Neonatal Urinary Tract Infection and Renal Nodular Lesion: A Rare Case of Xanthogranulomatous Pyelonephritis.

Xanthogranulomatous pyelonephritis (XPN) is an uncommon variant of chronic pyelonephritis with a poorly understood pathogenesis and a challenging diagnosis. It is rare in pediatric patients, particularly in the neonatal period. We report the case of an 18-day-old female neonate admitted to the emergency room due to macroscopic hematuria and poor feeding. Urinalysis revealed leukocyturia and she was initially admitted under the clinical suspicion of acute pyelonephritis. Renal ultrasound and magnetic resonance imaging (MRI) revealed a progressive nodular lesion in the middle third of the left kidney. Given the suspicion of renal abscess or neoplasm, the patient was transferred to our tertiary hospital. Urinary catecholamines and tumor markers had normal values. Percutaneous kidney biopsy confirmed XPN. Posterior computed tomography scan excluded extension to neighboring structures. A conservative management with systemic antibiotic therapy was decided. She completed 7 weeks of systemic antibiotic therapy (ampicillin and cefotaxime) with progressive reduction of lesion size and posterior calcification. Follow-up at 3 years was uneventful. The lipid profile and study of neutrophil function were normal. Voiding cystourethrography excluded vesicoureteral reflux. The authors intend to highlight the importance of a high index of suspicion of XPN to allow preoperative diagnosis. Histopathological assessment is mandatory to confirm XPN and exclude other entities mimicked by focal and unilateral progressive disease. There are only a few published cases of optimal clinical evolution solely with broad-spectrum antibiotics; however, this may allow a beneficial nephron-sparing approach in selected patients.

Determinants of bedwetting trajectories between 4 and 7 years - A birth cohort analysis.

INTRODUCTION: Enuresis is frequent in school-aged children and results from a complex interaction between genetics, biological and psychosocial factors. This study aims to analyze bedwetting trajectories between 4 and 7 years of age and to evaluate the impact of biological and developmental characteristics of the child and sociodemographic factors in those bedwetting trajectories. METHODS: Data from 5433 children from the Generation XXI population-based birth cohort was analyzed. Four bedwetting trajectories were defined: normative (acquired nighttime bladder control at 4 years and no enuresis at 7 years); delayed (no nighttime bladder control at 4 years and no enuresis at 7 years); enuresis (no nighttime bladder control at 4 years and enuresis at 7 years); and secondary enuresis (acquired nighttime bladder control at 4 years and enuresis at 7 years). Multinomial logistic regression models were fitted to test the association between biological and developmental characteristics of the child and sociodemographic factors with bedwetting trajectories. RESULTS: At the age of 4 years, 36.5% of children had bedwetting (8.1% infrequently and 28.4% frequently) and at the age of 7 years, 11.0% had enuresis (5.8% infrequently and 5.2% frequently). Of the 4-year-old children who were infrequent bedwetters, 14.0% had enuresis at 7 years, while among frequent bedwetters, 30.2% had enuresis at 7 years. Regarding bedwetting trajectories, 26.8% of children were classified in the delayed trajectory, 9.7% in the enuresis trajectory and 1.3% were in the secondary enuresis trajectory. Children with developmental disorders presented an increased risk of being in enuresis trajectory (OR = 1.47, 95% CI 1.15-1.88) than children without developmental disorders. Living in overcrowded houses (OR = 1.60, 95% CI 1.12-2.30), growing up in families with low household income (OR = 1.27, 95% CI 1.03-1.57) and an orphan of one parent (OR = 3.19, 95% CI 1.18-8.64) presented higher odds of being in the enuresis trajectory than in the normative trajectory. Having a sibling both before the age of 4 years and between the ages of 4 and 7 years was associated with delayed trajectory (OR = 1.55, 95% CI 1.16-2.07) and with enuresis (OR = 1.53, 95% CI 1.01-2.33), when compared with children without siblings born at that time. CONCLUSION: Both developmental disorders and sociodemographic factors seem to be important determinants of bedwetting trajectories. Further studies are needed to better characterize the impact of biological and environmental determinants, on the nighttime bladder control acquisition, to enable timely medical interventions that improve the quality of life of enuretic children.

Neonatal Atypical Hemolytic Uremic Syndrome in the Eculizumab Era.

The atypical hemolytic uremic syndrome (aHUS) in the newborn is a rare disease, with high morbidity. Eculizumab, considered a first-line drug in older children, is not approved in neonates and in children weighing less than 5 kg. We present a 5-day-old female newborn, born at 36 weeks' twin gestation, by emergency cesarean section due to cord prolapse, with birth weight of 2,035 g and Apgar score of 7/7/7, who develops microangiopathic hemolytic anemia, thrombocytopenia, and progressive acute renal failure. In day 5, after diagnosis of aHUS, a daily infusion of fresh frozen plasma begins, with improvement of thrombocytopenia and very slight improvement in renal function. The etiologic study (congenital infection, Shiga toxin, ADAMTS13 activity, directed metabolic study) was normal. C3c was slightly decreased. On day 16 for maintenance of anemia and severe renal failure, she started 300 mg/dose eculizumab. Anemia resolves in 10 weeks and creatinine has normal values after 13 weeks of treatment. The genetic study was normal. In this case, eculizumab is effective in controlling microangiopathy and in the recovery of renal function. Diagnosis of neonatal aHUS can be challenging because of phenotypic heterogeneity and potential overlap with other manifestations that may confound it, such as perinatal asphyxia or sepsis/disseminated intravascular coagulation.

Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review.

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease resulting from loss-of-function pathogenic variants in ADA2 gene, which might resemble polyarteritis nodosa (PAN). The authors present two pediatric cases of ADA2 deficiency with phenotypic manifestations of PAN, including an unusual presentation with spinal cord ischemia. Also described is an assessment of ADA2 activity and gene expression profiling with description of a previously unreported homozygous variant, c.1226C > A (p.(Pro409His)), detected in a patient with consanguineous parents, confirmed by near-absent ADA2 plasma enzymatic activity. The authors suggest to first obtain enzymatic activity, whenever DADA2 is suspected, before proceeding to genetic testing, due to its excellent cost-effective results. Moreover, physicians must be aware of this monogenic disorder, especially in the case of early-onset PAN-like manifestations, having a family member with similar manifestations or having consanguineous parents suggesting an autosomal recessive inheritance pattern. Given the multi-organ involvement, recognizing the diverse manifestations is a crucial step towards timely diagnosis and management of this potentially fatal but often treatable syndrome.

Understanding of endocarditis risk improves compliance with prophylaxis.

BACKGROUND: Congenital heart disease (CHD) is the most common predisposing cause for childhood infective endocarditis (IE), accounting for 80% of cases. Knowledge about the disease and its complications is a key factor in promoting adherence to prophylaxis recommendations. OBJECTIVE: To assess the level of understanding among caregivers of children with CHD of their disease, risks of IE and attitudes concerning oral health and antibiotic prophylaxis of IE. PATIENTS AND METHODS: Caregivers' knowledge was assessed during outpatient visits using a 15-item questionnaire developed for this study. Answers were related to patients' age, cardiac condition and risk of IE and respondents' age and education level. RESULTS: Of the 97 questionnaires completed, 83 were considered valid. The mean age of patients was 7.7 +/- 5.9 years (range 1 to 24 years). Eleven (13%) patients were at high risk for IE and 30 (36%) at moderate risk. Most respondents (80%) alleged that they knew the patient's cardiac condition but only 37% described it correctly. Twenty-nine respondents (35%) were aware of the risk of IE, while only 13 related that risk to dental procedures. Knowledge of IE risk was associated with respondents' education level (p = 0.03) but not with respondents' age or patients' actual risk of IE. Most respondents (76%) recalled having been advised on oral hygiene measures and declared that their child brushed their teeth at least once a day (92%). Forty-three children (52%) had already been to the dentist and 27 had done so in the previous six-month period. Almost all (42 out of 43) informed the dentist about the child's CHD, but only 20 (48%) reported having received antibiotics before dental procedures. Antibiotic prophylaxis was associated with patients' age (p = 0.04) but not with respondents' education level or actual risk of IE. Being aware of IE risk was significantly associated with better oral hygiene (p = 0.001) and more frequent dental appointments (p = 0.03), independently of education level. CONCLUSIONS: The results of this survey support the need to reinforce information about risks of IE and prophylaxis recommendations among caregivers of children with CHD.