administered on day 9 of life. No genetic mutation of atypical HUS was found. He was discharged with improving renal function and developing cholestasis.Conclusion: In neonates with hemolytic anemia, thrombocytopenia, hematuria and renal failure, HUS should be suspected. In neonatal HUS Eculizumab should be considered as first-line therapy and discontinuation can be considered if no genetic mutation is found and clinical condition improves. In very young patients, cholestasis could appear as potential side effect of Eculizumab™.

Fetal renal pelvis dilation is a common condition, which is observed in 1–4. 5% of pregnancies. In many cases, this finding resolves spontaneously. However, sometimes it may be a signal of significant urinary tract pathologies. The main abnormalities found after birth are uretero-pelvic junction stenosis, primary vesicoureteral reflux, megaureter, duplex kidneys, and posterior urethral valves, with uretero-pelvic junction stenosis and primary vesicoureteral reflux accounting for most of the cases. Diagnosis, management, and prognosis at short and longer term of these conditions will be reviewed in this article.

Aims: To assess the safety and efficacy of ambulatory oral cefuroxime-axetil treatment in children presenting with first febrile urinary tract infection (UTI) in terms of resolution of fever, antibiotics tolerance, bacterial resistance, and loss to ambulatory follow-up.Methods: Two-year prospective single-center evaluation of the local protocol of oral ambulatory treatment of children presenting first febrile urinary tract infection (UTI).Results: From October 2013 to October 2015, 82 children were treated ambulatory with oral cefuroxime-axetil. The median age was 8 months. When analyzing those 82 children treated orally, 51 (62%) completed oral treatment, 14 (17%) missed their scheduled follow-up visits (3 patients at day 2 and 11 patients at week 2), and 17 (21%) were switched to IV therapy for the following reasons: vomiting in 9, persistent fever in 5, antibiotic resistance in 2 and bacteremia in 1. Six children (8%) presented recurrent UTI after a median of 5 months of follow-up.Conclusions: This 2-year evaluation suggests that oral treatment with cefuroxime-axetil in febrile UTI is feasible but should be implemented with caution. Home-treated children require reevaluation during treatment since 21% of our cohort had to be temporarily switched to parenteral therapy and 17% did not attend scheduled follow-up visits during oral treatment.