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End-stage renal disease (ESRD) is a devastating disease associated with cardiovascular morbidity. The prevalence of pericardial syndromes associated with ESRD is increasing because the survival of chronic renal failure (CRF) patients is prolonged. Pericardial involvement in ESRD is seen commonly as acute uremic or dialysis pericarditis and infrequently as chronic constrictive pericarditis (CCP). Here, we report on a 17-year-old male patient who started hemodialysis after kidney graft loss and did not comply with the treatment, and presented with recurrent chest pain, dyspnea, and hypotension. Sequential hemodialysis treatment was given to the patient, who had recurrent pericardial effusion. Despite frequent hemodialysis treatment, the patient’s response to treatment was not adequate. After diagnosis with CCP, total pericardiectomy was performed for definitive treatment. A literature review revealed end-stage kidney disease appears to be a relatively rare cause of CCP. Only a few other cases have been reported so far, mostly in adulthood. This case highlights that CRF patients presenting with symptoms of right heart failure should be investigated for constrictive pericarditis with clinical evaluations and examinations., Son dönem böbrek yetersizliği (SDBY), kardiyovasküler morbidite ile yakından ilişkili yıkıcı bir hastalıktır. Kronik böbrek yetersizliği (KBY) tanılı hastalarının sağ kalım süresi arttığından, KBY ilişkili perikardiyal sendromların prevalansı artmaktadır. SDBY hastalarının perikardiyal tutulumu, yaygın olarak akut üremik perikardit veya diyaliz ilişkili perikardit ve seyrek olarak kronik konstriktif perikardit (KKP) olarak görülür. Bu olguda, böbrek greft kaybı sonrası hemodiyaliz tedavisi başlanan ve tedaviye uyum sağlamayan 17 yaşında erkek hastanın, göğüs ağrısı, nefes darlığı ile tarafımıza tekrarlayan başvuruları olan ve KKP tanısı alan olgu sunuldu. Tekrarlayan perikardiyal efüzyonu olan hastaya, yoğunlaştırılmış hemodiyaliz tedavisi uygulandı. Yoğunlaştırılmış diyaliz tedavisine yanıtı yeterli olmayan hastaya, KKP tanısı konuldu, total perikardiyektomi yapıldı. SDBY, KKP’nin nadir bir nedenidir, literatürde bildirilen vakaların çoğu yetişkin hastalarda tanımlanmış olup, pediatrik yaş grubunda çok nadirdir. Bu olgu, sağ kalp yetersizliği semptomları ile başvuran KBY hastalarının klinik değerlendirmesinde konstriktif perikardit açısından araştırılması gerektiğini vurgulamaktadır.

Amaç: Renal hastalıklar herhangi bir semptoma neden olmadan hematüri ve proteinüri ile ortaya çıkabilirler. Çalışmamızın amacı sağlıklı, okul çağındaki çocuklarda idrar analizi anormalliklerinin idrar dipstick testi ile değerlendirilmesidir. Gereç ve Yöntem: Yaşları 9-10 aralığında olan 1052 (541, erkek, 511 kız) çocuğun idrar dipstick test sonuçları değerlendirildi. İlk idrar analizinde anormallik tespit edilen çocuklarda kalıcı hematüri ve proteinürinin değerlendirilmesi için ikinci bir idrar dipsitick testi yapıldı. Bulgular: Anormal idrar dipstick test sonucu 137 (%13) hastada tespit edildi. On altı (%1,5) çocukta izole hematüri, 22 (%2,1) çocukta izole proteinüri ve bir (%0,1) çocukta kombine hematuria ve proteinuri tespit edildi. İkinci idrar dipsitick testinde hematürinin yanlızca 8 çocukta (%0,8) ve proteinurinin 2 (%0,2) çocukta persiste ettiği görüldü. Ayrıca ilk idrar analizinde 96 (%9,1) çocukta lökosit esteraz pozitifliği, 18 (%1,7) çocukta nitrit pozitifliği, 10 (%0,95) çocukta hem lökosit esteraz hem de nitrit pozitifliği tespit edildi. Sonuç: Çalışmamızın sonuçlarında ikinci bir idrar analizi yapıldığında hematüri ve proteinüri sıklığının düştüğü görülmüştür. Bu nedenle izole hematüri ya da proteinüri saptanan asemptomatik hastalar ikinci bir idrar analizi ile yeniden değerlendirilmelidir. Çalışmamızın sonuçları okul çağı çocuklarında dipstick tarama testi ile hematüri ve proteinüri tespit edilebileceğini ve bu durum böbrek hastalıklarının asemptomatik döneminin bulgusu olabileceğini göstermektedir., Objective: Renal diseases may present with proteinuria, hematuria and pyuria without any symptoms. The aim of the study is to determine of urinalysis abnormalities by urine dipstick screening program in healthy school-aged children. Material and Method: We evaluated results of urine dipstick tests of 1052 children (541 male, 511 female) between the ages of 9 and 10. A second urine dipstick test was performed on those students who had hematuria and/or proteinuria in the first test. Results: Abnormality in urine dipstick test was detected in a total of 137 (13%) children. Sixteen cases had isolated hematuria (1.5%), 22 cases isolated proteinuria (2.1%) and one case (0.1%) combined hematuria-proteinuria. In the second evaluation with the dipstick test, we determined that hematuria persisted only in 8 (0.8%) and proteinuria in 2 cases (0.2%). Additionally, 96 cases (9.1%) were positive for leucocyte-esterase, and 18 cases (1.7%) were nitrite positive in the first screening. Conclusion: Our findings revealed that prevalence of hematuria and proteinuria was reduced in the second urine dipstick screening. Therefore, asymptomatic patients with isolated proteinuria or hematuria should be re-evaluated with a urine dipstick. Our study suggests that with the help of screening tests in schoolaged children; hematuria, and proteinuria can be determined and this might be an indication for the asymptomatic period of a kidney disease.

International audience; Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutations in a candidate gene in eight individuals from five families presenting late-onset NPH with massive renal fibrosis. This gene encodes MAPKBP1, a poorly characterized scaffolding protein for JNK signaling. Immunofluorescence analyses showed that MAPKBP1 is not present at the primary cilium and that fibroblasts from affected individuals did not display ciliogenesis defects, indicating that MAPKBP1 may represent a new family of NPHP not involved in cilia-associated functions. Instead, MAPKBP1 is recruited to mitotic spindle poles (MSPs) during the early phases of mitosis where it colocalizes with its paralog WDR62, which plays a key role at MSP. Detected mutations compromise recruitment of MAPKBP1 to the MSP and/or its interaction with JNK2 or WDR62. Additionally, we show increased DNA damage response signaling in fibroblasts from affected individuals and upon knockdown of Mapkbp1 in murine cell lines, a phenotype previously associated with NPH. In conclusion, we identified mutations in MAPKBP1 as a genetic cause of juvenile or late-onset and cilia-independent NPH.

WOS: 000417141100007, PubMed ID: 29058690, Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding the actin-binding protein advillin (AVIL) in 3 unrelated families with SRNS. While all AVIL mutations resulted in a marked loss of its actin-bundling ability, truncation of AVIL also disrupted colocalization with F-actin, thereby leading to impaired actin binding and severing. Additionally, AVIL colocalized and interacted with the phospholipase enzyme PLCE1 and with the ARP2/3 actin-modulating complex. Knockdown of AVIL in human podocytes reduced actin stress fibers at the cell periphery, prevented recruitment of PLCE1 to the ARP3-rich lamellipodia, blocked EGF-induced generation of diacylglycerol (DAG) by PLCE1, and attenuated the podocyte migration rate (PMR). These effects were reversed by overexpression of WT AVIL but not by overexpression of any of the 3 patient-derived AVIL mutants. The PMR was increased by overexpression of WT Avil or PLCE1, or by EGF stimulation; however, this increased PMR was ameliorated by inhibition of the ARP2/3 complex, indicating that ARP-dependent lamellipodia formation occurs downstream of AVIL and PLCE1 function. Together, these results delineate a comprehensive pathogenic axis of SRNS that integrates loss of AVIL function with alterations in the action of PLCE1, an established SRNS protein., Yale Center for Mendelian Genomics [U54HG006504]; NIHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [DK076683]; Young Scholars Program of Children's Hospital of Fudan University; Basic Science Research Program through the National Research Foundation of Korea [2015R1D1A1A01056685]; DFG fellowships [VE 196/1-1, Jo 1324/1-1, HE 7456/1-1]; German National Academy of Sciences Leopoldina [LPDS-2015-07]; Egyptian Group for Orphan Renal Diseases (EGORD); Department of Science and Technology, Government of India (DST-SERB); National Institute of Diabetes and Digestive and Kidney DiseasesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) [DK-98120]; Public Health ServiceUnited States Public Health Service [DK-56338], We are grateful to the families and study participants for their contributions. We thank the Yale Center for Mendelian Genomics (U54HG006504) for WES analysis. FH is a William E. Harmon Professor of Pediatrics. This research was supported by the NIH (DK076683, to FH); the Young Scholars Program of Children's Hospital of Fudan University (to JR); Basic Science Research Program through the National Research Foundation of Korea 2015R1D1A1A01056685 (to HYG); DFG fellowships (VE 196/1-1, to ATvdV; Jo 1324/1-1, to TJS; and HE 7456/1-1, to TH); the German National Academy of Sciences Leopoldina (LPDS-2015-07, to EW); the Egyptian Group for Orphan Renal Diseases (EGORD) (to NAS); the Department of Science and Technology, Government of India (DST-SERB, to MAJ); the National Institute of Diabetes and Digestive and Kidney Diseases (DK-98120, to SK); and the Public Health Service (DK-56338, to SK).

Urolithiasis is a common condition in pediatric population The risk of recurrence in an individual who had a single episode of urolithiasis has been estimated to be 20 50 Identification of the specific stone type and etiological factor makes it easier for physicans and patients to prevent recurrence To increase urine volume is the most efficacious means of descreasing the concentration of the various substances Appropriate metabolic study will allow rational management of children with urinary stones and reduction of the morbidity and mortality Key words: nbsp;Urolithiasis Metabolic Evaluation Prevention, SummaryUrolithiasis is a common condition in pediatric population The risk of recurrence in an individual who had a single episode of urolithiasis has been estimated to be 20 50 Identification of the specific stone type and etiological factor makes it easier for physicans and patients to prevent recurrence To increase urine volume is the most efficacious means of descreasing the concentration of the various substances Appropriate metabolic study will allow rational management of children with urinary stones and reduction of the morbidity and mortality Key words: nbsp;Urolithiasis Metabolic Evaluation Prevention

Three boys and two girls aged five to nine months with bilateral medullary nephrocalcinosis hypercalcemia and hypercalciuria due to vitamin D intoxication were reported This clinical presentation had developed in three patients on normal doses of vitamin D and in two patients who had received accidentally high doses of vitamin D As high dose of vitamin D leads to vitamin D intoxication hypersensitivity to vitamin D may be another possible cause of intoxcation Key words: Vitamin D Intoxication Medullary Nephrocalcinosis Hypercalcemia Hypercalciuria, D vitamini alımına bağlı hiperkalsemi hiperkalsiüri nefrokalsinoz gelişen yaşları 5 9 ay arasında üçü erkek ikisi kız beş hasta sunuldu Üç olguda normal tedavi dozunda 2 olguda aşırı yüksek doz D vitamini ile bu tablo gelişmişti D vitamini entoksikasyonu aksidental nedenle yüksek doz D vitamini alınmasıyla oluşabileceği gibi bazen aşırı duyarlılık sonucu normal dozlar ile de ortaya çıkabilmektedir Anahtar kelimeler: D Vitamini Entoksikasyon Medüller Nefrokalsinoz Hiperkalsemi Hiperkalsiüri

Impaired host defences in renal failure result in increased frequency and severity of infection Vaccination can induce immunity against infections However in patients with chronic renal failure antibody responses to inactivated vaccines are less than normal Additionally sometimes the use of live vaccines are contraindicated The antibody responses can be improved with increased vaccine dosage and some immunomodulators Immunisation against hepatitis B virus has resulted in a decrease in prevalence Influenza vaccine and polyvalent pneumococcal vaccine have been recommended for patients with chronic renal failure Cytomegalovirus vaccine may attenuate cytomegalovirus disease severity in recipients of renal allografts Key words: nbsp;Chronic Renal Failure Vaccination Hepatitis B Virus Vaccine Influenza Vaccine Pneumococcal Vaccine Cytomegalovirus, SummaryImpaired host defences in renal failure result in increased frequency and severity of infection Vaccination can induce immunity against infections However in patients with chronic renal failure antibody responses to inactivated vaccines are less than normal Additionally sometimes the use of live vaccines are contraindicated The antibody responses can be improved with increased vaccine dosage and some immunomodulators Immunisation against hepatitis B virus has resulted in a decrease in prevalence Influenza vaccine and polyvalent pneumococcal vaccine have been recommended for patients with chronic renal failure Cytomegalovirus vaccine may attenuate cytomegalovirus disease severity in recipients of renal allografts Key words: nbsp;Chronic Renal Failure Vaccination Hepatitis B Virus Vaccine Influenza Vaccine Pneumococcal Vaccine Cytomegalovirus

In this article we report a classic Bartter syndrome Type III case who had bilateral nephrocalcinosis We represented this case because of no paper in the literature before nbsp; The patient was five months old boy Gestational age was 35 weeks complicated by admission severe polyhydroarnnios His birth weight was 2700 gr At admission he had severe dehydration growth retardation normotension Laboratory studies revealed hypokalemia metabolic alkalosis hyponatremia hypochloremia polyuria and elevated plasma levels of renin and aldosterone There was bilateral grade I medullary nephrocalcinosis in the abdominal ultrasonography Clinical and laboratory findings improved after fluid replacement potassium supplementation and indornethacin Gene analysis revealed CIC NkB mutation confirming the patient s diagnosis as Bartter s syndrome type III Key words: Bartter syndrome hypokalemia metabolic alkalosis hyperreninism, Bilateral grade 1 medüller nefrokalsinozis saptanan klasik Bartter sendromu tip 111 olgusunu bu sendromda nefrokalsinozise litaratürde daha önce rastlanmaması nedeniyle sunduk Hastamız beş aylık erkek çocuğuydu Doğum ağırlığı 2700 gramdı Otuzbeşinci gestasyon haftasında doğmuştu Polihidramnios öyküsü mevcuttu Dehidratasyon gelişme geriliği tespit edildi Kan basıncı normaldi Hipokalemi metabolik alkaloz hiponatremi hipokloremi ve poliüri saptandı Plazma renin aktivitesi ve aldosteron düzeyi artmıştı Batın ultrasonografisinde bilateral grade 1 medüller nefrokalsinozis mevcuttu Bartter sendromu olduğu düşünülerek sıvı replasman tedavisi uygulandı KCI takviyesiyle indometazin başlanan hastanın fizik muayene bulguları düzeldi CIC NkB gen mutasyonun saptanması tip III Bartter sendromu tanısını kesinleştirdi Anahtar kelimeler: Bartter sendromu hipopotasemi metabolik alkaloz hiperreninemi

Imerslund Grâsbeck syndrome is a rarely seen autosomal recessive syndrome characterized by megaloblastic anemia and proteinuria This syndrome occurs due to the absorption defect of vitamin B12 and intrinsic factor complex in the terminal ileum Proteinuria and steatorrhea may also be present A 4 5 year old girl complaining of pallor and weakness was diagnosed as megaloblastic anemia Proteinuria was detected and renal biopsy revealed normal histological findings in the light microscopy In the 8 year follow up period her anemia was controlled with monthly vitamin B12 administrations However her proteinuria persisted between 300 and 2500 mg per day Due to this case Imerslund Grâsbeck syndrome is reviewed Key words: Imerslund Grâsbeck Syndrome Megaloblastic Anemia Proteinuria, Imerslund Grâsbeck sendromu nadir görülen otosomal resesif geçişli megaloblastik anemi ve proteinüri ile karakterize bir hastalıktır B12 vitamini intrensek faktör kompleksinin terminal ileumda emilim kusuruna bağlı bu hastalıkta megaloblastik anemiye proteinüri bazen de steatore eşlik etmektedir nbsp; 4 yaşında kız hasta solukluk halsizlik şikayetleri ile başvurmuş ve megaloblastik anemi tanısı konmuştur Hastada idrarda proteinüri saptanmış ve yapılan böbrek biyopsisinde ışık mikroskopisi ile normal histolojik bulgular görülmüştür Hastanın sekiz yıllık izleme döneminde aylık B12 vitamin tedavisi ile anemisi kontrol altına alınmış ancak proteinürinin 300 2500 mg gün düzeyinde sürdüğü belirlenmiştir Bu olgu nedeniyle Imerslund Grâsbeck sendromu tartışılmak istenmiştir Anahtar kelimeler: Megaloblastik Anemi Proteinüri

Mesoblastik nephroma is a renal tumor that is also named as fetal renal hamartoma neonatal mesangimal hamartoma or leiomyomatose hamartoma The physical examination of neonates and infants reveal mostly an abdominal palpable mass In addition hematuria hypertension vomiting and icterus may be observed Diagnostic methods are IVP ultrasonography and computed tomography Removal of the tumor provides longterm survival A newborn operated for mesoblastic nephroma is presented and the renal rumors of neonatal period are reviewed Key words: Renal Tumor Newborn Mesoblastic Nephroma, Mezoblastik nefroma; fetal renal hamartoma yenidoğanın mezankimal hamartoması leiomyomatöz hamartoma gibi değişik adlar ile de anılan bir böbrek tümörüdür Yenidoğan ve erken süt çocukluğu döneminde fizik muayenede batında palpe edilen bir kitle şeklinde saptanır Ek bulgu olarak hematüri hipertansiyon kusma ve sarılık gözlenebilir nbsp; Bu hastaların tanısında; İVP ultrasonografi ve bilgisayarlı tomografiden yararlanılır Tümörün cerrahi olarak çıkartılması ile sağılım sağlanır Yenidoğan döneminde mezoblastik nefroma tanısı konulan bir olgu sunularak yenidoğan dönemi böbrek tümörleri gözden geçirilmiştir Anahtar kelimeler: Renal Tümör Yenidoğan Mesablostik Nefroma

Neurofibromatosis is a multisystemic and autosomal dominant inherited disorder in which vascular anomalies may lead to secondary hypertension Renal artery stenosis is the most common cause of hypertension in such patients A 10 year old male patient with the complaints of headache vomiting vertigo was diagnosed as having neurofibromatosis type I Having observed the presence of hypertension in the patient he was taken under antihypertensive therapy Although there were no abnormalities in the first angiographic evaluation control renal angiography at the end of the first year revealed stenosis in the right main artery and hypovascularisation in the right kidney Nephrectomy was performed after which the patient remained normotensive without any therapy We present this case to show that renovascular hypertension may develop in patients with neurofibromatosis Therefore they should be followed up carefully Key words: Renal Artery Stenosis Neurofibromatosis Hypertension, Multisistemik ve otosomal dominant geçişli bir hastalık olan nörofibromatozda vasküler anomaliler nedeni ile sekonder olarak hipertansiyon ortaya çıkabilmektedir Nörofibromatozlu hastalarda en sık hipertansiyon nedeni renal arter stenozudur Kliniğimize başağrısı kusma başdönmesi yakınmaları ile başvuran 10 yaşındaki erkek hastaya nörofîbromatoz tip I tanısı kondu Antihipertansif tedavi ile kan basıncı kontrol altına alınan hastada ilk yapılan angiografik incelemede vasküler anomali gösterilememesine karşın daha sonra sağana renal arterde belirgin bir stenoz ve sağ böbrekte hipovaskülarizasyon belirlendi Hastaya nefrektomi yapıldı Nefrektomiden sonra antihipertansif ilaçlar kesildi ve hastanın tansiyonu normal sınırlar içinde seyretti Bu olgu nedeniyle nörofibromatozun renovasküler hipertansiyona yol açabileceği bu hastaların sık aralarla izlenmesi gerektiği vurgulandı Anahtar kelimeler: Renal Arter Stenozu Nörofibromatoz Hipertansiyon

DergiPark: 73132 ejovoc A life-long approach that includes extra curriculum activities centered on project based learning must be implemented. Project based learning requires that the teachers acts as consultants to the students to motivate them during the sometimes various stages of the work. Students who are used to classical educational methods may find this new approach sometimes redundant. Lack of information in the available sources may require that the students develop a more creative approach. Experience gained by the author in implementing an integrated approach to computer programming is proving to be prospects in the future if every party involved in the education chain reacts favorably to the needs for change. In the study curriculum that can be applied in computer programming training has been offered through examining others universities’ curricula for the computer programming departments

Amaç: Bu çalışmanın amacı, konvansiyonel oral D vitamini tedavisine dirençli renal osteodistrofili çocuklarda oral “pulse” kalsitriol tedavisinin etkinliğini değerlendirmekti. Gereç ve yöntem: Bazal serum kalsiyum, fosfor, alkalen fosfataz, üre, kreatinin, intakt paratiroid hormon (iPTH), osteokalsin, kalsitriol düzeyleri için örnek alındıktan ve paratiroid bezi ultrasonografisi yapıldıktan sonra haftada üç kez, 2 µg oral pulse kalsitrioil tedavisi başlandı ve tüm parametreler 4-6 ay süreyle izlendi. Bulgular: İkinci ve 6. ayda ölçülen serum iPTH düzeyleri bazal düzeye göre anlamlı olarak düştü (p < 0,05). Bazal ve tedavi sonrası serum osteokalsin ve kalsitriol düzeyleri normal sınırlarda olmasına karşın, serum kalsitriol düzeyindeki artış, serum osteokalsin düzeyindeki azalma istatistiksel olarak anlamlıydı (p < 0,05). Serum Ca, P, CaxP düzeylerindeki değişiklikler istatistiksel olarak anlamlı bulunmadı; ancak alkalen fosfataz düzeyi anlamlı olarak düştü (p < 0,05). Sonuç: Oral “pulse” kalsitriol tedavisi iyi tolere edilmektedir ve bu tedavi kronik böbrek yetersizliği olan sekonder hiperparatiroidizmli çocuklarda serum iPTH düzeyini hiperkalsemi riskine yol açmaksızın baskılayabilmektedir.