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Takayasu arteritis (TA) is a large vessel vasculitis that usually affects young female patients during the second and third decades of life, but has been reported in children as young as 24 months of age. Aim of this report was to... more
Takayasu arteritis (TA) is a large vessel vasculitis that usually affects young female patients during the second and third decades of life, but has been reported in children as young as 24 months of age. Aim of this report was to describe four children (two girls) with TA, as well as summarizing main published studies. The mean age at presentation of our cases was 11 years (range 8–15). Three patients were Caucasians and one Asian. Arterial hypertension was the commonest mode of presentation followed by systemic symptoms. Other related symptoms were due to ischemia and consisted of abdomen, chest, and limb pain. An abdominal bruit was noted in only one patient. Inflammation markers were always abnormal. Angiography was performed in all cases; left subclavian artery and common carotid artery were more frequently involved. Renal artery stenosis was observed in two patients. One boy was diagnosed as having an associated immune deficiency (Wiskott-Aldrich syndrome). Treatment modalitie...
Research Interests: Immunology, Adolescent, Arterial hypertension, Medicine, Humans, and 15 moreChild, Female, Male, Clinical Sciences, Angioplasty, Angiography, Prognosis, Pediatric Rheumatology, Renal Artery, Aorta, Mycophenolate mofetil, Arteritis, Carotid Arteries, Adrenal cortex hormones, and Paediatrics and reproductive medicine
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... more
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.
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Abdominal pain during peritoneal dialysis can be due to an inflow pain or most frequently be associated with peritonitis. However, other unusual pathologies can also occur in patients with peritoneal dialysis. Herein, pelvic inflammatory... more
Abdominal pain during peritoneal dialysis can be due to an inflow pain or most frequently be associated with peritonitis. However, other unusual pathologies can also occur in patients with peritoneal dialysis. Herein, pelvic inflammatory disease in a pediatric peritoneal dialysis patient is presented. After exclusion of the most common causes, abdominal ultrasonography and laparoscopy will guide clinicians for the diagnosis of the other rare diseases in patients with peritoneal dialysis.
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Several sets of criteria mainly for adults have been proposed for the diagnosis of FMF. The aim of the present study is to validate the most widely used diagnostic 'Tel Hashomer' criteria in children and to establish a new set of... more
Several sets of criteria mainly for adults have been proposed for the diagnosis of FMF. The aim of the present study is to validate the most widely used diagnostic 'Tel Hashomer' criteria in children and to establish a new set of criteria for use in childhood. The study group consisted of 170 recently diagnosed FMF patients who had mutations at both alleles. They were interviewed about the presence of 35 features and manifestations of FMF at the time of diagnosis. Controls were consecutive patients without FMF (n = 141) who had episodes of fever and clinical features mimicking that of FMF. The diagnostic performance of the candidate features was assessed by multiple logistic regression analysis. The sensitivity and specificity of Tel Hashomer criteria in our study group were 98.8 and 54.6%, respectively. The multiple logistic regression analysis showed that 5 (fever, abdominal pain, chest pain, arthritis and family history of FMF) of the 35 candidate criteria discriminate FM...
Research Interests: Rheumatology, Immunology, Humans, Child, Female, and 14 moreMale, Differential Diagnosis, Risk factors, Clinical Sciences, Public health systems and services research, Consanguinity, Risk Factors, Sensitivity and Specificity, Logistic Models, Age of Onset, Familial Mediterranean Fever, Case Control Studies, Child preschool, and health status indicators
The purpose of our study was to evaluate and analyse the prevalence and association of acute kidney injury (AKI) as defined by paediatric Risk, Injury, Failure, Loss of kidney function and End-stage kidney disease (pRIFLE) and Acute... more
The purpose of our study was to evaluate and analyse the prevalence and association of acute kidney injury (AKI) as defined by paediatric Risk, Injury, Failure, Loss of kidney function and End-stage kidney disease (pRIFLE) and Acute Kidney Injury Network (AKIN) classifications in a paediatric intensive care unit (PICU). A prospective analysis of all patients that were admitted to our PICU between June 2009 and December 2010 was performed. Patients were classified according to AKIN and pRIFLE criteria. One hundred and eighty-nine patients (mean age 45.9 ± 54.7 months; 110 male, 79 female) were enrolled. Sixty-three (33.3%) patients developed AKI by AKIN criteria and 68 (35.9%) patients developed AKI by pRIFLE criteria. All patients that had AKI according to AKIN criteria also had this diagnosis with pRIFLE criteria. Five patients had developed AKI only according to pRIFLE classification, four of them owing to reduction in their estimated creatinine clearance and one of them owing to changes over 1-week period. The mean length of PICU stay was longer, need for mechanical ventilation and mortality rates were higher in patients with AKI when compared to patients without AKI. Although both pRIFLE and AKIN criteria were very helpful in the detection of patients with AKI even in the early stages of it, pRIFLE seems to be more sensitive in paediatric patients.
Research Interests: Acute kidney injury, Adolescent, Prospective studies, Humans, Child, and 15 moreFemale, Male, Young Adult, Infant, Incidence, Length of Stay, Prevalence, Criteria, Paediatric, ACTA, Sensitivity and Specificity, Child preschool, health status indicators, Paediatrics and reproductive medicine, and Kidney function tests
Wilson's disease is an autosomal recessive disorder of hepatobiliary copper metabolism. Glomerular diseases can ensue during the course of Wilson's disease and membranous nephropathy is the eventual pathology in the majority of... more
Wilson's disease is an autosomal recessive disorder of hepatobiliary copper metabolism. Glomerular diseases can ensue during the course of Wilson's disease and membranous nephropathy is the eventual pathology in the majority of these cases. Membranoproliferative glomerulonephritis (MPGN) has rarely been reported in patients with Wilson's disease. Further, in this report, we present a patient with Wilson's disease who had developed MPGN during follow-up due to D-penicillamine therapy. This case is presented to draw attention to the rare association of Wilson's disease and MPGN and to discuss the possible underlying causes.
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Mutations in the NPHS2 gene are a frequent cause of familial and sporadic steroid-resistant nephrotic syndrome (SRNS). Inter-ethnic differences have also been suggested to affect the incidence of these mutations. The frequency and... more
Mutations in the NPHS2 gene are a frequent cause of familial and sporadic steroid-resistant nephrotic syndrome (SRNS). Inter-ethnic differences have also been suggested to affect the incidence of these mutations. The frequency and spectrum of podocin mutations in the Turkish population have remained largely unknown. As such, the aim of this study was to screen for podocin mutations in Turkish patients with SRNS. Thirty two patients from 30 unrelated families with SRNS were examined. There were seven familial cases from five different families and 25 sporadic cases. PCR-single-strand conformation polymorphism (SSCP) analysis of the NPHS2 gene was followed by direct sequencing. Five different NPHS2 mutations were detected in four of the 30 (13.3%) families studied; five familial patients from three unrelated families (60%) and one sporadic case (4%) were found to carry podocin mutations. The detected mutations included homozygous c. 419delG, compound heterozygous p. [Arg238Ser] + [Pro...
Research Interests: Turkey, Membrane Proteins, Adolescent, Humans, Child, and 15 moreMutation, Female, Drug Resistance, Male, Infant, Pediatric Nephrology, Pediatric, Steroid Resistant Nephrotic Syndrome, Spectrum, Family Study, Ethnic Difference, Nephrotic syndrome, Child preschool, Direct sequence, and Paediatrics and reproductive medicine
To retrospectively evaluate the clinical features, angiographic findings, and outcomes of children with Takayasu arteritis (TA) in Turkey. Clinical, laboratory, and angiographic findings and outcomes of 19 children with TA were evaluated... more
To retrospectively evaluate the clinical features, angiographic findings, and outcomes of children with Takayasu arteritis (TA) in Turkey. Clinical, laboratory, and angiographic findings and outcomes of 19 children with TA were evaluated with a retrospective chart review. The criteria for inclusion were those proposed by the American College of Rheumatology. Mean followup period was 35.89 +/- 40.75 months (range 1-168, median 30). There were 14 girls and 5 boys. The mean age at diagnosis was 12.84 +/- 2.69 years (range 8-17, median 13). The most common complaints on admission were headache (84%), abdominal pain (37%), claudication of extremities (32%), fever (26%), and weight loss (10%). One patient presented with visual loss. Examination on admission revealed hypertension (89%), absent pulses (58%), and bruits (42%). Angiography revealed type I in 13 patients (aortic arch, descending thoracic, and abdominal aorta), type II in 4 (descending thoracic aorta and abdominal aorta), and t...
Research Interests: Immunology, Turkey, Treatment Outcome, Adolescent, Humans, and 15 moreChild, Female, Male, The, Clinical Sciences, Angioplasty, Angiography, Retrospective Studies, Prognosis, Pediatric Rheumatology, Renal Artery, Aorta, Carotid Arteries, Adrenal cortex hormones, and Paediatrics and reproductive medicine
To retrospectively evaluate the clinical features, angiographic findings, and outcomes of children with Takayasu arteritis (TA) in Turkey. Clinical, laboratory, and angiographic findings and outcomes of 19 children with TA were evaluated... more
To retrospectively evaluate the clinical features, angiographic findings, and outcomes of children with Takayasu arteritis (TA) in Turkey. Clinical, laboratory, and angiographic findings and outcomes of 19 children with TA were evaluated with a retrospective chart review. The criteria for inclusion were those proposed by the American College of Rheumatology. Mean followup period was 35.89 +/- 40.75 months (range 1-168, median 30). There were 14 girls and 5 boys. The mean age at diagnosis was 12.84 +/- 2.69 years (range 8-17, median 13). The most common complaints on admission were headache (84%), abdominal pain (37%), claudication of extremities (32%), fever (26%), and weight loss (10%). One patient presented with visual loss. Examination on admission revealed hypertension (89%), absent pulses (58%), and bruits (42%). Angiography revealed type I in 13 patients (aortic arch, descending thoracic, and abdominal aorta), type II in 4 (descending thoracic aorta and abdominal aorta), and t...
Research Interests: Immunology, Turkey, Treatment Outcome, Adolescent, Humans, and 15 moreChild, Female, Male, The, Clinical Sciences, Angioplasty, Angiography, Retrospective Studies, Prognosis, Pediatric Rheumatology, Renal Artery, Aorta, Carotid Arteries, Adrenal cortex hormones, and Paediatrics and reproductive medicine
Pleural or pericardial effusions secondary to pleuro-peritoneal fistula (PPF) and pericardio-peritoneal fistula (PcPF) are rare but serious complications of peritoneal dialysis (PD). We conducted a 10-year survey across all participating... more
Pleural or pericardial effusions secondary to pleuro-peritoneal fistula (PPF) and pericardio-peritoneal fistula (PcPF) are rare but serious complications of peritoneal dialysis (PD). We conducted a 10-year survey across all participating centres in the European Paediatric Dialysis Working Group to review the incidence, diagnostic techniques, therapeutic options and outcome of children on chronic PD with PPF and/or PcPF. Of 1506 children on PD there were ten cases (8 of PPF, 1 each of PcPF and PPF + PcPF), with a prevalence of 0.66 %. The median age at presentation was 1.5 [inter-quartile range (IQR) 0.4-2.4] years, and nine children were <3 years. The time on PD before onset of symptoms was 4.3 (IQR 1.3-19.8) months. Eight children had herniae and seven had abdominal surgery in the preceding 4 weeks. Symptoms at presentation were respiratory distress, reduced ultrafiltration and tachycardia. PD was stopped in all children; three were managed conservatively and thoracocentesis was...
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The clinical course of focal segmental glomerulosclerosis (FSGS) is heterogeneous in children. To evaluate the clinical course and the predictors of outcome in Turkish children with primary FSGS, a retrospective study was conducted by the... more
The clinical course of focal segmental glomerulosclerosis (FSGS) is heterogeneous in children. To evaluate the clinical course and the predictors of outcome in Turkish children with primary FSGS, a retrospective study was conducted by the Turkish Pediatric Nephrology ...
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Data on the immunization practices in pediatric chronic kidney disease (CKD) patients are scarce. The purpose of this study was to evaluate current vaccination practices for children on dialysis across European pediatric nephrology... more
Data on the immunization practices in pediatric chronic kidney disease (CKD) patients are scarce. The purpose of this study was to evaluate current vaccination practices for children on dialysis across European pediatric nephrology centers. A total of 18 tertiary pediatric nephrology centers from 12 European countries were included in the study. The data on universal national immunization programs and immunization practices for children with chronic disease or risk were recorded from European Center for Disease Prevention and Control and the World Health Organization. The immunization practices and center protocols for monitoring antibody titers after vaccination in dialysis patients were obtained through a questionnaire. All centers included in the study recommended immunization against hepatitis B virus (HBV), diphtheria, tetanus, pertussis, Hemophilus influenzae type b (Hib), poliomyelitis, measles, mumps, rubella (MMR), and streptococcus pneumonia in dialysis patients. In 16 cen...
Management of children with congenital nephrotic syndrome (CNS) is challenging. Bilateral nephrectomies followed by dialysis and transplantation are practiced in most centres, but conservative treatment may also be effective. We conducted... more
Management of children with congenital nephrotic syndrome (CNS) is challenging. Bilateral nephrectomies followed by dialysis and transplantation are practiced in most centres, but conservative treatment may also be effective. We conducted a 6-year review across members of the European Society for Paediatric Nephrology Dialysis Working Group to compare management strategies and their outcomes in children with CNS. Eighty children (50% male) across 17 tertiary nephrology units in Europe were included (mutations in NPHS1, n = 55; NPHS2, n = 1; WT1, n = 9; others, n = 15). Excluding patients with mutations in WT1, antiproteinuric treatment was given in 42 (59%) with an increase in S-albumin in 70% by median 6 (interquartile range: 3-8) g/L (P < 0.001). Following unilateral nephrectomy, S-albumin increased by 4 (1-8) g/L (P = 0.03) with a reduction in albumin infusion dose by 5 (2-9) g/kg/week (P = 0.02). Median age at bilateral nephrectomies (n = 29) was 9 (7-16) months. Outcomes wer...
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Children with congenital nephrotic syndrome (CNS) commonly develop end stage renal failure in infancy and require dialysis, but little is known about the complications and outcomes of dialysis in these children. We conducted a... more
Children with congenital nephrotic syndrome (CNS) commonly develop end stage renal failure in infancy and require dialysis, but little is known about the complications and outcomes of dialysis in these children. We conducted a retrospective case note review across members of the European Society for Pediatric Nephrology Dialysis Working Group to evaluate dialysis management, complications of dialysis, and outcomes in children with CNS. Eighty children (50% male) with CNS were identified form 17 centers over a 6-year period. Chronic dialysis was started in 44 (55%) children at a median age of 8 (interquartile range 4-14) months. Of these, 17 (39%) were on dialysis by the age of 6 months, 30 (68%) by 1 year, and 40 (91%) by 2 years. Peritoneal dialysis (PD) was the modality of choice in 93%, but 34% switched to hemodialysis (HD), largely due to catheter malfunction (n = 5) or peritonitis (n = 4). The peritonitis rate was 0.77 per patient-year. Weight and height SDS remained static aft...
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Acute kidney injury (AKI) is associated with an increased risk of mortality especially in pediatric intensive care units. The aim of this study is to determine the risk factors of AKI in children undergoing cardiac surgery for congenital... more
Acute kidney injury (AKI) is associated with an increased risk of mortality especially in pediatric intensive care units. The aim of this study is to determine the risk factors of AKI in children undergoing cardiac surgery for congenital heart disease and compare two different classification systems: pRIFLE and AKIN. We retrospectively analyzed 145 patient undergoing pediatric congenital heart surgery who were between 1 month and 18 years and treated by the cardiovascular surgery department from January 2009 to October 2011. One hundred and thirty-seven patients (mean age 36.6 ± 43.3 months) were enrolled: 84 (61.3%) patients developed AKI by pRIFLE criteria (25.5% Risk, 20.4% "Injury", 15.3% "Failure"); 65 (47.4%) of patients developed AKI according to the AKIN criteria (15.3% stage I, 18.2% stage II, and 13.9% stage III). Children younger than 11 months were more likely to develop AKI (p<0.005). Longer cardiopulmonary bypass time was associated with an incre...
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... Ann Intern Med 75:725729 4. Conn JW, Cohen EL, Lucas CP, McDonald WJ, Mayor GH, Blough WM Jr, Eveland WC, Bookstein JJ, Lapides J (1972) Primary ... Am J Kidney Dis 54:A41A44 8. Shao L, Manalang M, Cooley L (2008) Juxtaglomerular... more
... Ann Intern Med 75:725729 4. Conn JW, Cohen EL, Lucas CP, McDonald WJ, Mayor GH, Blough WM Jr, Eveland WC, Bookstein JJ, Lapides J (1972) Primary ... Am J Kidney Dis 54:A41A44 8. Shao L, Manalang M, Cooley L (2008) Juxtaglomerular cell tumor in an 8-year-old girl ...
Research Interests: Treatment Outcome, Ultrasound, Adolescent, Humans, Hypertension, and 15 moreDoppler Ultrasound, Dynamic contrast enhanced MRI, Male, Potassium, Pediatric Nephrology, Pediatric, Hypokalemia, Congenital Adrenal Hyperplasia, Combination drug therapy, Aortic Coarctation, Nephrectomy, Magnetic resonance image, Severity of Illness Index, Antihypertensive agents, and Paediatrics and reproductive medicine
ABSTRACT KeywordsChild-Familial hypomagnesemia with hypercalciuria-Medullary nephrocalcinosis-Nephrocalcinosis
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Turk J Med Sci 2008; 38 (5): 383-386 © TÜBİTAK E-mail: medsci@tubitak.gov.tr ... Neural Tube Defects and 19 bp Deletion Within Intron-1 of Dihydrofolate Reductase Gene ... Aims: Dihydrofolate reductase (DHFR) is necessary for the... more
Turk J Med Sci 2008; 38 (5): 383-386 © TÜBİTAK E-mail: medsci@tubitak.gov.tr ... Neural Tube Defects and 19 bp Deletion Within Intron-1 of Dihydrofolate Reductase Gene ... Aims: Dihydrofolate reductase (DHFR) is necessary for the reduction of the ingested folates before they are ...
Dear Sir, Berger&amp;amp;#x27;s disease (BD) is known as &amp;amp;#x27;Henoch-Schönlein purpura (HSP) without the rash&amp;amp;#x27;and these two diseases are considered as the clinical variants of the same entity with common... more
Dear Sir, Berger&amp;amp;#x27;s disease (BD) is known as &amp;amp;#x27;Henoch-Schönlein purpura (HSP) without the rash&amp;amp;#x27;and these two diseases are considered as the clinical variants of the same entity with common pathogenetic mechanisms [1, 2]. It is widely accepted that typical clinical features ...
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The purpose of this study was to evaluate the pathophysiologic characteristics of nutcracker syndrome (NS) and to assess the role of upright position imaging and superior mesenteric artery (SMA) angle measurement in the diagnosis. Doppler... more
The purpose of this study was to evaluate the pathophysiologic characteristics of nutcracker syndrome (NS) and to assess the role of upright position imaging and superior mesenteric artery (SMA) angle measurement in the diagnosis. Doppler sonographic findings in 23 children with NS and in 26 healthy control subjects were compared. The mesenteric angle, peak velocity (PV), and anteroposterior diameter of the left renal vein (LRV) at the hilar and aortomesenteric portions were measured in both the supine and upright positions. The means +/- SD of the SMA angle, anteroposterior diameter, and PV ratio between the two portions were calculated, and cutoff levels for the diagnosis of NS were established. The diameter and PV ratios were significantly different between the patient and control groups in both the supine and upright positions (P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; .001). Differences between the supine and upright positions were also significant for the diameter of the LRV at the aortomesenteric portion, diameter ratio, and SMA angle in both groups. Upright position imaging revealed comparatively narrower SMA angles and more pronounced entrapment findings in patients with NS. The SMA angle measurement had sensitivity and specificity of 69.6% and 61.5%, respectively, in the supine position and 87.0% and 76.9% in the upright position when the cutoff values were set to less than 41 degrees and 21 degrees , respectively. The upright position has significant effects on the LRV hemodynamics and angle of the SMA in both patients and healthy subjects. Superior mesenteric artery angle measurement may be a useful adjunct parameter in the diagnosis of NS.
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ABSTRACT KeywordsChild-Familial hypomagnesemia with hypercalciuria-Medullary nephrocalcinosis-Nephrocalcinosis
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Hemodialysis (HD) in children with a concomitant ventriculoperitoneal shunt (VPS) is rare. Registry data suggest that peritoneal dialysis with a VPS is safe, but little is known about HD in the presence of a VPS. We performed a 10-year... more
Hemodialysis (HD) in children with a concomitant ventriculoperitoneal shunt (VPS) is rare. Registry data suggest that peritoneal dialysis with a VPS is safe, but little is known about HD in the presence of a VPS. We performed a 10-year survey to determine the prevalence of a VPS, complications and outcome in children with a VPS on HD in 15 dialysis units from the 13 countries participating in the European Pediatric Dialysis Working Group. Eleven cases of HD with a VPS were reported (prevalence 1.33 %; 328 patient-months) and compared with prospective Registry data. The median age at start of dialysis was 9.6 [inter-quartile range (IQR) 1.0-15.0] years and median HD vintage was 2.4 (IQR 1.7-3.0) years. Dialysis was performed through a central venous line (CVL) and through an arteriovenous fistula in six and five children, respectively. Three CVL infections occurred in two children, but these children did not develop VPS infections or meningitis. Symptoms of hemodynamic instability we...
Research Interests: Kidney transplantation, Risk assessment, Adolescent, Humans, Child, and 15 moreHypertension, Europe, Female, Male, Infant, Pediatric Nephrology, Retrospective Studies, Age Factors, Hypotension, Risk Assessment, Central Venous Catheters, Renal Dialysis, Child preschool, Health Care Surveys, and Paediatrics and reproductive medicine
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Urofacial syndrome (UFS) is characterised by congenital bladder dysfunction accompanied by a characteristic abnormal grimace upon smiling and crying. In recent years, biallelic mutations of HPSE2 and LRIG2 have been reported in UFS... more
Urofacial syndrome (UFS) is characterised by congenital bladder dysfunction accompanied by a characteristic abnormal grimace upon smiling and crying. In recent years, biallelic mutations of HPSE2 and LRIG2 have been reported in UFS patients. Non-neurogenic neurogenic bladder (NNNB) has a bladder identical to UFS without typical facial features. The aim of this study was to analyse HPSE2 mutations in patients with UFS and NNNB or severe lower urinary tract dysfunction (LUTD) without abnormal facial expression. Patients with UFS, NNNB and severe LUTD were enrolled in the study. We examined a total of 35 patients from 33 families. There were seven UFS patients from five different families, 21 patients with NNNB and seven with LUTD. HPSE2 gene mutation analysis was performed using the polymerase chain reaction protocol followed by Sanger sequencing in these patients. A twin pair with UFS was found to be homozygous for c.457C&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.Arg153*) mutation. No other pathogenetic variant was detected. HPSE2 mutations were found in one UFS family but not detected in patients with NNNB and severe LUTD. Considering the increasingly recognised cases of NNNB that were diagnosed in early childhood period, genetic factors appear to be responsible. Thus, further genetic studies are needed to discover novel associated gene variants in these bladder anomalies. © 2015 S. Karger AG, Basel.
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The adverse effects of peritonitis and of the duration of dialysis on dialysis adequacy and clinical outcome were evaluated in this study. The study comprised 24 chronic peritoneal dialysis patients who were followed up at least for 12... more
The adverse effects of peritonitis and of the duration of dialysis on dialysis adequacy and clinical outcome were evaluated in this study. The study comprised 24 chronic peritoneal dialysis patients who were followed up at least for 12 months. Casual blood pressure (BP) measurements, echocardiographic evaluation, peritonitis rate, hemoglobin (Hb), serum albumin, normalized protein catabolic rate (nPCR), total Kt/Vurea, weekly creatinine clearance (CCr), residual renal function (RRF), removal of fluid and dose of recombinant human erythropoietin (EPO) were evaluated. Mean age of the patients was 15.3 +/- 3.6 years. Mean follow-up was 50.4 +/- 26.8 months. Peritonitis rate was calculated as 1 episode/32.7 patient-months. Systolic hypertension was detected in 14 patients (58%) and diastolic hypertension in 15 (63%). RRF showed a negative correlation with duration on dialysis (r=-0.623, p=0.006). There was no significant correlation between RRF and nPCR, Hb, hematocrit, albumin and dose...
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Systemic lupus erythematosus (SLE) is a chronic systemic disease, which can involve multiple organs such as kidney, skin and brain. Lung is another organ that can be affected. A number of pulmonary complications including pleuritis,... more
Systemic lupus erythematosus (SLE) is a chronic systemic disease, which can involve multiple organs such as kidney, skin and brain. Lung is another organ that can be affected. A number of pulmonary complications including pleuritis, pneumonitis, infectious pneumonia, pulmonary haemorrhage, pulmonary hypertension and pneumothorax have been reported in patients with SLE. Pulmonary involvement is relatively frequent in adult patients; it has infrequently been reported in children with SLE. However, pulmonary manifestations may be an initial and/or life-threatening complication of SLE in children. In this paper we aim to emphasize the pulmonary involvement in childhood-onset SLE via description of our patients. The patients, who were diagnosed with SLE at the Children's Hospital of Ankara University Medical School between 1993 and 2002, were retrospectively evaluated for evidence of pulmonary involvement. All patients fulfilled at least four of the classification criteria of the Ame...
Research Interests: Rheumatology, Immunology, Informed Consent, Adolescent, Humans, and 11 moreChild, Systemic Lupus Erythematosus, Female, Cytomegalovirus, Lung Diseases, Clinical Sciences, Public health systems and services research, Retrospective Studies, X ray Computed Tomography, Age of Onset, and Invasive aspergillosis
The aim of this study was to investigate the nutritional status of children on continuous ambulatory peritoneal dialysis (CAPD) and to relate it to the dose of dialysis and serum levels of inflammatory cytokines and insulin-like growth... more
The aim of this study was to investigate the nutritional status of children on continuous ambulatory peritoneal dialysis (CAPD) and to relate it to the dose of dialysis and serum levels of inflammatory cytokines and insulin-like growth factor-1 (IGF-1). 17 CAPD patients (8 girls, 9 boys; mean age 13.1 +/- 3.5 years, median 15 years) were included in the study. Anthropometric measurements and serum albumin levels were used in the evaluation of nutritional status. Serum interleukin (IL)-1beta, IL-6, tumor necrosis factor alpha, and IGF-1 levels were determined in all CAPD patients and in a healthy control group. Weekly Kt/V and creatinine clearance (CCr) were measured to determine adequacy of dialysis. The mean dialysis period was 23.7 +/- 15.2 months (median 23 months). Anthropometric measurements and serum albumin level were as follows: height 130.2 +/- 15.6 cm, height standard deviation score (HtSDS) -4.2 +/- 2.4, body mass index (BMI) 16.3 +/- 1.6 kg/m2, body mass index standard d...
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Previous studies suggest that 6-46% of children suffer from lower urinary tract dysfunction (LUTD). This study evaluated the prevalence of LUTD in children with a urinary tract infection (UTI) and assessed the impact of standard... more
Previous studies suggest that 6-46% of children suffer from lower urinary tract dysfunction (LUTD). This study evaluated the prevalence of LUTD in children with a urinary tract infection (UTI) and assessed the impact of standard urotherapy on patients with LUTD. We enrolled 228 patients who were 4 years of age or older with at least one episode of UTI, together with a control group of 100 children. All the children were evaluated using the Pediatric Lower Urinary Tract Symptom Score (PLUTSS), and the intervention group were re-assessed after therapy to gauge their response. Lower urinary tract dysfunction was detected in 134 (59%) patients. Their mean PLUTSS was 15.9 ± 5.3, and 78% of these patients had a reduced quality of life (QOL). After 5 ± 2.7 months of behavioural therapy, 105 (78%) patients with LUTD were evaluated for the second time. This showed that LUTD was ameliorated in 69% of the patients and improved in 26%, with a mean post-treatment PLUTSS of 6.6 ± 5.6. Two control group children had LUTD. Lower urinary tract dysfunction was frequently seen in patients with UTIs, but standard urotherapy was usually successful. Most of the patients in our study with LUTD also had an impaired QOL.
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Colchicine is the standard treatment in familial Mediterranean fever (FMF) patients. New treatment strategies are needed in FMF patients who were unresponsive to colchicine therapy or who had developed amyloidosis. The aim of this study... more
Colchicine is the standard treatment in familial Mediterranean fever (FMF) patients. New treatment strategies are needed in FMF patients who were unresponsive to colchicine therapy or who had developed amyloidosis. The aim of this study was to present clinical-laboratory features and treatment responses of pediatric FMF patients that were treated with anti-IL-1 therapies. Files of patients who had been followed in our department with diagnosis of FMF were retrospectively evaluated. Patients that have been receiving anti-IL-1 therapies (anakinra or canakinumab) were included to the study. All patients were interpreted with respect to the demographic data, clinical and laboratory features of the disease, genetic analysis of MEFV mutations and treatment responses. Among 330 currently registered FMF patients, 13 patients were included to the study. Seven of them received anti-IL-1 therapy due to colchicine resistance and 6 due to FMF-related amyloidosis (1 of them with nephrotic syndrome, 2 with chronic kidney disease, 3 with renal transplantation). In all treated patients, attacks completely disappeared or decreased in frequency; partial remission occured in nephrotic syndrome patient; and their life quality improved. Anti-IL-1 therapies can be successfully used in colchicine-resistant FMF patients and patients with amyloidosis during childhood and adolescent period without major side effects.
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Hypoxic-ischemic cerebral injury that occurs during the perinatal period is one of the most commonly recognized cause of long-term neurological deficit in children, often referred to as cerebral palsy. We describe a case with capillary... more
Hypoxic-ischemic cerebral injury that occurs during the perinatal period is one of the most commonly recognized cause of long-term neurological deficit in children, often referred to as cerebral palsy. We describe a case with capillary leak syndrome and seizures to co-morbid status epilepticus related to perinatal hypoxic-ischemic encephalopathy in newborn period.