Berfin Uysal - Academia.edu (original) (raw)

Papers by Berfin Uysal

Pediatrics International, 2015

Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait... more Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years.

Turkish Journal of Pediatrics, 2022

Background. Amyloidosis is a group of disorders with extracellular accumulation of autologous fib... more Background. Amyloidosis is a group of disorders with extracellular accumulation of autologous fibrillary insoluble proteins in various tissues and organs such as the kidneys, liver, spleen, heart and gastrointestinal tract leading to impairment of normal organ function. Childhood amyloidosis is an exceedingly rare entity mainly caused by familial Mediterranean fever (FMF) and the other autoinflammatory diseases such as mevalonate kinase deficiency (MKD). Case. A 16-year-old male was referred to pediatric nephrology for coincidentally discovered proteinuria. He had no significant findings on physical examination except for urochromic color. He had nephrotic range proteinuria with 109 mg/m2/h and serum creatinine was 1.35 mg/dl. Kidney biopsy was performed because of nephrotic range proteinuria with acute kidney injury. In hematoxylin-eosin-stained tissue sections, amyloid was suggested as extracellular amorphous material that is lightly eosinophilic in the glomeruli. Diagnosis was confirmed by Congo red positivity, with apple-green birefringence under polarized light. MEFV gene mutation was negative and a compound heterozygote mutation found in mevalonate kinase gene. A 6-monthtrial of colchicine, enalapril, and losartan combination was not successful; Canakinumab was started thereafter. Proteinuria and creatinine decreased to 7 mg/m2/h and 0.6 mg/dl respectively 4 years after treatment. Conclusions. Amyloidosis should be considered especially in children presenting with proteinuria and with a history of recurrent fever. This report also emphasizes the efficacy of canakinumab to prevent or decelerate chronic renal failure in these patients although it does not reduce tissue deposition in long-term use.

Turkish Journal of Thoracic and Cardiovascular Surgery

Background: The aim of this study was to evaluate the efficacy and feasibility of a novel method ... more Background: The aim of this study was to evaluate the efficacy and feasibility of a novel method of narrowing pulmonary arteries with catheter angiography using radiofrequency energy in rabbits. Methods: A total of nine New Zealand white rabbits weighing 3.0 to 4.2 kg each were utilized in this experimental study. After the location of pulmonary artery was confirmed by echocardiography and angiography, radiofrequency energy was applied by starting with 5 W energy for the first time and increasing by 5 W, if there was no rupture to a maximum of 20 W. Multiple applications of radiofrequency energy with different durations were performed at different levels of the pulmonary artery. Eight weeks later, surviving rabbits were sacrificed. The pulmonary arteries were removed for histological investigation. Results: Five rabbits remained alive after the experiment. There was a significant correlation between radiofrequency power and the degree of vessel thickness change in the pulmonary arte...

Çocukluk çağında hipertansiyon, erişkinlerde olduğu gibi önemli bir morbidite ve mortalite nedeni... more Çocukluk çağında hipertansiyon, erişkinlerde olduğu gibi önemli bir morbidite ve mortalite nedenidir. Bu çalışmada, 1 Ocak 2012 ile 31 Aralık 2013 tarihleri arasında Uludağ Üniversitesi Çocuk Nefroloji Polikliniği'ne başvuran, hipertansiyon tanısı alan ve düzenli takip edilen hastaların demografik özellikleri, hedef organ hasarları, aldıkları tedaviler ve tedaviye yanıtları geriye dönük olarak değerlendirildi ve hipertansiyon etyolojisi araştırıldı. Çalışmaya dahil edilen 231 hastanın ortalama yaşı 14.4±4.5, ortalama tanı yaşı 11.4±4.7 olarak belirlendi. Hastaların %50.6'sı (n=117) primer hipertansiyon, %49.4'ü (n=114) sekonder hipertansiyon tanısı aldı. Primer hipertansiyonlu hastaların 20'sinde aile öyküsü varken, sekonder hipertansiyonlu hastaların sadece 7'sinde aile öyküsü mevcuttu, aradaki fark anlamlı bulundu (p=0.01). Yirmi dört hasta fazla kilolu, 36 hasta obez olarak değerlendirildi. Hastaların %8.7'sinde diyabet, %7.4'ünde kronik böbrek hastalı...

Urolithiasis

We evaluated the demographic features, etiologic risk factors, treatment strategies, and outcome ... more We evaluated the demographic features, etiologic risk factors, treatment strategies, and outcome of the infants and children with urolithiasis (UL). A retrospective multicenter study was conducted including 23 Pediatric Nephrology centers in Turkey. The medical records of 2513 children with UL were reviewed. One thousand, three hundred and four boys and 1209 girls (1.1:1) were reported. The mean age at diagnosis was 39.5 ± 35 months (0.4–231 months), and 1262 patients (50.2%) were in the first year of life (infants). Most of the cases with infantile UL were diagnosed incidentally. Microlithiasis (< 3 mm) was found in 794 patients (31.6%), and 64.5% of the patients with microlithiasis were infants. Stones were located in the pelvis-calyces in 63.2% (n: 1530) of the cases. The most common stone type was calcium oxalate (64.6%). Hypocitraturia was the most common metabolic risk factor (MRF) in children older than 12 months, but in infancy, hypercalciuria was more common. Fifty-five percent of the patients had received at least one medical treatment, mostly potassium citrate. At the end of a year’s follow-up, most of the patients with microlithiasis (85%) showed spontaneous remission. The rate of spontaneous stone resolution in infants was higher than in children. Spontaneous remission rate was higher in cases with MRF ( − ) stones than in MRF ( +) stones. However, remission rate with medical treatment was higher in cases with MRF ( +) stones. This study represents the results of a large series of infants and children with UL and showed that there are several differences such as underlying metabolic and anatomic abnormalities, clinical course, and stone remission rates between infants and children with urinary stone disease.

Clinical Pediatrics

Coronavirus disease 2019 (COVID-19) is the greatest pandemic in a century. In this study, childre... more Coronavirus disease 2019 (COVID-19) is the greatest pandemic in a century. In this study, children with mild COVID-19 infections were evaluated at least 8 weeks after the polymerase chain reaction (PCR) test positivity, and the frequency of hypertension (HT) in these children was investigated. These results were compared to those of the control group, which consisted of 32 healthy children in the same age range as the trial group but who did not have COVID-19. This prospective multicenter study was conducted including children aged 10 to 18 years. There were 16 patients (16%) who had elevated systolic blood pressure, while 11 patients (11%) had stage-1 HT and 1 patient (1%) had stage-2 HT. It was revealed that children with COVID-19 had significantly higher systolic and diastolic blood pressures than normal healthy children. The findings of this study contribute toward increasing the understanding of the sequelae of mild COVID-19 in pediatric patients.

Pamukkale Medical Journal, 2021

Makale bilim dalı: Çocuk Nefroloji Başlık: Çocuklarda böbrekte basit kist Short title: Çocuklarda... more Makale bilim dalı: Çocuk Nefroloji Başlık: Çocuklarda böbrekte basit kist Short title: Çocuklarda böbrekte basit kist Öz Amaç: Erişkinlerde sık görülen ve ilerleyen yaş ile insidansı artan böbrek kistleri çocuklarda göreceli olarak nadirdir. Düşük malignite riski nedeni ile erişkinlerde takip önerilmeyen basit kistlerin çocuklardaki takibi ile ilgili uzlaşılmamıştır. Bu çalışmada basit böbrek kistinin tanısı, takibi ve izlemde karşılaşılabilecek sorunlara değinilmiştir. Gereç ve yöntem: Basit böbrek kisti tanısı ile Aralık 2016-Aralık 2020 tarihleri arasında tek merkezden en az 1 yıl boyunca izlenmiş 18 yaş altı hastalar retrospektif olarak incelenmiş, hastaların demografik, klinik ve radyolojik verileri değerlendirilmiştir. Bulgular: Yirmi yedisi erkek, toplam 48 hastanın tanı anında yaş ortalaması 87,96±54,82 ay, ortalama takip süresi 29,72±17,63 ay olarak bulundu. Yirmi dokuz hastanın başvuru esnasında şikayeti yokken (farklı endikasyonlar nedeni ile yapılan US'de farkedilen) 11 hastada karın ağrısı, 4 hastada idrar yolu enfeksiyonu, 4 hastada enürezis mevcut idi. Otuz altı hastada tam idrar tetkiki normal, 5 hastada piyüri, 3 hastada hematüri, 1 hastada proteinüri, 3 hastada piyüri ve hematüri birlikteliği mevcut idi. Kistlerin %41,7'si üst pol, %27'si alt pol, %31,3'ü mediorenal yerleşimli, 24 hastanın kisti sağ tarafta iken, 21 hastanın sol tarafta ve 3 hastanın bilateral yerleşimli olarak bulundu. Başvuru esnasında ortalama kist çapı 20,38±12,87 mm olarak ölçüldü. Takipte 9 hastada kist boyutlarında artış görülürken, izlemde 1 hastanın kistinin kaybolduğu görüldü. Sonuç: Sonuç olarak, ayrıntılı bir ultrasonografik inceleme ile tanı alabilecek evre 1 ve evre 2 basit böbrek kistlerinde malign dönüşüm ve cerrahi endikasyon gerekliliği nadiren görülse de, takiplerinde evre artışı, ODPKB hastalığı, hipertansiyon ya da böbrek fonksiyon bozukluğu gibi ortaya çıkabilecek durumlar nedeni ile izlemleri gereklidir.

Uludağ Üniversitesi, 2014

Pediatric Nephrology, 2021

Background Children are one of the most vulnerable groups in conflict zones, especially those wit... more Background Children are one of the most vulnerable groups in conflict zones, especially those with chronic diseases. This study aimed to investigate kidney disease profiles and problems during follow-up in a population of Syrian refugee children residing in Turkey. Methods Syrian refugee children aged between 0 and 18 years were included in the study. Demographic data, diagnosis, particular interventions due to nephrological problems, and problems encountered during follow-up were obtained from all participating pediatric nephrology centers. Results Data from 633 children from 22 pediatric nephrology centers were included. Mean age of the children was 94.8 ± 61.7 months and 375 were male (59%). 57.7% had parental consanguinity and 23.3% had a close relative(s) with kidney disease. The most common kidney diseases were congenital anomalies of the kidney and urinary tract (CAKUT) (31.0%), glomerular disease (19.9%), chronic kidney disease (CKD) (14.8%), and urolithiasis (10.7%). Frequent reasons for CAKUT were nonobstructive hydronephrosis (23.0%), vesico-ureteral reflux (18.4%), and neurogenic bladder (15.8%). The most common etiology of glomerular diseases was nephrotic syndrome (69%). Ninety-four children had CKD, and 58 children were on chronic dialysis. Six children had kidney transplantation. Surgical intervention was performed on 111 patients. The language barrier, lack of medical records, and frequent disruptions in periodic follow-ups were the main problems noted. Conclusions CAKUT, glomerular disease, and CKD were highly prevalent in Syrian refugee children. Knowing the frequency of chronic diseases and the problems encountered in refugees would facilitate better treatment options and preventive measures.

Experimed, 2021

Objective: Our aim was to determine the problem rates and service requirements according to the W... more Objective: Our aim was to determine the problem rates and service requirements according to the World Health Organization International Classification of Functioning in Children and Adolescents (ICF-CY) system defining specified areas such as body structures, functionality, activity, participation in life and environmental factors in premature children born weighing <1000 g and aged 3 to 5 years during the research process. Material and Method: The physical and neurological examination results and perinatal and sociodemographic characteristics were examined for 58 preschoolers who had been born prematurely and they were evaluated in terms of communication, socialization, movement, and daily living skills using the Vineland Adaptation and Behavior Scale. The results were adapted to the ICF-CY model. Results: The proportions of functionality problems of our cases were found to be 20.6% for communication, 12.1% for participation in daily life skills, 19% for socialization and 29.3% for movement. Severe behavioral problems incompatible with age were identified in only 3 cases. Movement functionality was determined to significantly affect self-care functionality, participation in home life activities, socialization functionality, participation in games and leisure activities, and learning and problem solving function-ÖZ Amaç: Bu çalışmada, 1000 gram ve altında doğan ve 3-5 yaşına gelmiş çocukların, Dünya Sağlık Örgütü Çocuk ve Ergenlerde Uluslararası İşlevsellik Sınıflaması (ICF-CY) sisteminde belirlenen alanlarda sorunla karşılaşma oranları araştırılarak ve hizmet ihtiyaçlarının belirlenmesi amaçlanmıştır. Gereç ve Yöntem: Elli sekiz çocuğa okul öncesi dönemde fizik muayene ve ayrıntılı nörolojik inceleme yapıldı. Bu çocuklar perinatal ve sosyodemografik özellikler yönünden irdelenerek tüm çocuklara Vineland Uyum ve Davranış Ölçeği uygulanmıştır. Sonuçlar ICF-CY modeline uyarlanmıştır. Bulgular: Olgularımızın iletişim işlevselliğinde %20,6'sının, günlük yaşam becerilerine katılımında %12,1'inin, sosyalleşme işlevselliğinde %19'unun, hareket işlevselliğinde ise %29,3'ünün ciddi düzeyde sorun yaşadıkları saptanmıştır. Sadece 3 olguda ciddi düzeyde yaşla uyumlu olmayan davranış sorunu tanımlanmıştır. Hareket işlevselliğinin; öz bakım işlevselliğini, ev yaşamı etkinliklerine katılımı, sosyalleşme işlevselliğini, oyun ve boş zaman etkinliklerine katılımı, öğrenme ve problem çözme işlevselliğini anlamlı olarak etkilediği belirlenmiştir. Olgularımızın %22,4'ünün (13 olgu) yüksek seviyede özel eğitim desteğine ihtiyacı olduğu belirlenmiştir. Tartışma: Günümüzde yaşama şansları oldukça yüksek olan aşırı düşük doğum ağırlıklı prematürelerin işlevsellik, etkinlik, yaşama

Güncel Pediatri, 2019

GİRİŞ ve AMAÇ: Bu çalışmada, periton diyaliz ünitemizdeki peritonit ataklarının etyolojisi, klini... more GİRİŞ ve AMAÇ: Bu çalışmada, periton diyaliz ünitemizdeki peritonit ataklarının etyolojisi, klinik bulgusu, tedavisi, görülme sıklığı ve mikrobiyolojik profili incelenmiştir.

TURKISH JOURNAL OF MEDICAL SCIENCES, 2021

Background/aim: Nephrocalcinosis (NC) is defined as calcium deposition in the kidney parenchyma a... more Background/aim: Nephrocalcinosis (NC) is defined as calcium deposition in the kidney parenchyma and tubules. This study aims to determine the etiology, risk factors, and follow-up results of patients with NC in Turkey. Materials and methods: Patients diagnosed with NC in the pediatric nephrology Department Units of 19 centers from all geographical regions of Turkey over a 10-year period (2010-2019) were included in the study. The medical records from the centers were reviewed and demographic data, admission complaints, medical history, systemic and genetic disorders, risk factors for NC, treatment details, and presence of NC after one-year follow-up, were recorded retrospectively. Results: The study sample included 195 patients (88 females, 107 males). The mean age at diagnosis was 39.44 ± 47.25 (0.5-208) months; 82/190 patients (43.2%) were diagnosed incidentally; 46/195 patients (23.6%) had an underlying disease; idiopathic hypercalciuria was detected in 75/195 (38.4%) patients. The most common systemic diseases were distal renal tubular acidosis in 11/46 patients (23.9%), primary hyperoxaluria in 9/46 patients (19.6%) and Bartter syndrome in 7/46 patients (15.3%). After one year of follow-up, NC resolved in 56/159 patients (35.2%) and they all did not have an underlying systemic disease. Conclusion: The most common presentation of NC was incidental. Distal renal tubular acidosis and primary hyperoxaluria were the main systemic diseases leading to NC, while hypercalciuria was the most common metabolic risk factor. Nephrocalcinosis was found to remain in most of the patients at a one-year follow-up. It may resolve particularly in patients with no underlying systemic disease.

Journal of Hypertension and Management, Dec 31, 2017

Backgrounds: Hypertension (HTN) in childhood is a serious cause of mortality and morbidity Hypert... more Backgrounds: Hypertension (HTN) in childhood is a serious cause of mortality and morbidity Hypertension during childhood is diagnosed more than past as a consequence of increasing awareness about childhood hypertension, measuring blood pressure by the accurate technique and childhood obesity epidemic. Aims: Demographic profiles, treatment regimens, response to treatment and etiology of hypertension were reviewed in children diagnosed with hypertension in this study. Study design: Retrospective cross-sectional study. Methods: Children diagnosed with hypertension in our center between January 1, 2012 and December 31, 2013 was reviewed in this study. Results: The mean age of 231 patients diagnosed as hypertensive was 14.4 ± 4.5 at the time of diagnosis. One hundred seventeen patients (50.6%) were classified as having primary hypertension and 49.4% of the patients were classified as having secondary hypertension. Family history was present in 11.7% of the patients. Twenty patients with primary hypertension had family history whereas 7 patients with secondary hypertension had family history; this difference was statistically significant (p = 0.01). There were 17 hypertensive children with chronic kidney disease and 20 renal transplantation patients were found to be hypertensive. End organ damage was found in 136 patients. Ninety four patients were advised life style changes, 60 patients were treated by calcium channel blockers, 22 patients by angiotensin converting enzyme inhibitors, 19 patients by beta blockers and the rest of the patients by combined therapy. Treatment was efficient in 76.6% of the patients. Response to treatment did not differ between primary and secondary hypertension. There was no association between end organ damage and younger age at the time of diagnosis.

Clinical Pediatrics, 2014

Objectives: Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology. Coronary a... more Objectives: Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology. Coronary artery lesions (CAL) develop in 15% to 20% of untreated cases. Our objective was to evaluate demographic, clinical, and laboratory features and short-intermediate coronary artery outcomes of children with KD. Patients and Methods: Medical records of patients with KD were retrospectively identified. Clinical information and echocardiography, laboratory, and angiographic results were noted using a standardized form. Results: The study included 44 patients with a mean age of the 29.72 ± 21 months (ranging from 1 month to 9.5 years). There were 28 male and 16 female patients; 20 patients were diagnosed as having had incomplete KD. Four cases with atypical presentation were significantly older than children with complete and incomplete KD; 17 patients (38.6 %) had coronary artery aneurysm (CAA), which declined to 6.8% after intravenous immunoglobulin (IVIG) treatment. Time between fever and di...

The Pediatric Infectious Disease Journal, 2011

The interferon-gamma release assays have greater specificity than the tuberculin skin test (TST),... more The interferon-gamma release assays have greater specificity than the tuberculin skin test (TST), and at least equal sensitivity. We analyzed the sensitivity and specificity of the TST in immunocompetent children considering QuantiFERON as the referent standard. A TST cutoff point of Ն5 mm indicates excellent sensitivity (100%) and specificity (93%) in children without Bacillus Calmette-Guérin. In Bacillus Calmette-Guérin-vaccinated children, the TST cutoff point of Ն10 mm had poorer specificity (86%), and a cutoff point of Ն15 mm resulted in reduced sensitivity (60%).