Search

Copyright of Journal of Behcet Uz Children's Hospital is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background. Fatigue is a common problem in pediatric rheumatic diseases and is associated with poor quality of life. However, no validated methods are available to measure fatigue in adolescents with familial Mediterranean fever (FMF). The aim of the study was to establish validity and reliability for the child self-report PedsQL Multidimensional Fatigue Scale (PedsQL-MFS) and to investigate the effects of physical characteristics, diseaserelated characteristics, sleep quality/duration, and the amount of physical activity on fatigue in adolescents with FMF. Methods. Seventy-one adolescents with FMF (13-18 years) were included. Children were examined regarding physical- and disease-related characteristics and completed patient-reported outcome measures (PROMs) regarding sleep quality/duration, physical activity levels, and fatigue. PedsQL-MFS was re-completed within the following 7-14 days. Results. PedsQL-MFS demonstrated excellent test-retest reliability (ICC in 95% CI: 0.877-0.958) and internal consistency (Cronbach's α: 0.928). All items contributed to the total score (item-total correlation >0.3). PedsQLMFS scores were significantly correlated to fatigue (r: -0.666, p<0.001), physical activity (r: 0.373, p<0.001), sleep quality (rs: 0.678, p<0.001), and sleep duration (r: 0.473, p<0.001). Being female, having attacks in the last six months, a sleep duration of less than seven hours, and engaging in less physical activity resulted in higher fatigue. Conclusions. PedsQL-MFS seems to be feasible for assessing fatigue in adolescents with FMF. Sex, recent attacks, sleep, and physical activity should be taken into consideration in the fatigue management of patients with FMF. [ABSTRACT FROM AUTHOR]

Background. Alport syndrome (AS) is characterized by progressive kidney disease. There is increasing evidence that renin-angiotensin-aldosterone system (RAAS) inhibition delays chronic kidney disease (CKD) while the effectiveness of immunosuppressive (IS) therapy in AS is still uncertain. In this study, we aimed to analyze the outcomes of pediatric patients with X-linked AS (XLAS) who received RAAS inhibitors and IS therapy. Methods. Seventy-four children with XLAS were included in this multicenter study. Demographic features, clinical and laboratory data, treatments, histopathological examinations, and genetic analyses were analyzed retrospectively. Results. Among 74 children, 52 (70.2%) received RAAS inhibitors, 11 (14.9%) received RAAS inhibitors and IS, and 11 (14.9%) were followed up without treatment. During follow-up, glomerular filtration rate (GFR) decreased <60 ml/min/1.73 m2 in 7 (9.5%) of 74 patients (M/F=6/1). In male patients with XLAS, kidney survival was not different between RAAS and RAAS+IS groups (p=0.42). The rate of progression to CKD was significantly higher in patients with nephrotic range proteinuria and nephrotic syndrome (NS), respectively (p=0.006, p=0.05). The median age at the onset of RAAS inhibitors was significantly higher in male patients who progressed to CKD (13.9 vs 8.1 years, p=0.003). Conclusions. RAAS inhibitors have beneficial effects on proteinuria and early initiation of therapy may delay the progression to CKD in children with XLAS. There was no significant difference between the RAAS and RAAS+IS groups in kidney survival. AS patients presenting with NS or nephrotic range proteinuria should be followed up more carefully considering the risk of early progression to CKD. [ABSTRACT FROM AUTHOR]

Objective: Primary hyperoxaluria type 1 is an autosomal recessive rare disorder, caused by mutations in the alanine: glyoxylate aminotransferase (AGXT) gene. We aimed to detect the AGXT gene mutations causing primary hyperoxaluria type I in combined liver-kidney and isolated liver transplanted children with phenotypic characteristics of primary hyperoxaluria type 1. Methods: This study was carried out by including 6 Turkish children and their families followed by Dokuz Eylül. University Faculty of Medicine, Department of Pediatric Nephrology and diagnosed as primary hyperoxaluria with their phenotypic features. Clinical features, transplantation characteristics, and AGT catalytic activities of the cases were noted. The entire coding region including exon-intron boundaries of the AGXT gene was sequenced in patients and their family. Results: We detected 6 mutations primary hyperoxaluria type 1 causing and 2 minor allele polymorphism in 6 patients (5 families) The entire patients had at least one primary hyperoxaluria type 1-related mutation. Patient 1 had homozygous minor allele polymorphisms Pro11Leu in exon 1 and Ile340Met in exon 10, and mutation Met195Arg in exon 5. Patient 2 had homozygous mutation c. 33_34insC in exon 1. Patient 3 was compound heterozygous for mutations Gly170Arg in exon 4 and c.846+1G>A in intron 8 and heterozygous minor allele polymorphisms Ile340Met in exon 10. Patient 4 had homozygous mutation c.823-824dupAG in exon 8. Patient 5 and 6 had homozygous mutation c.976delG in exon 10. Conclusions: Our studies emphasize the mutation analysis of the entire coding region instead of targeted (exons 1, 4, and 7) mutation analysis of AGXT. [ABSTRACT FROM AUTHOR]

Acute focal bacterial nephritis is a localized, non liquefied bacterial inflammatory kidney mass affecting one or more lobes of the kidney. It is a midpoint between pyelonephritis and the formation of a kidney abscess. Mild encephalopathy with a reversible splenial lesion is identified by a temporary diffusion restriction in the selenium of the corpus callosum in magnetic resonance imaging. Neurological symptoms sometimes seen in mild encephalopathy with a reversible splenial lesion include changes in consciousness, behavioral changes, and seizures. Many infectious agents, particularly viruses, may be associated with the diagnosis. In recent years, the association between mild encephalopathy and a reversible splenial lesion has been described in some cases with acute focal bacterial nephritis. We present a case of a 9-year-old pediatric patient admitted to the pediatric emergency department with fever and seizures. Even though his urine sample revealed normal findings, he had higher levels of acute-phase reactants. With the aid of the computerized tomography and the magnetic resonance imaging scan, he was diagnosed with mild encephalopathy with reversible corpus callosum splenium lesion associated with acute focal bacterial nephritis. After appropriate treatment, he was discharged home successfully. As a conclusion, mild encephalopathy with reversible corpus callosum splenium lesion should be kept in mind for patients with neurological signs or symptoms accompanied by acute focal bacterial nephritis. [ABSTRACT FROM AUTHOR]

Aim: Familial Mediterranean Fever (FMF) is one of the most frequent genetic diseases with a frequency of 1/1,000 in our country. We aimed to assess awareness of FMF among caregivers of patients with and without FMF. Materials and Methods: Caregivers of FMF patients (group 1) and other caregivers who were in hospital for other reasons (group 2) were given a questionnaire regarding FMF and the results were compared between the 2 groups. Results: The mean ages were similar between group 1 (n=142) and group 2 (n=207). Female gender and lower educational status were more frequent in group 1. Group 1 was more aware that recurrent fever, joint pain, abdominal pain, and its occurrence in attacks are seen in FMF; and also that the disease is inherited rather than contagious; that a specific treatment exists; that the risk of kidney and heart failure increases when not treated; that attacks are triggered by sleeplessness, tiredness or emotional stress; that colchicine does not provide complete recovery; and that diarrhea is the most common side effect of colchicine (p<0.05). However, awareness about chest pain as a feature, infertility as a complication, non-adherence as a trigger for the disease and the statement that "patients feel healthy between attacks" were similar (p>0.05). Interestingly, group 2 was more aware that different treatment options exist (p=0.04). The total score was higher in group 1 and in participants who only graduated from secondary school or less (p<0.01). Conclusion: Being a caregiver of a patient was associated with a higher level of awareness of FMF regardless of education level, however, they still need to be informed about current developments. [ABSTRACT FROM AUTHOR]

Aim: Kidney transplantation is the most preferred long-term treatment of children with end stage renal disease since 1954. Graft dysfunction has been divided into three categories based on timing of presentation. In this article, we aim to present the etiologic factors of acute graft dysfunction in the first year of renal transplantation in children. Materials and Methods: The patients, diagnosed with acute allograft dysfunction in first year of kidney transplantation, in University of Health Sciences Turkey, Tepecik Training and Research Hospital between March 2005 and October 2017 were analyzed prospectively in this study. Results: Over the 15 year period, 56 pediatric renal allograft patients were followed in University of Health Sciences Turkey, Tepecik Training and Research Hospital. During this period, 25 patients had diagnosed with early allograft dysfunction. Five patients were admitted two times in a year with allograft dysfunction. The mean age of patients was 12.6 (4.0±21.0) years, with a male and female ratio of 17:8. Delayed graft function was occurred in four patients (16%). Among 25 renal allograft recipients showed early graft dysfunction on average of 4.2 months (1-10 months) after transplantation. The etiology of early graft dysfunction showed 10% immunologic diseases and 90% non-immunologic factors. Five patients (16.7%) diagnosed with urinary tract infection, one patient (3.3%) diagnosed with cytomegalovirus nephropathy, five patients (16.7%) diagnosed with BK nephropathy, eight patients (26.7%) diagnosed with acute cyclosporine toxicity, seven patients (23.3%) were diagnosed with dehydration and one patient (3.3%) diagnosed with urologic anomalies. Twelve patients had performed renal allograft biopsy. The histological findings were consistent with T-cell mediated rejection in two patients; B-cell mediated rejection in one patient and viral nephropathy in five patients. Non-specific histological findings were determined in five patients. Conclusion: Early recognition of the etiology of graft dysfunction that develops at 1 year and appropriate treatment will contribute to the preservation of long-term graft dysfunction. [ABSTRACT FROM AUTHOR]

Aim: Enuresis (EN) is a common problem in childhood. Family physicians have an important role in revealing children with EN. The aim of this study was to assess the knowledge and attitude of family medicine (FM) residents regarding the diagnosis and treatment of enuresis in children. Materials and Methods: Family medicine residents of the University of Health Sciences, İzmir Tepecik Training and Research Hospital were invited to complete a questionnaire concerning enuresis in children. Those who had completed their paediatrics rotation training were defined as group 1, and those who had not completed their paediatrics rotation as group 2. The responses were compared between the groups. Results: Sixty (88%) of the FM residents agreed to complete the survey. The mean age of the participants was 28.7 (25-35) years, 38 (63%) had completed their paediatrics rotation (group 1). The question about the age of night-time bedwetting was more often answered correctly in group 1 (19/38) (p=0.025). In the question on the symptoms of non-monosymptomatic enuresis; the constipation option was marked as a symptom by only 15 of the participants (25%), with 13 (87%) being in group 1 (p=0.03). The correct response rates to the questions about other symptoms of non-monosymptomatic enuresis, the causes of secondary enuresis, the need for treatment, treatment options and the follow-up of patients with enuresis were similar between groups 1 and 2. Conclusion: As a result of this study, more correct answers, which revealed adequate knowledge and experience regarding enuresis, were obtained from those who had concluded their paediatrics rotation. [ABSTRACT FROM AUTHOR]

Many new features have recently been incorporated to ÇEDD Çözüm/Child Metrics, an online and freely accessible scientific toolset. Various auxological assessments can now be made with data of children with genetic diseases (Prader Willi syndrome, Noonan syndrome, Turner syndrome, Down syndrome, and Achondroplasia) and preterm and term newborns. More detailed reports for height, weight, and body mass index data of a given child are now available. Last but not least, office and 24-hour ambulatory blood pressure values can be analyzed according to normative data. [ABSTRACT FROM AUTHOR]

Hafnia alvei is a rare bacterium that is generally reported to be an opportunistic infectious agent in adults. There are a limited number of identified pediatric cases in the literature. This article reports H. alvei as the causative agent of urinary tract infection in a healthy 8-year-old girl with no underlying disease. The patient recovered with a 10-day oral trimethoprim/sulfamethoxazole treatment. The aim of this study was to review the characteristics of this rare microorganism, as a causative agent of urinary tract infection, for clinicians. [ABSTRACT FROM AUTHOR]

Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5-10 times the rate in the general population, and both anatomic and metabolic abnormalities play role in the formation of renal stones. However, nephrolithiasis is rare in childhood age group. In this paper, an 11-year-old child with autosomal dominant polycystic kidney disease presenting with nephrolithiasis is discussed. [ABSTRACT FROM AUTHOR]