Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.

Introduction: In the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups. Methods: This multicenter, cross-sectional, and case-control study included 75 genetically confirmed pediatric ADPKD patients (5-18 years) and 27 controls. Kidney function was assessed by eGFR calculated from serum creatinine and cystatin C using the CKiD-U25 equation. Blood pressure was assessed by both office and 24-hour ambulatory measurements. Kidney volume was calculated from MRI using the stereological method. Total kidney volume was adjusted for the height (htTKV). Patients were stratified from A to E classes according to the Leuven Imaging Classification (LIC) using MRI-derived htTKV. Results: Median (Q1-Q3) age of the patients was 6.0 (2.0-10.0) years, 56% were male. There were no differences in sex, age, height-SDS, or GFR between the patient and control groups. Of the patients, 89% had PKD1 and 11% had PKD2 mutations. Non-missense mutations were 73% in PKD1 and 75% in PKD2. Twenty patients (27%) had hypertension based on ABPM. Median htTKV of the patients was significantly higher than controls (141 vs. 117 ml/m, p = 0.0003). LIC stratification revealed Classes A (38.7%), B (28%), C (24%), and D + E (9.3%). All children in class D + E and 94% in class C had PKD1 variants. Class D + E patients had significantly higher blood pressure values and hypertension compared to other classes (p > 0.05 for all). Discussion: This study distinguishes itself by using MRI-based measurements of kidney volume to stratify pediatric ADPKD patients into specific risk groups. It is important to note that PKD1 mutation and elevated blood pressure were higher in the high-risk groups stratified by age and kidney volume. Our results need to be confirmed in further studies.

Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is characterized by increased endogenous oxalate production and deposition as calcium oxalate crystals. The main manifestations are nephrocalcinosis/nephrolithiasis, causing impaired kidney function. We aimed to evaluate the clinical characteristics and overall outcomes of paediatric PH1 patients in Turkey. METHODS: This is a nationwide, multicentre, retrospective study evaluating all available paediatric PH1 patients from 15 different paediatric nephrology centres in Turkey. Detailed patient data was collected which included demographic, clinical and laboratory features. Patients were classified according to their age and characteristics at presentation: patients presenting in the first year of life with nephrocalcinosis/nephrolithiasis (infantile oxalosis, Group 1), cases with recurrent nephrolithiasis diagnosed during childhood (childhood-onset PH1, Group 2), and asymptomatic children diagnosed with family screening (Group 3). RESULTS: Forty-eight patients had a mutation consistent with PH1. The most common mutation was c.971_972delTG (25%). Infantile oxalosis patients had more advanced chronic kidney disease (CKD) or kidney failure necessitating dialysis (76.9% vs. 45.5%). These patients had much worse clinical course and mortality rates seemed to be higher (23.1% vs. 13.6%). Patients with fatal outcomes were the ones with significant comorbidities, especially with cardiovascular involvement. Patients in Group 3 were followed with better outcomes, with no kidney failure or mortality. CONCLUSION: PH1 is not an isolated kidney disease but a systemic disease. Family screening helps to preserve kidney function and prevent systemic complications. Despite all efforts made with traditional treatment methods including transplantation, our results show devastating outcomes or mortality.

Clinical and subclinical acute kidney injury in children with mild-to-moderate COVID-19.

BACKGROUND: Our aim was to identify acute kidney injury (AKI) and subacute kidney injury using both KDIGO criteria and urinary biomarkers in children with mild/moderate COVID-19. METHODS: This cross-sectional study included 71 children who were hospitalized with a diagnosis of COVID-19 from 3 centers in Istanbul and 75 healthy children. We used a combination of functional (serum creatinine) and damage (NGAL, KIM-1, and IL-18) markers for the definition of AKI and subclinical AKI. Clinical and laboratory features were evaluated as predictors of AKI and subclinical AKI. RESULTS: Patients had significantly higher levels of urinary biomarkers and urine albumin-creatinine ratio than healthy controls (p < 0.001). Twelve patients (16.9%) developed AKI based on KDIGO criteria, and 22 patients (31%) had subclinical AKI. AKI group had significantly higher values of neutrophil count on admission than both subclinical AKI and non-AKI groups (p < 0.05 for all). Neutrophil count was independently associated with the presence of AKI (p = 0.014). CONCLUSIONS: This study reveals that even children with a mild or moderate disease course are at risk for AKI. Association between neutrophil count and AKI may point out the role of inflammation in the development of AKI. IMPACT: The key message of our article is that not only children with severe disease but also children with mild or moderate disease have an increased risk for kidney injury due to COVID-19. Urinary biomarkers enable the diagnosis of a significant number of patients with subclinical AKI in patients without elevation in serum creatinine. Our findings reveal that patients with high neutrophil count may be more prone to develop AKI and should be followed up carefully. We conclude that even children with mild or moderate COVID-19 disease courses should be evaluated for AKI and subclinical AKI, which may improve patient outcomes.

Management of pediatric dialysis and kidney transplant patients after natural or man-made disasters.

Pediatric patients on kidney replacement therapy (KRT) are among the most vulnerable during large-scale disasters, either natural or man-made. Hemodialysis (HD) treatments may be impossible because of structural damage and/or shortage of medical supplies, clean water, electricity, and healthcare professionals. Lack of peritoneal dialysis (PD) solutions and increased risk of infectious/non-infectious complications may make PD therapy challenging. Non-availability of immunosuppressants and increased risk of infections may result in graft loss and deaths of kidney transplant recipients. Measures to mitigate these risks must be considered before, during, and after the disaster including training of staff and patients/caregivers to cope with medical and logistic problems. Soon after a disaster, if the possibility of performing HD or PD is uncertain, patients should be directed to other centers, or the duration and/or number of HD sessions or the PD prescription adapted. In kidney transplant recipients, switching among immunosuppressants should be considered in case of non-availability of the medications. Post-disaster interventions target treating neglected physical and mental problems and also improving social challenges. All problems experienced by pediatric KRT patients living in the affected area are applicable to displaced patients who may also face extra risks during their travel and also at their destination. The need for additional local, national, and international help and support of non-governmental organizations must be anticipated and sought in a timely manner.

Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood. Methods: We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings. Results: We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1-6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2-6.2) years. Data on PKHD1 variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age. Conclusion: In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype.

Increased risk for kidney sequelae surrogates in survivors of Wilms tumor.

BACKGROUND: There is evidence of increased risk of hypertension, albuminuria, and development of chronic kidney disease (CKD) in long-term follow-up of survivors of Wilms tumor (WT). However, most studies were conducted in heterogeneous groups, including patients with solitary kidney. In addition, little is known about tubular dysfunction. This study aimed to investigate kidney sequelae, including CKD development, hypertension, and glomerular and tubular damage in WT survivors. METHODS: This cross-sectional, single-center study included 61 patients treated for WT. Surrogates for kidney sequelae were defined as presence of at least one of the following: decrease in GFR for CKD, hypertension detected by ambulatory blood pressure monitoring, albuminuria (albumin-to-creatinine ratio [ACR] > 30 mg/g), or increase in at least one tubular biomarker (beta-2-microglobulin, neutrophil gelatinase-associated lipocalin, kidney injury marker-1, and liver fatty acid-binding protein) in 24-h urine. RESULTS: Median age of patients was 11.7 years, with median follow-up of 8.8 years. Thirty-eight patients (62%) had at least one surrogate for kidney sequelae. Twenty-four patients (39%) had CKD, 14 patients (23%) had albuminuria, 12 patients (21%) had hypertension, and 11 patients (18%) had tubular damage. Urine ACR was significantly higher in patients with advanced tumor stage and patients with nephrotoxic therapy than their counterparts (p < 0.05), but neither eGFR nor tubular biomarkers showed any association with tumor- or treatment-related factors. CONCLUSIONS: A considerable number of patients with WT have kidney sequelae, especially early-stage CKD with a high prevalence. Albuminuria emerges as a marker associated with tumor stages and nephrotoxic treatment. A higher resolution version of the Graphical abstract is available as Supplementary information.

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.

Recessive mutations in the genes encoding the four subunits of the tRNA splicing endonuclease complex (TSEN54, TSEN34, TSEN15, and TSEN2) cause various forms of pontocerebellar hypoplasia, a disorder characterized by hypoplasia of the cerebellum and the pons, microcephaly, dysmorphisms, and other variable clinical features. Here, we report an intronic recessive founder variant in the gene TSEN2 that results in abnormal splicing of the mRNA of this gene, in six individuals from four consanguineous families affected with microcephaly, multiple craniofacial malformations, radiological abnormalities of the central nervous system, and cognitive retardation of variable severity. Remarkably, unlike patients with previously described mutations in the components of the TSEN complex, all the individuals that we report developed atypical hemolytic uremic syndrome (aHUS) with thrombotic microangiopathy, microangiopathic hemolytic anemia, thrombocytopenia, proteinuria, severe hypertension, and end-stage kidney disease (ESKD) early in life. Bulk RNA sequencing of peripheral blood cells of four affected individuals revealed abnormal tRNA transcripts, indicating an alteration of the tRNA biogenesis. Morpholino-mediated skipping of exon 10 of tsen2 in zebrafish produced phenotypes similar to human patients. Thus, we have identified a novel syndrome accompanied by aHUS suggesting the existence of a link between tRNA biology and vascular endothelium homeostasis, which we propose to name with the acronym TRACK syndrome (TSEN2 Related Atypical hemolytic uremic syndrome, Craniofacial malformations, Kidney failure).

Elevated Urinary VEGF-A, Transferrin, and Angiotensinogen Levels in Normoalbuminuric Children and Adolescents with Type 1 Diabetes: Can They Be Early Markers of Diabetic Kidney Disease?

OBJECTIVE: We hypothesized that diabetic kidney disease (DKD) begins early, before albuminuria occurs. We therefore aimed to assess potential early urinary biomarkers of DKD in normoalbuminuric and normotensive children and adolescents with type 1 diabetes (T1D) to evaluate the relationship between these markers and clinical and laboratory risk factors for DKD. METHODS: This cross-sectional study included 75 children and adolescents with T1D (62% females, mean age 13.9 ± 3.2 years) with normoalbuminuria (an albumin/creatinine ratio [ACR] below 30 mg/g creatinine). Fifty-five age- and sex-matched healthy children and adolescents served as controls. For the assessment of early DKD, urinary levels of angiotensinogen (AGT), transferrin, nephrin, vascular endothelial growth factor-A (VEGF-A), and kidney injury molecule-1 (KIM-1) were measured in adequately collected 24-h urine samples using enzyme-linked immunoassays. RESULTS: The mean disease duration was 7.3 ± 3.2 (range 2.1-15.7) years, and the mean HbA1c level was 8.8 ± 1.4%. The median levels of urine VEGF-A/Cr, AGT/Cr, and transferrin/Cr were significantly higher in normoalbuminuric patients with T1D, compared with those of controls (p < 0.001, p = 0.02, and p = 0.001, respectively), but there was no difference in nephrin/Cr and KIM-1/Cr between the 2 groups. Although none of the patients had albuminuria, the median level of urine ACR was significantly higher in the patient group than the control group (p = 0.003). The ACR was positively correlated with glomerular filtration rate (GFR). Urinary transferrin/Cr, AGT/Cr, and VEGF-A/Cr were significantly correlated with ACR, but not with either GFR or diabetic risk factors including HbA1c or disease duration. CONCLUSION: Normoalbuminuric and normotensive children and adolescents with T1D have elevated urinary VEGF, AGT, and transferrin levels, which may indicate the development of DKD before albuminuria occurs.

Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the fact that genotype-phenotype correlations have been limited to the association of biallelic null variants in PKHD1 with the most severe phenotypes. In this observational study we analyzed a deep clinical dataset of 304 patients with ARPKD from two independent cohorts and identified novel genotype-phenotype correlations during childhood and adolescence. Biallelic null variants frequently show severe courses. Additionally, our data suggest that the affected region in PKHD1 is important in determining the phenotype. Patients with two missense variants affecting amino acids 709-1837 of fibrocystin or a missense variant in this region and a null variant less frequently developed chronic kidney failure, and patients with missense variants affecting amino acids 1838-2624 showed better hepatic outcome. Variants affecting amino acids 2625-4074 of fibrocystin were associated with poorer hepatic outcome. Thus, our data expand the understanding of genotype-phenotype correlations in pediatric ARPKD patients and can lay the foundation for more precise and personalized counselling and treatment approaches.

Distintos enfoques adoptados por los médicos para tratar la nefrolitiasis en pediatría: estudio basado en una encuesta / Different approaches among physicians to treat pediatric stone disease: a survey-based study

Introducción. Los pediatras, cirujanos y subespecialistas, como urólogos y nefrólogos pediátricos, participan en el diagnóstico y tratamiento de la nefrolitiasis pediátrica. El objetivo fue determinar los enfoques de distintas disciplinas y evaluar las diferencias en sus protocolos de diagnóstico y tratamiento habituales.Población y métodos. Cuestionario administrado a participantes de sesiones sobre nefrolitiasis en congresos nacionales en 2017 para evaluar las rutinas de diagnóstico y tratamiento de la nefrolitiasis entre distintas especialidades (cirujanos y pediatras) y subespecialidades (nefrólogos pediátricos y urólogos pediátricos).Resultados. Se analizaron 324 cuestionarios de 88 pediatras, 121 urólogos, 23 cirujanos pediátricos, 54 nefrólogos pediátricos y 38 urólogos pediátricos. Ambos grupos coincidieron en la necesidad de una evaluación metabólica. Para los cálculos ureterales distales ≥6 mm, los cirujanos preferían una ureteroscopía; los pediatras, una litotricia por ondas de choque (LOC) (p < 0,001); y los subespecialistas, una ureteroscopía (p = 0,636). Para los cálculos en la parte inferior de los cálices renales < 1 cm, los cirujanos y los subespecialistas preferían la LOC y los pediatras, la hidratación (p < 0,001; p = 0,371). Para los cálculos de entre 1,1 cm y 2 cm, los cirujanos preferían la cirugía retrógrada intrarrenal (CRIR) y la LOC, y los pediatras, la LOC (p = 0,001). Para los cálculos más grandes, los cirujanos y subespecialistas preferían la nefrolitotomía percutánea (NLP) y los pediatras, la LOC (p = 0,458; p = 0,001).Conclusión. Existen diferencias entre las disciplinas que participan activamente en el diagnóstico y tratamiento de la nefrolitiasis

Introduction. Pediatricians, surgeons and subspecialties as pediatric urology and nephrology are involved in the diagnosis and treatment of pediatric renal stone disease (RSD). The aim of this study was to determine diagnostic and treatment approaches, of different disciplines, and to assess differences in their routine diagnostic and treatment protocols.Population and methods. A questionnaire was designed and administered to the participants of the RSD sessions in national congresses of all disciplines in 2017 to evaluate the diagnostic and treatment routines of specialties (surgeons and pediatricians) and subspecialties (pediatric nephrologists and pediatric urologists) for RSD. Results. A total, of 324 questionnaires were analyzed, from 88 pediatricians (27 %), 121 urologists (37 %), 23 pediatric surgeons (7 %), 54 pediatric nephrologists (17 %), and 38 pediatric urologists (12 %). Both groups agreed on the necessity of metabolic evaluation. For distal ureter stones that were ≥ 6 mm; surgeons preferred ureteroscopy (URS), pediatricians preferred shock wave lithotripsy (SWL) (p < 0.001) and subspecialties preferred URS for the treatment (p = 0.636). For lower calix stones less than 1 cm surgeons and subspecialists preferred SWL, while pediatricians preferred hydration (p < 0.001, p = 0.371). For the stone between 1.1 and 2 cm, surgeons preferred intrarenal surgery (RIRS) and SWL, pediatricians preferred SWL (p = 0.001). For larger stones, surgeons and subspecialists preferred percutaneous nephrolithotomy (PCNL), and pediatricians preferred SWL (p = 0.458 p = 0.001). Pediatric urologist chose low-dose computerized tomography as a diagnostic radiologic evaluation (p = 0.029).Conclusion. There are differences between the disciplines who take an active role in diagnosis and treatment of RSD.

Different approaches among physicians to treat pediatric stone disease: a survey-based study. / Distintos enfoques adoptados por los médicos para tratar la nefrolitiasis en pediatría: estudio basado en una encuesta.

INTRODUCTION: Pediatricians, surgeons and subspecialties as pediatric urology and nephrology are involved in the diagnosis and treatment of pediatric renal stone disease (RSD). The aim of this study was to determine diagnostic and treatment approaches, of different disciplines, and to assess differences in their routine diagnostic and treatment protocols. POPULATION AND METHODS: A questionnaire was designed and administered to the participants of the RSD sessions in national congresses of all disciplines in 2017 to evaluate the diagnostic and treatment routines of specialties (surgeons and pediatricians) and subspecialties (pediatric nephrologists and pediatric urologists) for RSD. RESULTS: A total, of 324 questionnaires were analyzed, from 88 pediatricians (27 %), 121 urologists (37 %), 23 pediatric surgeons (7 %), 54 pediatric nephrologists (17 %), and 38 pediatric urologists (12 %). Both groups agreed on the necessity of metabolic evaluation. For distal ureter stones that were ≥ 6 mm; surgeons preferred ureteroscopy (URS), pediatricians preferred shock wave lithotripsy (SWL) (p < 0.001) and subspecialties preferred URS for the treatment (p = 0.636). For lower calix stones less than 1 cm surgeons and subspecialists preferred SWL, while pediatricians preferred hydration (p < 0.001, p = 0.371). For the stone between 1.1 and 2 cm, surgeons preferred intrarenal surgery (RIRS) and SWL, pediatricians preferred SWL (p = 0.001). For larger stones, surgeons and subspecialists preferred percutaneous nephrolithotomy (PCNL), and pediatricians preferred SWL (p = 0.458 p = 0.001). Pediatric urologist chose low-dose computerized tomography as a diagnostic radiologic evaluation (p = 0.029). CONCLUSION: There are differences between the disciplines who take an active role in diagnosis and treatment of RSD.

Introducción. Los pediatras, cirujanos y subespecialistas, como urólogos y nefrólogos pediátricos, participan en el diagnóstico y tratamiento de la nefrolitiasis pediátrica. El objetivo fue determinar los enfoques de distintas disciplinas y evaluar las diferencias en sus protocolos de diagnóstico y tratamiento habituales. Población y métodos. Cuestionario administrado a participantes de sesiones sobre nefrolitiasis en congresos nacionales en 2017 para evaluar las rutinas de diagnóstico y tratamiento de la nefrolitiasis entre distintas especialidades (cirujanos y pediatras) y subespecialidades (nefrólogos pediátricos y urólogos pediátricos). Resultados. Se analizaron 324 cuestionarios de 88 pediatras, 121 urólogos, 23 cirujanos pediátricos, 54 nefrólogos pediátricos y 38 urólogos pediátricos. Ambos grupos coincidieron en la necesidad de una evaluación metabólica. Para los cálculos ureterales distales ≥6 mm, los cirujanos preferían una ureteroscopía; los pediatras, una litotricia por ondas de choque (LOC) (p < 0,001); y los subespecialistas, una ureteroscopía (p = 0,636). Para los cálculos en la parte inferior de los cálices renales < 1 cm, los cirujanos y los subespecialistas preferían la LOC y los pediatras, la hidratación (p < 0,001; p = 0,371). Para los cálculos de entre 1,1 cm y 2 cm, los cirujanos preferían la cirugía retrógrada intrarrenal (CRIR) y la LOC, y los pediatras, la LOC (p = 0,001). Para los cálculos más grandes, los cirujanos y subespecialistas preferían la nefrolitotomía percutánea (NLP) y los pediatras, la LOC (p = 0,458; p = 0,001). Conclusión. Existen diferencias entre las disciplinas que participan activamente en el diagnóstico y tratamiento de la nefrolitiasis.

Natural history of patients with infantile nephrolithiasis: what are the predictors of surgical intervention?

BACKGROUND: We evaluated the risk factors for the requirement of surgical intervention in infants with nephrolithiasis. METHODS: The medical records of 122 (156 kidney units (KU)) infants were reviewed. The clinical features, stone characteristics, changes in stone status, and treatment protocols were noted. The stone status of the KU was categorized into 3 groups according to the change in size between the first and last ultrasound: resolution, unchanged, and growth. RESULTS: The median age was 8 months (r: 2-12). The median length of follow-up was 16 months (r: 10-36). Resolution was detected in 94 KUs (60%). Stone growth was detected in 39 KUs (25%), and stone size was unchanged in 23 KUs (15%). Surgical intervention was required in 26 patients (17%). A history of intensive care unit (ICU) follow-up and a stone size > 5 mm at time of diagnosis were defined as independent risk factors for stone growth (p = 0.005, < 0.001, respectively). The surgical intervention rate was higher in stones > 5 mm and stones with pelvic localization (p = 0.018, 0.021, respectively). Stone resolution was higher in patients with stone size ≤ 5 mm (p = 0.018). CONCLUSION: A stone size > 5 mm at the time of diagnosis and a history of ICU follow-up are independent risk factors for stone growth. Pelvic localization of stones and stones > 5 mm are associated with an increased risk of surgical intervention.

Evaluation of non-infectious complications of peritoneal dialysis in children: a multicenter study.

BACKGROUND: Peritoneal dialysis (PD) is the most common kidney replacement therapy in children. Complications associated with PD affect treatment success and sustainability. The aim of this study was to investigate the frequency of PD-related non-infectious complications and the predisposing factors. METHODS: Retrospective data from 11 centers in Turkey between 1998 and 2018 was collected. Non-infectious complications of peritoneal dialysis (NICPD), except metabolic ones, in pediatric patients with regular follow-up of at least 3 months were evaluated. RESULTS: A total of 275 patients were included. The median age at onset of PD and median duration of PD were 9.1 (IQR, 2.5-13.2) and 7.6 (IQR, 2.8-11.9) years, respectively. A total of 159 (57.8%) patients encountered 302 NICPD within the observation period of 862 patient-years. The most common NIPCD was catheter dysfunction (n = 71, 23.5%). At least one catheter revision was performed in 77 patients (28.0%). Longer PD duration and presence of swan neck tunnel were associated with the development of NICPD (OR 1.191; 95% CI 1.079-1.315, p = 0.001 and OR 1.580; 95% CI 0.660-0.883, p = 0.048, respectively). Peritoneal dialysis was discontinued in 145 patients; 46 of whom (16.7%) switched to hemodialysis. The frequency of patients who were transferred to hemodialysis due to NICPD was 15.2%. CONCLUSIONS: Peritoneal dialysis-related non-infectious complications may lead to discontinuation of therapy. Presence of swan neck tunnel and long duration of PD increased the rate of NICPD. Careful monitoring of patients is necessary to ensure that PD treatment can be maintained safely.

Efficacy of tolterodine in children with overactive bladder.

AIM: Tolterodine is an anticholinergic drug used for the treatment of overactive bladder. We evaluated the effects of tolterodine on clinical symptoms and compared its efficacy with that of oxybutynin in terms of bladder capacity, bladder wall thickness, and post-void residual volume in children with overactive bladder. MATERIAL AND METHODS: Twenty-six patients who were treated with tolterodine for overactive bladder (20 girls, mean age 8.0±2.2 years) were evaluated retrospectively. Twenty patients with overactive bladder who had undergone oxybutynin treatment (15 girls, mean age 7.6±1.8 years) served as the control group. Dysfunctional voiding symptom scoring was used to evaluate the clinical response to tolterodine. To investigate the effect of treatment on the bladder, ultrasonographic data at baseline and the third month were compared with the oxybutynin group. RESULTS: The dysfunctional voiding symptom scores significantly decreased after the third month of tolterodine treatment (p<0.001). Bladder capacity significantly increased (p<0.001), and filled bladder wall thickness decreased (p=0.007); however, post-void residual volumes significantly increased (p<0.001) at the third month. No serious adverse effects were recorded during tolterodine treatment. The increase in bladder capacity at the third month in the tolterodine group was similar to that in the oxybutynin group (p=0.77), but the decrease in filled bladder wall thickness was significantly greater in the tolterodine group (p=0.019). CONCLUSION: Tolterodine remarkably ameliorates the clinical symptoms of overactive bladder in a short time, and seems to be as effective as oxybutynin for the treatment of overactive bladder in children. Its effect on reduction of bladder wall thickness appears to be superior to that of oxybutynin.

Renal Crisis in Children during Armed Conflict.

Armed conflicts continue to occur in some regions of the globe, mostly in developing countries. These man-made disasters affect all segments of the population; however, some groups are more vulnerable and suffer more seriously from the unfavorable consequences of such conflicts. Among these, the pediatric population deserves special attention because they cannot protect themselves, and hence carry a higher threat of injuries and probability of death during conflicts. In addition, children who do survive the disaster are more prone to exploitation. Pediatric victims, including those who sustain acute kidney injury or those suffering from chronic kidney disease before armed conflicts, face higher risks of morbidity and mortality as a result of treatment problems, specifically limited dialysis options. Displaced children, forced to flee their homes as a result of armed conflicts, are also at risk for various health problems because they may not find ideal circumstances for disease treatment. Making preparations in anticipation of armed conflicts, such as disaster-relief scenarios and action plans, may be useful to decrease the death toll in these children, who are dependent on their caregivers for survival. Adopting principles of disaster nephrology may contribute to improved survival chances of pediatric kidney patients in chaotic circumstances.

A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract.

Congenital anomalies of the kidney and urinary tract (CAKUT) is the leading cause of end-stage kidney disease in children. Until now, more than 50 monogenic causes for CAKUT have been described, all of which only explain 10% to 20% of all patients with CAKUT, suggesting the presence of additional genes that cause CAKUT when mutated. Herein, we report two siblings of a consanguineous family with CAKUT, both of which rapidly progressed to chronic kidney disease in early childhood. Whole-exome sequencing followed by homozygosity mapping identified a homozygous variation in HOXA11. We therefore showed for the first time an association between a homozygous HOXA11 variation with CAKUT in humans, expanding the genetic spectrum of the disease.