Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are among the most common congenital malformations and the leading cause of chronic kidney disease in children. They arise when key steps in kidney development are disrupted, including ureteric bud induction, branching morphogenesis and nephron progenitor differentiation. These processes depend on coordinated transcriptional programs, signaling pathways, ciliary function and proper extracellular matrix (ECM) organization. Advances in whole exome and whole genome sequencing, as well as copy number variation analysis, have expanded the spectrum of known monogenic causes. Pathogenic variants have now been identified in major transcriptional regulators and multiple ciliopathy-related genes. Evidence also points to defects in central signaling pathways and changes in ECM composition as contributors to CAKUT pathogenesis. Clinical presentations vary widely, shaped by modifying effects of genetic background, epigenetic regulation and environmental influences such as maternal diabetes and fetal hypoxia. Emerging tools, including human kidney organoids, gene-editing approaches and single-cell or spatial transcriptomics, allow detailed exploration of developmental mechanisms and validation of candidate pathways. Overall, CAKUT reflects a multifactorial condition shaped by interacting genetic, epigenetic and environmental determinants. Integrating genomic data with experimental models is essential for improving diagnosis, deepening biological insight and supporting the development of targeted therapeutic strategies.

Background/Objectives: Preterm birth interrupts nephrogenesis during a critical developmental window, resulting in reduced nephron endowment and lifelong renal vulnerability. Evidence indicates that individuals born preterm are at increased risk for hypertension, albuminuria, and chronic kidney disease (CKD) across the life course. This review synthesizes current evidence linking prematurity with adverse renal outcomes, explores key pathophysiological mechanisms, and discusses emerging biomarkers together with therapeutic strategies. Methods: This comprehensive review integrates evidence from clinical cohort studies, population-based registries, meta-analyses and experimental models. Factors such as neonatal acute kidney injury (AKI), nephrotoxic exposures and cardiometabolic interactions were integrated to provide a life-course perspective. Results: Preterm birth leads to reduced nephron endowment, compensatory glomerular hypertrophy, and hyperfiltration, which predispose to progressive nephron loss. Postnatal factors, including neonatal AKI, inflammation, nephrotoxic medications, and later cardiometabolic stress, act as cumulative “hits”, accelerating renal injury trajectories. Clinical studies demonstrate a higher prevalence of reduced estimated glomerular filtration rate, albuminuria, elevated blood pressure, and smaller kidney volumes from childhood into adulthood. Emerging biomarkers such as cystatin C, alongside imaging-based estimates of nephron endowment, may enhance early risk stratification. Conclusions: Preterm birth represents an independent, lifelong risk factor for CKD through combined developmental and postnatal mechanisms. Structured long-term surveillance and early preventive strategies are essential to preserve renal reserve in this population. Advances in biomarker-guided monitoring and targeted interventions may enable earlier identification of high-risk individuals and support precision approaches to nephroprotection after prematurity.

X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and lower limb deformities. We describe a case of XLH-rickets in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia, with a de novo non-canonical splice variant (c.1080-3C > G) in intron 9 of the PHEX gene, that has not been previously described.

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder that causes progressive renal failure, nephrolithiasis, and nephrocalcinosis in children. It is characterized by hepatic overproduction of oxalate. Conventional management, which involves combined liver–kidney transplantation, vitamin B6 supplementation, and intense hydration, does not address the underlying metabolic defect for most patients and it generally provides only supportive care. The first approved disease-modifying treatment for pediatric PH1 is Lumasiran, a small interfering RNA (siRNA) therapeutic. By specifically inhibiting the hepatic glycolate oxidase mRNA, Lumasiran lowers the production of oxalate at its origin. Along with fewer kidney stone events and stabilization of nephrocalcinosis, clinical trials (ILLUMINATE-A/B/C) showed significant decreases in urinary oxalate excretion. The most frequently reported adverse event is mild injection-site reactions, which are generally well tolerated. The molecular mechanism, pharmacokinetics, and clinical effectiveness of Lumasiran in children with PH1 are compiled in this review. We go over possible long-term safety concerns, the impact of early intervention on renal outcomes, and the function of siRNA therapies in pediatric precision medicine. Furthermore, we highlight Lumasiran’s importance as a model for targeted treatment in uncommon pediatric kidney diseases by considering it in the larger context of RNAi-based therapies. A paradigm shift in pediatric nephrology is signaled by Lumasiran, which changes the therapeutic approach from supportive care to precision, targeted medicine. Further research and empirical data will clarify its long-term advantages, the best ways to treat it, and the possible use of siRNA technologies for other genetic renal disorders.

Background/Objectives: Furosemide is frequently used in preterm neonates for respiratory and fluid management but has been linked to nephrocalcinosis (NC), a renal complication with unclear long-term impact. Clarifying this association is crucial for safe diuretic use. Methods: A focused literature review included observational studies published between 1982 and 2025 reporting NC incidence by renal ultrasound in preterm infants receiving furosemide. Data on sample size, gestational age, birth weight, NC prevalence, and furosemide dosing/duration were extracted. Results were synthesized descriptively. Results: Twenty-two studies with 1489 infants were included. NC prevalence ranged 6–83%, higher in infants <32 weeks’ gestation or <1500 g. Across studies, incidence clustered at 17–41% between 4 weeks and term-equivalent age. Cumulative furosemide doses were generally three- to fourfold higher in NC groups (10–19 mg/kg cumulative vs. ≤5 mg/kg cumulative, p < 0.001). A dose-dependent risk was noted, with odds ratios increasing above a cumulative dose of 10 mg/kg. Some studies found no significant dose–response, indicating variability and confounding factors. NC was detected during NICU stay or around term-equivalent age; ~60% resolved after discontinuation, while persistent cases were associated with prolonged exposure and renal dysfunction. A recent multicenter, dose-escalation randomized trial showed that carefully dosed furosemide (≤2 mg/kg/day for 28 days) did not increase NC risk, though electrolyte disturbances were more frequent. Conclusions: Evidence supports a dose-related association between furosemide and NC in preterm infants. When administered cautiously within defined limits, risk may be mitigated. Careful dosing, monitoring, and further studies are essential for safe use.

Background/Objectives: Fungal peritonitis is a severe complication of peritoneal dialysis (PD) associated with catheter removal, technique failure, and increased mortality. Although Candida albicans was traditionally the predominant pathogen, non-albicans Candida (NAC) species are increasingly reported. This review summarizes the epidemiology and outcomes of PD-associated NAC peritonitis. Methods: A systematic review was performed following PRISMA guidelines. PubMed/MEDLINE, Scopus, and Google Scholar were searched (January 1990–March 2026) for NAC peritonitis studies. Case reports and series with species-level identification were included. Results: 31 studies met the inclusion criteria, comprising 25 individual case reports and 6 case series, totaling 89 NAC isolates. Candida parapsilosis was the most frequently reported species (n = 50), followed by Candida tropicalis (n = 15). Other pathogens included Candida glabrata, Candida guilliermondii, and several rare NAC species. Fluconazole was the most commonly used initial antifungal therapy. Catheter removal was performed in most cases, with the majority of patients requiring transition to hemodialysis. Overall mortality was 20% among individual case reports vs. 24% across case series. Species-specific differences were observed: C. parapsilosis and C. guilliermondii were generally associated with favorable outcomes, whereas infections involving C. glabrata and other emerging NAC species more frequently required treatment escalation and were linked to poorer outcomes. Conclusions: NAC species are an important cause of fungal peritonitis in PD patients and show considerable heterogeneity in clinical outcomes and antifungal susceptibility. Early species-level identification and prompt catheter removal remain essential for optimal management.