Evgenia Gurevich

Aims: To investigate the association between serum ALP levels and the development of AKI in paediatric patients with sepsis. Methods: Retrospective screening of a computerized database of 4 Israeli regional hospitals for children (0–18 years) hospitalized between 1.01.2000–1.06.2024 with ICD‐9 sepsis‐related diagnoses (study group) and age‐ and sex‐matched non‐septic febrile patients (controls). Serum ALP levels were sex‐ and age‐adjusted and described as standard deviation scores (SDS). Results: Of 809 952 screened hospitalizations, 701 records comprised the study group. Their median (IQR) age was 17 (10–38) months, 53% were males. Nadir ALP‐SDS was lower in the sepsis group compared to controls (−1.65 ± 1.11 vs. −0.97 ± 1.36, p < 0.001) and further lower in those with AKI, which occurred in 23% of the sepsis cohort (−1.95 ± 1.16 vs. −1.56 ± 1.09, p < 0.001). Hospital stay was longer in the AKI compared to non‐AKI group [median (IQR): 7 (4, 12) vs. 4 (3, 5) days, p < 0.001]. Lower ALP‐SDS was independently associated with AKI [OR (95% CI): 0.7 (0.6–0.8), p < 0.001], after controlling for CRP and leucocyte count. Conclusions: ALP was lower in sepsis patients compared to controls, and significantly lower in AKI vs. non‐AKI group, suggesting it as an additional marker of infection severity.

Childhood idiopathic nephrotic syndrome (INS) responds to corticosteroids (CS), but tends to relapse, often requiring steroid sparing agents (SSA). Long standing treatment free remission (LTFR) evolves in most cases, but whether this is related to puberty or disease length is unknown. We retrospectively analyzed the computerized database of Israel's largest health maintenance organization. Children with a new INS diagnosis between 2000-2010 were divided into 2 groups according to INS presentation age. Disease length was determined based on CS or SSA use. Children with disease shorter than 1 year or those not reaching LTFR, defined as more than 3 years from last purchase, were excluded. Out of 1,669,977 eligible children, 608 were diagnosed with INS, 524 relapsed, 174 were excluded, leaving 350 for analysis: 272 (77.7%) and 78 (22.2%) presented between 2-6.9 and 7-9.9 years, respectively. There was no difference in the need for SSA, time to SSA initiation and drug purchase count between the groups. After 15.5 ± 5.1 years of follow up, time until LTFR was longer in the older group (5.4 ± 4 vs. 7.1 ± 5.1 years, p = 0.002), without correlation between INS onset age and disease length. Many patients, especially in the older group, still relapsed beyond Tanner stage 3's 97th percentile age (age 14 years) (14.7% vs. 51.3%, p < 0.001), irrelevant of sex. In this population-based study LTFR occurred in many cases well beyond puberty, in both groups, favoring the role for disease length on LTFR, probably due to maturational immune system changes.

Background Childhood idiopathic nephrotic syndrome (INS) responds to corticosteroids (CS), but tends to relapse, often requiring steroid sparing agents (SSA). Long standing treatment free remission (LTFR) evolves in most cases, but whether this is related to puberty or disease length is unknown. Methods We retrospectively analyzed the computerized database of Israel’s largest health maintenance organization. Children with a new INS diagnosis between 2000–2010 were divided into 2 groups according to INS presentation age. Disease length was determined based on CS or SSA use. Children with disease shorter than 1 year or those not reaching LTFR, defined as more than 3 years from last purchase, were excluded. Results Out of 1,669,977 eligible children, 608 were diagnosed with INS, 524 relapsed, 174 were excluded, leaving 350 for analysis: 272 (77.7%) and 78 (22.2%) presented between 2-6.9 and 7-9.9 years, respectively. There was no difference in the need for SSA, time to SSA initiation and drug purchase count between the groups. After 15.5 ± 5.1 years of follow up, time until LTFR was longer in the older group (5.4 ± 4 vs 7.1 ± 5.1 years, p = 0.002), without correlation between INS onset age and disease length. Many patients, especially in the older group, still relapsed beyond Tanner stage 3’s 97th percentile age (age 14 years) (14.7% vs 51.3%, p < 0.001), irrelevant of sex. Conclusion In this population-based study LTFR occurred in many cases well beyond puberty, in both groups, favoring the role for disease length on LTFR, probably due to maturational immune system changes.

Background/Objectives: Preterms often experience unnecessary delays in discharge. This quality improvement (QI) project aimed to reduce length of stay (LOS) in the neonatal intensive care unit (NICU). Methods: In this before-and-after intervention study on preterms (28 + 0–33 + 6 weeks gestation), we compared NICU outcomes (LOS, postmenstrual age (PMA) and weight at discharge, and readmission within 7 days) from pre-intervention (2013–2015) and post-intervention (2016–2017) periods. The intervention included discharge planning, standardized checklists, parental education, and team-based coordination. Results: We analyzed 377 infants. In post-interventional group, there was a reduction in LOS and PMA at discharge (31.45 ± 19.05 vs. 26.8 ± 15.8 days, p = 0.01 and 35.93 ± 1.84 vs. 35.43 ± 1.27 weeks, p < 0.01, respectively) without significant differences in discharge weight and readmission rates. Conclusions: QI interventions were significantly associated with shorter LOS for preterms. Standardized discharge procedures may improve outcomes and resource utilization in NICUs.

Aim: To determine the duration of relapsing childhood idiopathic nephrotic syndrome (INS).Methods: In this population‐based study, we retrospectively analysed the computerised database of Israel's largest health maintenance organisation. Children (age 2–10 years) with a new INS diagnosis and a corticosteroid (CS) prescription between 2000 and 2010 were included. NS category was determined, according to CS and/or steroid‐sparing agents (SSA) purchases.Results: Out of 1 669 977 eligible children, 608 fulfilled inclusion criteria. Patients in the fourth quartile of purchases (n = 132) had an older age at last relapse (17.9 ± 6.3 vs. 11.3 ± 5.9 years, p < 0.001) and more SSA use (78.8% vs. 20%, p < 0.001) compared to the remaining three quartiles. A single episode occurred in 84 patients. Of the remaining 524 patients (males 66%, diagnosis age: 4.8 ± 2.2 years, SSA prescribed: 35%) who were followed for 15.5 ± 5.1 years, 113 (21.6%) had a continuing disease at an age of 19.3 ± 6.3 years. The leftover 411 entered long‐lasting treatment‐free remission at age 11.2 ± 5.7 years.Conclusion: In this multicentre study, we identified INS disease course by medication delivery. NS long‐standing remission occurs at age 11.2 ± 5.7 years in most cases. However, the disease continues into adulthood in a fifth of the relapsing patients, implicating the need for proper transition to adult care.

The tubulointerstitial compartment comprises most of the kidney parenchyma. Inflammation in this compartment (tubulointerstitial nephritis—TIN) can b

Autosomal dominant intellectual developmental disorder (ADIDD) is a genetically heterogeneous disease. Genetic variants in erythrocyte membrane protein band 4.1-like 1 ( EPB41L1 ) cause ADIDD type 11, which has not been reported to have a kidney phenotype. We describe a 3.6-year-old boy, born to nonconsanguineous healthy parents, who presented with failure to thrive, microcephaly, and moderate global developmental delay, but normal brain MRI. Bilateral normal-sized hyperechogenic kidneys were found, in association with normal blood pressure, glomerular filtration rate, and urinary concentrating capacity, but mild electrolyte abnormalities (hypocalciuric hypomagnesemia, mild metabolic alkalosis, and nonalbumin proteinuria). Whole-exome trio analysis revealed a de novo heterozygous missense pathogenic variant in a conserved locus of EPB41L1 (c.1857G>C; p.Glu619Asp; NM_012156.2). This is the first description of kidney involvement in a patient with EPB41L1 pathogenic variant. Echogenic kidneys, hypomagnesemia with hypocalciuria, and nonalbumin proteinuria suggest tubulointerstitial involvement. Demonstrating that kidney involvement is secondary to the EPB41L1 variant would broaden the spectrum of cerebrorenal syndromes.

Cystic fibrosis (CF) is a multiorgan disease, caused by autosomal recessive (AR) mutations in the cystic fibrosis transmembrane regulator (CFTR) acting primarily as a chloride channel. CF is most commonly diagnosed in Caucasian populations. Common clinical presentations in pediatric patients include chronic cough, respiratory tract infections such as pneumonia, digestive symptoms, and stunted growth, and malnutrition due to gastrointestinal malabsorption and pancreatic insufficiency. Excessive sweat sodium chloride losses due to dysfunctional sweat glands in CFTR result in volume contraction and secondary hyperaldosteronism leading to renal potassium losses and metabolic alkalosis. Hypokalemic hypochloremic metabolic alkalosis is a known but uncommon presenting sign of the disease, documented as pseudo Bartter syndrome. Common mutations in the CFTR gene are now included in prenatal genetic screening programs. We describe the case of an infant of African descent with normal prenatal screening who presented with severe hypokalemic hypochloremic metabolic alkalosis and was diagnosed with CF with further genetic confirmation of the diagnosis.