Adolescence-onset atypical hemolytic uremic syndrome: is it different from infant-onset?

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare, mostly complement-mediated thrombotic microangiopathy. The majority of patients are infants. In contrast to infantile-onset aHUS, the clinical and genetic characteristics of adolescence-onset aHUS have not been sufficiently addressed to date. METHODS: A total of 28 patients (21 girls, 7 boys) who were diagnosed as aHUS between the ages of ≥10 years and <18 years were included in this study. All available data in the Turkish Pediatric aHUS registry were collected and analyzed. RESULTS: The mean age at diagnosis was 12.8±2.3 years. Extra-renal involvement was noted in 13 patients (46.4%); neurological involvement was the most common (32%). A total of 21 patients (75%) required kidney replacement therapy. Five patients (17.8%) received only plasma therapy and 23 (82%) of the patients received eculizumab. Hematologic remission and renal remission were achieved in 25 (89.3%) and 17 (60.7%) of the patients, respectively. Compared with the infantile-onset aHUS patients, adolescent patients had a lower complete remission rate during the first episode (p = 0.002). Genetic analyses were performed in all and a genetic variant was detected in 39.3% of the patients. The mean follow-up duration was 4.9±2.6 years. At the last visit, adolescent patients had lower eGFR levels (p = 0.03) and higher rates of chronic kidney disease stage 5 when compared to infantile-onset aHUS patients (p = 0.04). CONCLUSIONS: Adolescence-onset aHUS is a rare disease but tends to cause more permanent renal dysfunction than infantile-onset aHUS. These results may modify the management approaches in these patients.

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.

Comparative Analysis of Intensive Care Prognosis Scoring Systems and Acute Kidney Injury Scores (AKIN and pRIFLE) in Critically Ill Children.

The development of AKI (acute kidney injury) in critically ill patients in pediatric intensive care units (PICUs) is one of the most important factors affecting mortality. There are scoring modalities used to predict mortality in PICUs. We compared the AKIN (Acute Kidney Injury Network) and pRIFLE (pediatric risk, injury, failure, loss, and end stage) AKI classifications and PICU scoring modalities in this study. METHODS: A total of 716 children, whose serum creatinine levels were within the normal limits at the time of admission to the PICU between January 2018 and December 2020, were included. Along with the demographic and clinical variables, AKIN and pRIFLE classifications were recorded at the most advanced stage of AKI. Along with the PIM-2, PRISM III, and PELOD-2 scores, the highest value of the pSOFA score was recorded. RESULTS: According to the pRIFLE and AKIN classifications, 62 (8.7%) patients developed kidney injury, which had a statistically significant effect on mortality. The occurrence of renal injury was found to be statistically strongly and significantly correlated with high PRISM III, PELOD-2, and pSOFA scores. When the stages of kidney injury according to the AKIN criteria were compared with the PRISM III, PELOD 2, and pSOFA scores, a significant difference was found between the patients who did not develop AKI and those who developed stage 1, stage 2, and stage 3 kidney injury. For the PRISM III, PELOD 2, and pSOFA scores, there were no significant differences between the stages according to the AKIN criteria. A substantial difference was discovered between the patients who did not develop AKI and those who were in the risk, injury, and failure plus loss stages according to the pRIFLE criteria. According to the PIM-2 ratio and pRIFLE criteria, there was a statistically significant difference between patients in the injury and failure plus loss stages and those who did not develop AKI. CONCLUSIONS: Our study is the first pediatric study to show a substantial correlation between the variables associated with the PICU scoring modalities in critically ill children with AKI. Identifying the risk factors for the development of AKI and planning antimicrobial regimens for patients with favorable prognoses at the time of PICU admission could lower mortality rates.

Rituximab Treatment in Acute Disseminated Encephalomyelitis Associated with Salmonella Infection.

Acute disseminated encephalomyelitis (ADEM) is an inflammatory, demyelinating, and rapidly progressive disorder of the central nervous system. This condition is also known as postinfectious encephalomyelitis, and it is characterized by multifocal lesions in the brain and spinal cord with widespread neurological findings. High doses of intravenous (IV) methylprednisolone, intravenous immunoglobulin (IVIG), and plasma exchange (PLEX) treatments comprise the first-line therapy. There are limited pediatric case reports refractory to standard treatment. Here, we present the case of a 17-year-old girl diagnosed with ADEM associated with Salmonella infection, which was treated with rituximab.

The risk factors for recurrence of febrile urinary tract infection and renal scarring in children with functional urinary incontinence.

OBJECTIVES: Functional urinary incontinence is often associated with recurrent urinary tract infection (UTI), vesicoureteral reflux (VUR), and renal scarring. This study aims to evaluate the correlations between urodynamic findings and recurrence of UTI, VUR, and renal scarring in children with functional incontinence. METHODS: In this retrospective observational study, data on the presence of VUR, urodynamics and 99Tc-dimercaptosuccinic acid scintigraphy findings, and episodes of febrile UTI were obtained from patients' records. The patients had at least 3 years of follow-up. RESULTS: There were significant associations between recurrence of UTI and decreased bladder capacity (hazard ratio: 1.321, P = .028). The receiver operator characteristic curve analysis showed a cutoff value for compliance of 13.25 mL/cmH2 O for renal scarring (P = .000). There was a significant association between bladder wall thickening and VUR (odds ratio: 2.311, P = .008). The compliance had a cutoff value of 14.7 mL/cm H2 O (P = .023) for severe VUR. The frequency of renal scarring was higher in patients with severe VUR and dysfunctional voiding (P = .001 and P = .041, respectively). The independent risk factors for renal scarring were low compliance, severe VUR, and dysfunctional voiding in children with functional incontinence, but recurrence of febrile UTI was not a risk factor for renal scarring. Decreased bladder capacity was a risk factor for recurrence of febrile UTI. CONCLUSIONS: The present study suggests that low compliance, severe VUR, and dysfunctional voiding, but not the recurrence of febrile UTI, are the independent risk factors for renal scarring in children with functional incontinence, and decreased bladder capacity is the risk factor for the recurrence of febrile UTI.

A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis.

We present a 9-month old boy with cystinosis admitted to our hospital with the complaints of vomiting, diarrhea and seizure. While he was hospitalized in a pediatric intensive care unit due to worsening of his signs related to cystinosis, within hours, he suffered complications of septic shock, acute renal failure, and disseminated intravascular coagulation, due to invasive Neisseria meningitidis serogroup W disease. Our patient is the first reported case of invasive meningococcal disease with cystinosis. Clinicians should consider that the unexpected and serious clinical findings of invasive meningococcal disease can mimic and/or masquerade as other metabolic diseases. Vaccination strategies, according to serogroup epidemiology and age distribution, should be implemented for the prevention of meningococcal infections.

Risk factors for development of urinary tract infection in children with nephrolithiasis.

AIM: Nephrolithiasis is one of the causes of urinary tract infection (UTI). In this study, we investigated risk factors for UTI in children with nephrolithiasis. METHODS: The data from the patients with nephrolithiasis were evaluated in this retrospective follow-up study. Patients with a history of UTI before admission and congenital anomaly of kidney or urinary tract were excluded. The patients were divided into two groups: patients with UTI (recurrent UTI and single UTI) and patients without UTI. RESULTS: A total of 599 patients were included in this study. UTI occurred in 181 (30.2%) patients. There was a positive association between the size of stone and UTI (odds ratio (OR): 1.355, P = 0.007). Receiver operating characteristic curve analysis showed that the cut-off value of the size of stone for UTI was 5.3 mm, with a sensitivity of 74.9% and a specificity of 66.1% (area under the curve: 0.572 ± 0.028, P = 0.013). The presence of a metabolic risk factor and age at diagnosis under 2 years were significantly associated with both UTI and recurrence of UTI (OR: 2.272, P = 0.021, OR: 1.809, P = 0.028, respectively, for metabolic risk factor; OR: 1.212, P = 0.041, OR: 1.122, P = 0.046, respectively, for age at diagnosis under 2 years). Hypercalciuria was significantly associated with the recurrence of UTI (OR: 1.854, P = 0.017). CONCLUSIONS: The age at diagnosis, the presence of a metabolic risk factor and size of stone are significant risk factors for UTI in children with nephrolithiasis. The patients with idiopathic hypercalciuria, metabolic risk factor and age at diagnosis under 2 years have increased risk of recurrence of UTI.

Platelet Activation and Inflammation in Hypertensive Children with Non-dipper and Dipper Status.

INTRODUCTION: The patients with non-dipper hypertension have an increased risk for target organ damage because of inflammation and platelet activation. In this study, we aimed to investigate the association between ambulatory blood pressure monitoring (ABPM) values and inflammation with platelet indices in children with dipper and non-dipper hypertension. MATERIALS AND METHODS: A total of 153 patients who underwent ABPM were included in this retrospective study. The participants were divided into three groups (61 non-dipper hypertensive, 28 dipper hypertensive, 64 normotensive). Neutrophil and platelet count, neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), mean platelet volume (MPV), plateletcrit (PCT), and platelet distribution width (PDW) were matched data among groups. RESULTS: The neutrophil counts were higher in the non-dipper and dipper groups compared with the normotensive group (P < .05, P < .05, respectively). Also, MPV levels were significantly higher in the non-dipper and dipper groups than in normotensive group (P < .05, P < .05, respectively). Logistic regression analysis showed significant association between non-dipper status and MPV with platelet count (P < .05, P < .05, respectively). The abilities of MPV and platelet count to predict the non-dipper status were determined by receiver operating characteristic curve analysis (areas under the curve were 0.709 and 0.604, respectively). CONCLUSIONS: The higher MPV and neutrophil count may be potential indicators of increased risk for the development of hypertension in children. In addition, MPV and platelet count may help to determine the presence of non-dipper status in children with hypertension.