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.

Long-term effect of eplerenone treatment in children with chronic allograft nephropathy.

BACKGROUND: Literature supports the protective role of mineralocorticoid antagonist (MRA) against the renal injury induced by aldosterone in kidney transplant recipients. However, there is limited data available regarding the safety and efficacy of MRAs in pediatric renal transplant patients. Therefore, we aimed to investigate the effect of long-term eplerenone administration in children with chronic allograft nephropathy (CAN). METHODS: Twenty-six renal transplant children with biopsy-proven CAN, an estimated glomerular filtration rate (eGFR ) > 40 mL/min per 1.73 m2 and with a significant proteinuria were included. Selected patients were randomly divided into two groups as follows; Group 1 (n = 10) patients received 25 mg/day eplerenone and Group 2 (n = 16) patients did not receive eplerenone for 36 months. Patients were examined in the renal transplant outpatient clinic biweekly for the first month and once a month thereafter. The primary outcome of the patients was compared. RESULTS: Mean eGFR stayed stable in group 1 patients, but significantly decreased in group 2 at 36 months (57.53 ± 7.53 vs. 44.94 ± 8.04 mL/min per 1.73 m2 , p = .001). Similarly, spot protein-creatinine ratio was significantly lower in group 1 compared to group 2 patients at 36 months (1.02 ± 7.53 vs. 3.61 ± 0.53, p < .001). Eplerenone associated hyperkalemia was not observed in group 1 patients (4.6 ± 0.2 vs. 4.56 ± 0.3, p = .713). CONCLUSION: The long-term eplerenone administration blunted the chronic allograft nephropathy by maintaining a stable eGFR levels and decreasing urine protein-creatinine ratio. Eplerenone associated hyperkalemia was not observed in our study.

Do dietary factors play a role in infantile urolithiasis?

BACKGROUND: Urolithiasis is a significant cause of morbidity that may be diagnosed at a young age. However, there is little research on the role of nutrition in pediatric urolithiasis, and research on the infantile period is extremely rare. The aim of this study is to investigate the effect of dietary factors on those diagnosed with "idiopathic" infantile urolithiasis. METHOD: The study group included 44 infants without a proven etiological factor for urolithiasis. The control group consisted of 60 fully healthy infants of matched age and gender. The parents and caregivers of each infant in the patient and control groups were carefully questioned by the same researcher for their dietary characteristics. RESULT: The duration of formula usage and daily volume of formula were statistically higher in the study group than the control group (p = 0.041 and p = 0.003, respectively). The urolithiasis group consumed significantly more cow's milk and dairy products (p = 0.033 and p = 0.001). There was no statistically meaningful difference between the two groups in terms of starting age for free water and salty food, as well as daily water intake. CONCLUSION: We concluded that dietary conditions could also be a risk factor for idiopathic urolithiasis. We believe that nutritional factors for infantile urolithiasis should be better described, in addition to genetic, anatomical, and metabolic factors. A higher resolution version of the Graphical abstract is available as Supplementary information.

Clinical Profile and Renal Ultrasound Characteristics of Children With Nutcracker Syndrome in Turkey.

OBJECTIVE: We aimed to evaluate the clinical profile and radiological findings of children with nutcracker syndrome (NCS) and to assess the association between the parameters. METHODS: A retrospective analysis of the clinical, laboratory and radiological parameters of children diagnosed with NCS between January, 2011 and October, 2017 was done. RESULTS: Of a total of 29 patients [19 girls, 65.5%] with NCS, having a mean (SD) age of 10.8 years, 72.4% had BMI <-2SD. Approximately half of the patients (51.7%) were asymptomatic. Left flank pain was commonest (9/29; 31%) symptom, followed by macroscopic hematuria (4/29; 13.8%). Isolated proteinuria was seen in 9 children. There was no significant difference between the symptomatic and asymptomatic patients in terms of Doppler ultrasonography findings. All patients were followed up conservatively, 5 received enalapril therapy for moderate proteinuria. CONCLUSION: NCS should be considered in children, especially with low BMI, presenting with orthostatic proteinuria and hematuria, with or without left flank pain after ruling out the common causes.

Severity of self-reported depressive symptomatology and relevant factors in children with primary monosymptomatic nocturnal enuresis and their mothers.

BACKGROUND: Nocturnal enuresis (NE) may negatively affect social and emotional life as well as mood in both children and their mothers. The aim of this study is to evaluate severity of self-reported depressive symptomatology and determine the relevant factors in children with primary monosymptomatic nocturnal enuresis (MNE) and their mothers by using depression inventories. METHODS: Children Depression Inventory (CDI) for children and Beck Depression Inventory (BDI) for mothers were administered to the study group. The children and mothers in the patient and control groups were compared according to the depression inventory scores. The relationship of various sociodemographic factors with those scores was also investigated. RESULTS: BDI scores of the mothers of children with primary MNE demonstrated minor depressive symptomatology and were significantly higher than the mothers in the control group (p = 0.002). Moreover, although within the normal range, CDI scores of the children with primary MNE were also significantly higher than the controls (p = 0.031). Main factors associated with BDI scores were the presence of primary MNE, maternal educational level, and CDI scores. School achievement of the children, monthly income of the family, and BDI scores were found to be correlated to the CDI scores. CONCLUSIONS: Primary MNE was found to be associated with negative mood of the mothers in the present study. As misinformed parental attitudes adversely affect family dynamics, improved awareness of, and maternal education regarding primary MNE is vital in improving the holistic outcome of families affected by MNE.

An adolescent boy progressing insidiously to end-stage renal disease: Answers.

Hinman syndrome was a non-neurogenic neurogenic bladder and the most severe form of dysfunctional voiding disorder. The bladder-sphincter discoordination causes damage to the bladder and upper urinary tract if it is not diagnosed early and treated adequately. This case emphasizes the following important message: nighttime wetting is not a benign condition in every child. Parental awareness should be raised about voiding disorders, as it may be possible to prevent important renal diseases such as Hinman syndrome.

An adolescent boy progressing insidiously to end-stage renal disease: Questions.

Hinman syndrome (HS), or non-neurogenic neurogenic bladder, is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits. The bladder-sphincter discoordination causes damage to the bladder and upper urinary tract if it is not timely diagnosed and adequately treated. This case emphasizes the following important message; nighttime wetting is not a benign condition in every child. Parental awareness should be raised about voiding disorders, so it may be possible to prevent some important renal diseases such as Hinman syndrome.

Liddle syndrome in a Turkish family with heterogeneous phenotypes.

Liddle syndrome (LS) is a familial disease characterized by early onset hypertension (HT). Although regarded as rare, its incidence may be greater than expected because the classical findings of hypokalemic metabolic alkalosis with suppressed renin and aldosterone levels are not consistently present. Herein, we present the case of an adolescent boy and maternal relatives who were followed up with misdiagnosis of essential HT for a long duration. Clinical diagnosis of LS was confirmed on genetic analysis. Despite carrying the same mutation, the index patient and the family members manifested heterogeneous phenotypes of the disease including age at presentation, degree of HT, presence of hypokalemia and renal/cardiac complications. LS should be considered in the differential diagnosis of HT in children with a strong family history of HT resistant to conventional treatment; and genetic screening should be performed in these circumstances.