Fabiola Cassaro

Pediatric cystic kidney diseases lie at the intersection of autosomal dominant polycystic kidney disease (ADPKD) and a broad spectrum of ciliopathies. The pediatric phenotype often reflects a spectrum that includes ARPKD-like presentations, nephronophthisis-related disease, Joubert syndrome-associated kidney involvement, Bardet–Biedl syndrome, and other ciliopathies that can mimic or overlap with PKD. While ADPKD is traditionally attributed to pathogenic variants in PKD1 and PKD2, the widespread deployment of next-generation sequencing has uncovered causal variants in novel loci, including GANAB (~0.3%), DNAJB11 (~0.1%), ALG5, ALG9, and recently, IFT140 and NEK8. This review outlines the expanding genetic and clinical landscape of ADPKD, integrating recent cohort data and molecular insights. We discuss radiologically atypical presentations, overlapping syndromic ciliopathies, and the mechanisms of metabolic reprogramming and primary ciliary dysregulation in cyst pathogenesis. Recent milestones in clinical trials and emerging therapeutic strategies, including perspectives on early risk stratification before the transition to adulthood, are also evaluated. Ultimately, this review emphasizes the necessity of gene-based classifications and precise genotype–phenotype correlations, aligned with the 2025 KDIGO Clinical Practice Guideline for ADPKD, to optimize risk stratification and advance precision medicine in the clinical management of ADPKD.

Background: Pilonidal sinus disease (PSD) is a chronic inflammatory condition commonly affecting the sacrococcygeal region, particularly in adolescents and young adults. Traditional open surgical approaches are associated with prolonged recovery, high complication rates, and recurrence. The advent of endoscopic techniques, such as Pediatric Endoscopic Pilonidal Sinus Treatment (PEPSiT), offers a promising alternative, reducing discomfort and potentially improving outcomes. The aims of the study were to compare the effectiveness and safety of PEPSiT versus traditional open excision in the treatment of PSD in the pediatric population. Methods: A retrospective, non-randomized study was conducted on patients aged 8–18 years who underwent surgery for PSD between 2019 and 2023 at our institution. Patients were divided into two groups: those undergoing traditional open excision (Group A) and those who received PEPSiT (Group B). Data were extracted from electronic medical records, including patient demographics, operative time, length of hospital stay, and post-operative complications such as recurrence and wound dehiscence. A minimum follow-up of 12 months was required. Statistical analysis was performed using the Chi-square test for categorical variables and Mann–Whitney U test for quantitative analysis. Results: A total of 61 patients were included in the study, with 40 undergoing Open surgery and 21 treated with PEPSiT. Mean operative time was shorter in the PEPSiT group (37.95 ± 10.86 min) compared with the Open group (47.85 ± 20.03 min), although this difference did not reach statistical significance (p = 0.052). Length of hospital stay was significantly reduced in the PEPSiT group (5.9 ± 8.73 h) compared with the Open group (15.40 ± 12.54 h) (p < 0.001). Post-operative complications were significantly less frequent following PEPSiT, with no cases of wound dehiscence observed compared with 27.5% in the Open group (p = 0.008). Recurrence rates were lower in the PEPSiT group (9.5%) than in the Open group (25%); however, this difference was not statistically significant (p = 0.149). Conclusions: PEPSiT is a feasible minimally invasive option for pediatric pilonidal sinus disease, associated with shorter hospital stay, faster wound healing, and fewer postoperative complications compared with open surgery, with comparable operative time. These results should nevertheless be interpreted with caution and warrant confirmation in prospective controlled studies.

Background: Congenital nephrogenic diabetes insipidus (CNDI) is a rare disorder of renal water handling, often presenting in early infancy with severe polyuria and hypernatremia. Differentiating CNDI from central diabetes insipidus (CDI) remains challenging, and delayed identification may result in inappropriate therapy, leading to adverse growth and neurodevelopmental outcomes. Case Presentation: We present the case of an 8‐month‐old male infant with a history of suspected CDI since birth. He was treated with desmopressin (dDAVP) without clinical benefit. The absence of the posterior pituitary bright spot at magnetic resonance imaging supported the CDI diagnosis. Considering persistent polyuria with recurrent episodes of hypernatremia and low urine osmolality, a diagnosis of CNDI was proposed, and plasma copeptin (CP) levels were determined. Measurement of CP showed markedly increased concentrations, suggesting renal tubular resistance to vasopressin. dDAVP therapy was discontinued and patient’s management was adjusted to include hydrochlorothiazide therapy and a high‐calorie diet restricted in sodium and protein. The patient showed progressive clinical improvement with reduction of polyuria and stabilization of serum sodium levels, although linear growth delay persisted. A final diagnosis of CNDI was confirmed by molecular analysis that identified rare compound heterozygous variants in the AQP2 gene, c.85G > A variant (maternal) and c.553C > G (paternal). Conclusions: This case highlights the diagnostic pitfalls of CNDI in infancy and underscores the pivotal role of early CP assessment and molecular genetic testing in distinguishing CNDI from CDI. Prompt recognition of CNDI is essential to avoid ineffective dDAVP therapy and to initiate a targeted multidisciplinary approach. Rare AQP2 mutations further expand the genotypic spectrum of CNDI and emphasize the need for heightened clinical awareness and early referral to specialized centers.

Pancreatic pseudocysts are rare in children and typically arise after episodes of pancreatitis or abdominal trauma. Their diagnosis generally relies on imaging studies, where they are expected to appear as fluid‐filled collections. We describe a case of a 3‐year‐old girl who has no previous occurrences of pancreatitis or trauma, in whom an unexpected heterogeneous, hypoechoic perigastric mass was incidentally detected during an ultrasound examination. The lesion demonstrated a consistent, firm appearance during an 8‐month follow‐up period and continued to be without symptoms. Laboratory examinations, including pancreatic enzymes assay, returned normal results, and imaging studies could not determine its characteristics. A laparoscopic excision was conducted for both diagnostic and treatment reasons. Histological and immunohistochemical analysis confirmed the diagnosis of a pancreatic pseudocyst. Postoperative recovery was uneventful. This case demonstrates a rare solid appearance of a pancreatic pseudocyst in a child who does not have previous pancreatic disease, emphasizing the critical importance of histopathological examination and surgical intervention when imaging results are unclear.

Objectives: Gastrostomy is essential for nutritional support in pediatric patients with severe neurological or chronic diseases. Percutaneous endoscopic gastrostomy (PEG) is widely used due to its rapid and minimally invasive nature. Laparoscopic techniques, such as laparoscopic gastrostomy (LAP) and laparoscopy‐assisted gastrostomy (LA‐PEG), offer alternative therapeutic options. Methods: A systematic review and meta‐analysis were conducted following PRISMA guidelines (PROSPERO CRD420251072017). Comparative studies published up to June 2025 were searched in PubMed, Embase, and CENTRAL. Pediatric patients (0–18 years) undergoing PEG, LAP, or LA‐PEG were included; those with simultaneous procedures were excluded. Primary outcomes were major complications, mortality, surgical conversion, and reinterventions. Secondary outcomes included minor complications, operative time, hospital stay length, and time to start enteral nutrition. Study quality was evaluated using ROBINS‐I and GRADE. Results: Nineteen studies with 6.642 patients (PEG = 3722, LAP = 2648, LA‐PEG = 272) were included. No significant differences between PEG and LAP were found in surgical conversion, mortality, minor complications, length of hospital stay, or time to initiate nutrition. LAP showed significantly fewer major complications ( p = 0.021) and reinterventions ( p = 0.039) but longer operative time ( p = 0.001). Similarly, LA‐PEG had lower major complication rates ( p = 0.001) and reinterventions ( p = 0.029) than PEG, with increased operative time ( p = 0.001). Mortality and minor complications did not differ significantly. Conclusions: Laparoscopic techniques (LAP and LA‐PEG) are safer than PEG concerning major complications and reinterventions, despite longer surgery times. PEG should be reserved for cases where laparoscopy is contraindicated.