The evolving landscape of clinical genetics is becoming increasingly relevant in the field of nephrology. HNF1B-associated renal disease presents with a diverse array of renal and extrarenal manifestations, prominently featuring cystic kidney disease and diabetes mellitus. For the genetic analyses, whole exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) were performed. Bioinformatics analysis was performed with Ingenuity Clinical Insights software (Qiagen). The patient’s electronic record was utilized after receiving informed consent. In this report, we present seven cases of HNF1B-associated kidney disease, each featuring distinct genetic abnormalities and displaying diverse extrarenal manifestations. Over 12 years, the mean decline in eGFR averaged −2.22 ± 0.7 mL/min/1.73 m². Diabetes mellitus was present in five patients, kidney dysplastic lesions in six patients, pancreatic dysplasia, hypomagnesemia and abnormal liver function tests in three patients each. This case series emphasizes the phenotypic variability and the fast decline in kidney function associated with HNF-1B-related disease. Additionally, it underscores that complex clinical presentations may have a retrospectively straightforward explanation through the use of diverse genetic analytical tools.

Introduction: Children with chronic kidney disease (CKD) are susceptible to infections due to impaired immunity, immunosuppressive treatments, and dialysis, which lead to increased mortality, morbidity, and hospitalization rates. Immunization is an efficient preventive strategy, but despite the long-existing guidelines, vaccination rates of children with CKD remain suboptimal. Aim: This review aims to summarize the available data on vaccine-preventable infection morbidity and vaccination coverage in children with CKD, the reasons of vulnerability and suboptimal vaccination of this population and strategies that have been proposed for their overcoming. Results: Vaccination coverage studies for children with CKD are limited and outdated but, despite their variability, they confirm suboptimal vaccine coverage. The vulnerability of children with CKD to infectious dis-eases has been better understood with advanced molecular studies of their immune re-sponse. Several barriers, some of them unique to this population, hamper adherence with vaccination guidelines. Targeted interventions at different levels that have already been tried in adults with CKD, such as enhanced communication with families, cocooning strategies for the most vulnerable, education of specialists on vaccines, and organization of vaccination teams, seem promising in improving vaccination rates and infection prevention. Conclusions: The suboptimal protection from infections of children with CKD can be improved with prioritization of vaccination in their complicated care.

Acute Q fever is usually asymptomatic or is associated with a mild self-limited course and a favorable outcome. The occurrence of endocarditis during acute infection by Coxiella burnetii is an emerging clinical entity observed in adults that has been attributed to an autoimmune complication of early infection. Herein, we report the first case of a previously healthy 2-year-old child with endocarditis complicated by septic embolic stroke, in which the identified microbiological evidence was suggestive of acute rather than chronic C. burnetii infection. The development of endocarditis in this case occurred in the absence of any autoimmune reaction, but in the context of a very mild form of congenital heart disease, a small ventricular septal defect, which might serve as a predisposing factor for endocarditis. This case suggests that acute Q fever endocarditis may affect children as well and can be attributed not only to autoimmune mechanisms but also to a potential effect of the infectious agent per se on the cardiac endothelium in patients with underlying heart defects, regardless of their severity.

Background/Objectives: Hepatocyte nuclear factor 1 beta (HNF1B)-associated disease is a major monogenic cause of pediatric cystic kidney disease. This study characterized the clinical, genetic, renal, and extrarenal spectrum of HNF1B-associated disease in a nationwide Greek pediatric cohort, with emphasis on renal functional variability during childhood. Methods: In this retrospective multicenter cohort study, 20 children aged <18 years with molecularly characterized HNF1B-associated disease were identified from eight pediatric nephrology centers across Greece. Clinical, genetic, laboratory, imaging, and kidney function data were analyzed. Estimated glomerular filtration rate (eGFR) was assessed at diagnosis and latest follow-up, and genotype–phenotype comparisons were performed. Results: Median age at diagnosis was 5.0 years. Copy-number variants were identified in 12 patients (60.0%), including ten 17q12 microdeletions and two whole-gene HNF1B deletions, while eight patients (40.0%) carried intragenic variants. Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney and urinary tract (CAKUT) in 20.0%. Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available measurements. Longitudinal eGFR data were available for 19 patients. Over a median follow-up of 5.0 years, mean eGFR remained largely unchanged (84.5 ± 19.8 vs. 84.0 ± 16.7 mL/min/1.73 m²); however, substantial interindividual variability was observed. No statistically significant genotype–phenotype associations were identified, although hypomagnesemia was more frequent among patients with deletion-type defects. Conclusions: This nationwide Greek pediatric cohort highlights the marked phenotypic heterogeneity of HNF1B-associated disease, characterized by predominant structural renal abnormalities and relatively stable kidney function during childhood. Larger studies are needed to better define genotype-specific outcomes.

Background: Despite the increased infection-related morbidity of patients with chronic kidney disease (CKD), their vaccination coverage is low. Cocooning strategy has not been adequately researched in this group. Our aim was to evaluate vaccination coverage of CKD pediatric and adult patients and their families. Methods: In this prospective, single-center study, we recorded the vaccination coverage of CKD pediatric and adult patients and their families who attend a tertiary University Hospital. Vaccination rates were calculated according to the national vaccination program. Vaccination of pediatric CKD patients was compared to a control group of healthy children. Results: The vaccination rate of 63 hemodialysis patients was low for influenza (61.9%), COVID-19 (79.4% primary, 3.2% booster doses), RSV (50%), herpes zoster (42.4%), hepatitis B (41.3%), Streptococcus pneumoniae (25.4%), tetanus–pertussis (3.2%), and HPV (0%). Their 30 underaged relatives had low vaccination rates for influenza (13.3%), DTaP/Tdap (80%), and Men B (50%), with adequate vaccination for other pathogens. The 53 children with CKD were poorly vaccinated for influenza (20.8%), COVID-19 (0%), Streptococcus pneumoniae (15.4%), Men B (30.2%), DTaP/Tdap (67.9%), MMR (78.8%) and VZV (86.5%), but their vaccination rates for influenza were significantly higher compared to controls. Their 108 adult relatives were inadequately vaccinated for influenza (27.8%), COVID-19 (1.9%), and Tdap (1.9%). Their 35 underaged relatives were poorly vaccinated for influenza (22.9%) and DTaP (80%). Conclusions: Vaccination coverage of CKD patients is suboptimal for vaccines particularly important for their condition and their family members are insufficiently informed about potential contribution to their protection by cocooning strategy.