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Öğe Ai?levi? Akdeni?z Ateşli? Bi?r Olguda C1-İnhi?bi?tör Eksi?kli?ği?(2009) Peru, Harun; Elmacı, Ahmet Midhat; Akın, FatihC1 inhibitor (C1-INH) eksikliği ilk kez 1881 yılında tanımlanmıstır. Hastalığın pre- valansının 1/50000 olduğu tahmin edilmektedir. CI-INH eksikliği nadir görülmesine rağmen, birçok hastalığın seyri sırasında da gelisebilmektedir. On yasında kız hasta hastanemize yüzünde ve ellerinde sislik ve karın ağrısı sikayetiyle basvurdu. Hasta beş yıl önce ailevi Akdeniz atesi (FMF) tanısı almıstı ve kolsisin tedavisi kullanmak- taydı. Ellerinde ve yüzündeki sislikler üç yıldır bir ya da iki ayda bir kere oluyor ve 2 gün içinde kendiliğinden düzeliyormus. Laboratuvar incelemelerinde kompleman C4 seviyesi 5mg/dl (normal sımır: 10-40mg/dl), CI-INH düzeyi 0,08 g/L (normal sınır: 0,15-0,35 g/L) idi. Hastaya CI-INH eksikliği tanısı konuldu. Traneksamik asit tedavisi baslandı. Hastanın altı aylık takibi süresince, sadece bir kez hafif bir anjioö- dem atağı görüldü. Bildiğimiz kadarı ile CI-INH eksikliği ve FMF birlikteliği daha önceden bildirilmemistir. Bu yazıda FMF seyri sırasında CI-INH eksikliği tespit edilen bir olgu sunulmustur.Öğe Ailevi akdeniz ateşli bir olguda C1-inhibitör eksikliği(2009) Peru, Harun; Elmacı, Ahmet Midhat; Akın, FatihC1 inhibitör (C1-INH) eksikliği ilk kez 1881 yılında tanımlanmıstır. Hastalığın pre valansının 1/50000 olduğu tahmin edilmektedir. C1-INH eksikliği nadir görülmesin rağmen, birçok hastalığın seyri sırasında da gelisebilmektedir. On yasında kız hast hastanemize yüzünde ve ellerinde sislik ve karın ağrısı sikayetiyle basvurdu. Hast beş yıl önce ailevi Akdeniz atesi (FMF) tanısı almıstı ve kolsisin tedavisi kullanmak taydı. Ellerinde ve yüzündeki sislikler üç yıldır bir ya da iki ayda bir kere oluyor v 2 gün içinde kendiliğinden düzeliyormus. Laboratuvar incelemelerinde komplema C4 seviyesi 5mg/dl (normal sınır: 10-40mg/dl), C1-INH düzeyi 0,08 g/L (norma sınır: 0,15-0,35 g/L) idi. Hastaya C1-INH eksikliği tanısı konuldu. Traneksamik asi tedavisi baslandı. Hastanın altı aylık takibi süresince, sadece bir kez hafif bir anjioö dem atağı görüldü. Bildiğimiz kadarı ile C1-INH eksikliği ve FMF birlikteliği dah önceden bildirilmemistir. Bu yazıda FMF seyri sırasında C1-INH eksikliği tespi edilen bir olgu sunulmustur.Öğe Association of vesicoureteral reflux and renal scarring in urinary tract infections(SOC ARGENTINA PEDIATRIA, 2018) Yilmaz, Isa; Peru, Harun; Yilmaz, Fatma H.; Sekmenli, Tamer; Ciftci, Ilhan; Kara, FatihIntroduction. The aim was to investigate the relationship between vesicoureteral reflux (VUR) and renal damage in non-febrile, febrile for the first time and recurrent urinary tract infection (UTI) patients. The secondary aim was to determine whether C-reactive protein (CRP) in febrile UTIs could be a predictor of renal scarring. Population and methods. This prospective study included non-febrile, febrile for the first time and recurrent pediatric UTI cases. The routine lab analyses comprised a complete blood count, urea, creatinine, fully automated urinalysis, urine culture and CRP analyses. All the participants were examined using urine ultrasonography subsequent to their UTI diagnosis, voiding cystourethrography (VCUG) after six weeks and Tc-99m dimercaptosuccinic acid (DMSA) static renal scintigraphy after six months. Results. There were included 47 children with non-febrile UTIs, 48 with fist febrile UTIs and 61 with recurrent UTIs. A statistically significant difference was found among the groups in terms of VUR and renal scarring (p = 0.001 and p = 0.011, respectively). A statistically significant difference was also found in terms of renal scarring between patients with and without VUR (p = 0.001). Moreover, a statistically significant difference was also present in relation to renal scarring (p<0.05)in patients with five-fold lower or higher CRP values than the accepted cut-off value (5mg/dl). Conclusion. The ratio of renal scars detected was found to be parallel to the VUR frequency. The higher the VUR grade, the more renal damage was found. A positive correlation between elevated CRP and renal scarring was determined, indicating the presence of scarring during the diagnosis of pyelonephritis.Öğe Cardiac Troponin-I in the Serum of Infants of Diabetic Mothers(Greenwich Medical Media Ltd, 2003) Oran, Bülent; Çam, Lokman; Başpınar, Osman; Baysal, Tamer; Reisli, İsmail; Peru, Harun; Karaaslan, Sevim; Koç, Hasan; Gürbilek, MehmetA transient form of hypertrophic cardiomyopathy has been previously described in infants of diabetic mothers. When it occurs, it is generally benign. The purpose of our study was to establish the extent of injury to the cardiomyocytes in symptomatic and asymptomatic patients with and without hypertrophic cardiomyopathy. Thus, we compared 35 consecutive patients to 20 healthy controls, establishing the significance, if any, of differences in cardiac troponin-I and creatine kinase, including its MB-fraction, and seeking to establish the value of these parameters in the diagnosis of cardiac injury. We also determined to levels of glucose and insulin in the serum, and took note of electrocardiographic and echocardiographic investigations. Values were determined at the 1st and 7th days after admission in the patients, while parameters were measured in the control group only on the first day. We found that the levels of cardiac troponin-I in the serum, known to be a marker for cardiac injury, were significantly elevated in symptomatic patients with life-threatening respiratory or haemodynamic distress. We speculate that transient ventricular hypertrophy is neither the cause nor the consequence of damage to the cardiomyocytes. It would be interesting, nonetheless, to determine the relationship, if any, between cardiomyocytic damage and clinical outcome.Öğe A case of homozygous familial hypercholesterolemia with focal segmental glomerulosclerosis(SPRINGER, 2007) Elmaci, Ahmet Midhat; Peru, Harun; Akin, Fatih; Akcoren, Zuhal; Caglar, Melda; Ozel, AhmetFamilial hypercholesterolemia (FH) is a common autosomal dominant inherited disorder characterized by increased levels of circulating plasma low-density lipoprotein cholesterol (LDL-C), tendon xanthomas, and premature atherosclerotic cardiovascular disease. Homozygous FH occurs in only one in a million people. Focal segmental glomerulosclerosis (FSGS) is clinically characterized by proteinuria, which is marked in the majority of cases and accompanied by nephrotic syndrome, high incidence of hypertension, and progression to renal failure. To our knowledge, we herein report for the first time a case of homozygous FH associated with FSGS. A seven-and-a-half-year-old boy was referred to our hospital due to cutaneous xanthomata and growth retardation. He had multiple nodular yellowish cutaneous xanthomatous lesions each 1 cm in size over his knees and sacral region. Laboratory data included cholesterol level of 1,050 mg/dl, low density lipoprotein cholesterol (LDL-C) 951 mg/dl, high-density lipoprotein cholesterol (HDL-C) 29 mg/dl, triglycerides 168 mg/dl, total protein 6.3 g/dl, and albumin 3.2 g/dl. Urinary protein excretion was 78 mg/m(2) per hour. A percutaneous renal biopsy was performed, and histological findings showed FSGS. Treatment with cholestyramine and atorvastatin was unsuccessful in terms of lowering lipids, and he was placed on weekly sessions of plasmapheresis. Total cholesterol was reduced from 1,050 mg/dl to 223 mg/dl, LDL-C from 951 mg/dl to 171 mg/dl, and urinary protein excretion from 78 mg/m(2) per hour to 42 mg/m(2) stop per hour after eight sessions of plasmapheresis. It is our belief that plasmapheresis is a treatment of choice in patients with FSGS associated with FH.Öğe Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis(WALTER DE GRUYTER GMBH, 2015) Cimbek, Emine Ayca; Sen, Yasar; Yuca, Sevil Ari; Peru, HarunCalcium pyrophosphate dehydrate (CPPD) crystal deposition disease (also known as chondrocalcinosis, CC) is a rare metabolic arthropathy mostly seen in elderly patients. Chondrocalcinosis may be associated with metabolic diseases such as hypomagnesemia when it occurs in young people. We report here a case with hypomagnesemia due to familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) who developed CC during clinical follow-up. To our best knowledge this is the first case of a young patient with CPPD associated with FHHNC.Öğe Chronic Kidney Disease in Children in Turkey(2009) Bek, Kenan; Akman, Sema; Bilge, Ilmay; Topaloğlu, Rezan; Çalışkan, Salim; Peru, Harun; Cengiz, Nurcan; Söylemezoğlu, Oğuz[Abstract not Available]Öğe Chronic kidney disease in children in Turkey(SPRINGER, 2009) Bek, Kenan; Akman, Sema; Bilge, Ilmay; Topaloglu, Rezan; Caliskan, Salim; Peru, Harun; Cengiz, NurcanTo determine the incidence, etiology and treatment patterns of chronic kidney disease (CKD) in children a questionnaire was sent to pediatric nephrology centers in Turkey, asking them to report patients under the age of 19 years who had estimated glomerular filtration rates (GFRs) of a parts per thousand currency sign75 ml/min per 1.73 m(2) body surface area, diagnosed in 2005. Twenty-nine centers reported 282 patients (123 female/159 male; mean age 8.05 +/- 5.25 years). Urological problems such as vesicoureteral reflux (18.5%), obstructive uropathy (10.7%) and neurogenic bladder (15.1%) were the leading causes of CKD. The majority of the patients were in stage V (32.5%), IV (29.8%) or III (25.8%). Growth retardation (49.6%) and secondary hyperparathyroidism (72.4%) were very frequent. The GFR levels correlated positively with hemoglobin/hematocrit and calcium levels and negatively with phosphorus and parathyroid hormone (PTH) levels (P < 0.05). Renal replacement therapies were initiated in 35.8% of the patients, peritoneal dialysis in 23%, hemodialysis in 10.6% and transplantation in 2.2%. This was the first multi-center, epidemiologic study done in children with CKD in Turkey. The most striking result was the predominance of vesicoureteral reflux (VUR) or related urological problems as the underlying causes of CKD. Thus, early diagnosis and treatment of these conditions are of vital importance to decrease the incidence of CKD in children.Öğe Çocuk acil servisine zehirlenme nedeni ile başvuran olguların geriye dönük olarak değerlendirilmesi(2017) Yorulmaz, Alaaddin; Akbulut, Hikmet; Yahya, İbaa; Aktaş, Raşit; Emiroğlu, Halil Haldun; Peru, HarunGiriş: Bu çalışmada çocuk acil polikliniğine zehirlenme nedeniyle kabul edilen hastaların demografik ve epidemiyolojik özelliklerini, klinik seyir, laboratuvar sonuçları ve prognozlarını geriye dönük olarak analiz etmeyi amaçladık.Yöntemler: Bu çalışmaya 1 ay-18 yaşları arası zehirlenme nedeni ile başvuran 430 hasta alındı. Hastaların tıbbi verileri geriye dönük olarak dosya bilgilerine göre incelendi. Hastaların yaş, cinsiyet gibi demografik verileri, olayın oluş zamanı, başvuru zamanı, ilacın alınmasından sonra ilk tıbbi müdahaleye kadar geçen süre, zehirlenme nedeni, alınan etken madde, alım şekli, alınan etken madde sayısı, hastaneye başvuru şikayeti incelendi. Bulgular: Çalışma bireyleri tüm çocuk acil servise başvuran hastaların %0,74'ünü oluşturmaktaydı. Hastalarımızın 243'ü (%56,5) kız, 187'si (%43,5) erkek idi. Hastaların yaşları 4 ay ile 220 ay (72,8966,38) arasında değişmekteydi. Hastalarımızın 113'ü (%26,3) yaz, 111'i (%25,8) ilkbahar, 110'u (%25,6) sonbahar ve 96'sı (%22,3) kış ayında başvurdu. 2014 yılında 18, 2015 yılında 193, 2016 yılında 178 ve 2017 yılında 41 zehirlenme hastası acil servisimize başvurdu. Hastalarımızın %12,3'ü 00:00-00:08 saatler, %35,1'i 08:00-16:00 saatler, %52,6'sı 16-24 saatleri arasında hastanemiz acil servisimize başvurdu. Acil servisimize başvuran hastaların 96'sı özkıyım, 334'ü kaza nedeniyle oluşan zehirlenme olduğu belirlendi. Hastalarımızın 142'sinde (%33,02) bulantı, 122'sinde (%28,37) kusma, 102'sinde (%23,72) baş dönmesi şikayetleri mevcuttu. Sonuç: Ülkemiz genelindeki zehirlenmelerin epidemiyolojik özelliklerinin kapsamlı çalışmalar ile belirlenmesinin ve toplumun dikkatinin çekilmesinin çocukluk çağı zehirlenmelerinin önlenmesine önemli katkı sağlayacağı kanısındayız.Öğe A Comparison of Holmium YAG Laser and Electrokinetic Lithotripter in Pediatric Ureteral Stone Treatment(KOWSAR CORP, 2017) Gunduz, Metin; Ciftci, Ilhan; Sekmenli, Tamer; Elmaci, Ahmet Midhat; Peru, HarunBackground: We evaluated endoscopic treatment of ureter stones with a holmium: yttrium-aluminum-garnet laser (Ho: YAG) lithotripter and an electrokinetic lithotripter (EKL) in children. Methods: Patients with ureteral stones, admitted to the pediatric surgery department of our hospital between November 2011 and January 2015, were evaluated retrospectively. Demographic data, initial symptoms, age, sex, stone size, preoperative renal pelvis diameter, use of a jj stent, and complications were recorded. We used a 4.5 Fr semirigid ureterorenoscope with a Ho: YAG lithotripter and an EKL to treat ureteral stones. Results: In patients treated with Ho: YAG lithotripter, a total of 17 ureteroscopic procedures were performed on seven female and six male children having a mean age of 7.62 +/- 4.46 years. Seven of these patients had right, five had left, and one had bilateral ureteral stones, with a mean diameter of 8.96 +/- 3.52 mm. Preoperative pelvis renalis diameter was 16.22 +/- 11.45 mm. A jj stent was used in all patients. Abdominal pain, hematuria, nausea-vomiting, and pollakiuria were the initial symptoms with complications such as hematuria, ureteral damage, infection, and spontaneous jj stent removal. In three cases, fragmentation was not successful and we needed a second session. In the EKL group, a total of 18 ureteroscopic procedures were performed on ten female and six male children with a meanage of 6.81 +/- 3.67 years. Six of these patients had right, eight had left and two had bilateral ureteral stones, with a mean diameter of 8.26 +/- 2.83 mm. Mean preoperative pelvis renalis diameter was 10.18 +/- 2.66 mm. No jj stent was used in these patients. Initial symptoms were abdominal pain, hematuria, nausea-vomiting, vomiting, dysuria, and pain in the costovertebral region, while hematuria was also among the postoperative complication. In two cases, fragmentation was not successful and an extra session was needed. Conclusions: Either of Ho: YAG lithotripter or EKL are effective and can be successfully used in ureteroscopic management of pediatric ureterolithiasis. The complication rate was slightly lower when an EKL was used.Öğe DEVELOPMENT AND VALIDATION OF JUVENILE AUTOINFLAMMATORY DISEASE MULTIDIMENSIONAL ASSESSMENT REPORT (JAIMAR)(BMJ PUBLISHING GROUP, 2014) Konukbay, Dilek; Yıldız, Dilek; Açıkel, Cengizhan; Sözeri, Betül; Makay, Balahan Bora; Ayaz, Nuray; Barut, Kenan; Kısaarslan, Ayşenur Paç; Bilginer, Yelda; Peru, Harun; Erdoğan, Özlem; Ünsal, Erbil; Kasapçopur, Özgür; Gündüz, Zübeyde; Özen, Seza; Demirkaya, Erkan[Abstract not Available]Öğe Early onset of IgA nephropathy presenting with nephrotic syndrome(2008) Peru, Harun; Elmacı, Ahmet Midhat; Akın, Fatih; Orhan, Diclehan; Özel, Ahmet5 yasında erkek hasta hastanemize vucudunda sislik nedeniyle basvurdu. İdrar analizinde mikroskopik hematüri ve nefrotik düzeyde proteinüri saptandı. Kan basıncı normal sınırlardaydı. Kompleman 3 ve 4 düzeyleri normal, ANA negatifti. Hastaya 4 hafta süreyle prednizolon tedavisiverilmesine rağmen proteinürisi sebat ettiği için perkütan böbrek biyopsisi yapıldı. Biyopsi IgA nefropatisi ile uyumluydu. Tedaviye siklofosfamid eklendi. Proteinuri 12 haftalık siklofosfamid tedavisinden sonra düzeldi. Bu IgA nefropati olgusu erken yasta nefrotik sendrom kliniği ile ortaya çıkması sebebiyle rapor edilmistir.Öğe Early onset of IgA nephropathy presenting with nephrotic syndrome(2008) Peru, Harun; Elmacı, Ahmet Midyat; Akın, Fatih; Orhan, Diclehan; Özel, AhmetA 5-year-old boy was admitted to our hospital with the complaint of swelling of his whole body. Urine analysis revealed nephrotic range proteinuria and microscopic hematuria. He was normotensive. Complement C3 and C4 levels were normal. Antinuclear antibodies (ANA) were negative. A percutaneous renal biopsy was performed because of the persistent proteinuria despite a full course of 4 weeks of steroid treatment. The renal biopsy was consistent with IgA nephropathy. Then cyclophosphamide was added to the treatment. Proteinuria disappeared after 12 weeks of cyclophosphamide treatment. This case of IgA nephropathy is reported because of the early age of onset and because of presenting with nephrotic syndrome.Öğe Enterococcus avium Peritonitis in a Child on Continuous Ambulatory Peritoneal Dialysis(MULTIMED INC, 2014) Ugur, Ayse Ruveyda; Findik, Duygu; Dagi, Hatice Turk; Tuncer, Inci; Peru, Harun[Abstract not Available]Öğe Etiology and Outcome of Acute Kidney Injury in Children(Springer, 2010) Düzova, Ali; Bakkaloğlu, Ayşin; Kalyoncu, Mukaddes; Poyrazoğlu, Hakan; Delibaş, Ali; Özkaya, Ozan; Peru, Harun; Alpay, Harika; Söylemezoğlu, Oğuz; Gür Güven, Ayfer; Bak, Mustafa; Bircan, Zelal; Cengiz, Nurcan; Akil, İpek; Özçakar, Birsin; Uncu, Nermin; Karabay Bayazit, Aysun; Sönmez, FerahThe aim of this prospective, multicenter study was to define the etiology and clinical features of acute kidney injury (AKI) in a pediatric patient cohort and to determine prognostic factors. Pediatric-modified RIFLE (pRIFLE) criteria were used to classify AKI. The patient cohort comprised 472 pediatric patients (264 males, 208 females), of whom 32.6% were newborns (median age 3 days, range 1-24 days), and 67.4% were children aged > 1 month (median 2.99 years, range 1 month-18 years). The most common medical conditions were prematurity (42.2%) and congenital heart disease (CHD, 11.7%) in newborns, and malignancy (12.9%) and CHD (12.3%) in children aged > 1 month. Hypoxic/ischemic injury and sepsis were the leading causes of AKI in both age groups. Dialysis was performed in 30.3% of newborns and 33.6% of children aged > 1 month. Mortality was higher in the newborns (42.6 vs. 27.9%; p < 0.005). Stepwise multiple regression analysis revealed the major independent risk factors to be mechanical ventilation [relative risk (RR) 17.31, 95% confidence interval (95% CI) 4.88-61.42], hypervolemia (RR 12.90, 95% CI 1.97-84.37), CHD (RR 9.85, 95% CI 2.08-46.60), and metabolic acidosis (RR 7.64, 95% CI 2.90-20.15) in newborns and mechanical ventilation (RR 8.73, 95% CI 3.95-19.29), hypoxia (RR 5.35, 95% CI 2.26-12.67), and intrinsic AKI (RR 4.91, 95% CI 2.04-11.78) in children aged > 1 month.Öğe The evaluation of carotid intima-media thickness in children with familial Mediterranean fever(SPRINGER LONDON LTD, 2008) Peru, Harun; Altun, Bülent; Doğan, Mustafa; Kara, Fatih; Elmacı, Ahmet Midhat; Oran, BülentThe aim is to investigate whether pediatric familial Mediterranean fever (FMF) patients have an increased risk of premature atherosclerosis and to determine the possible strength of association between atherosclerosis and Mediterranean fever (MEFV) gene mutation gene type. Demographic characteristics and MEFV mutations were defined in 49 children diagnosed with FMF (26 female, 23 male; mean age, 10.71 +/- 3.69 years). Twenty-six age-, sex-, and body-mass-index-matched healthy children constituted the control group. We evaluated the blood counts and acute-phase proteins during attack-free periods. Mean C-reactive protein (CRP), serum amyloid-A (SAA), homocysteine (Hcy), lipoprotein-a (Lp-a), and common carotid artery intima-media thickness (CCA-IMT) were 10.75 +/- 15.29 vs 4.03 +/- 1.20, 23.22 +/- 1.94 vs 3.53 +/- 1.04, 10.36 +/- 3.36 vs 8.64 +/- 3.15, 20.84 +/- 23.89 vs 8.56 +/- 7.48, and 0.038 +/- 0.007 vs 0.032 +/- 0.004, respectively, and significantly higher than the mean values of control group (p < 0.05). However, no correlation was found between CCA-IMT and CRP, SAA, Hcy, and Lp-a. Twenty-nine patients had M694V mutation, and 13 patients had other mutations. There was no correlation between CCA-IMT and MEFV mutation subgroups. In conclusion, because of the nature of the disease, FMF patients should be considered to have an increased risk of early vascular alteration and atherosclerosis. For this reason, CCA-IMT measurement can be recommended as a noninvasive and early diagnostic method.Öğe Evaluation of hematological parameters in children with FMF(SPRINGER LONDON LTD, 2019) Yorulmaz, Alaaddin; Akbulut, Hikmet; Taş, Suna Adeviye; Tıraş, Merve; Yahya, İbaa; Peru, HarunIn this study, we aimed to investigate whether neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR), and mean platelet volume (MPV) might be helpful in the diagnosis of subclinical inflammation of familial Mediterranean fever (FMF). Clinical, laboratory, and genetic results of the patients who were followed up with the diagnosis of FMF were obtained retrospectively from the hospital files and recorded to standardized form. Age- and sex-matched healthy subjects were included as the control group. Eighty-three of the 143 patients (58.0%) were male and 60 (42.0%) were female. The mean age of our patients was 164.62 +/- 51.20months and the mean age of the control group was 164.92 +/- 51.10months. The mean diagnosis age of our patients was 98.10 +/- 49.11months. The mean follow-up time of the patients was 66.03 +/- 36.37months. 91.60% of our patients had abdominal pain, 78.32% fever, and 28.67% joint pain. The mean NLR of the patients was significantly higher than the mean levels at attack-free period and the control group. However, no statistically significant difference was found between the mean levels at attack-free period and the control group. MPV levels were statistically significantly high during acute attack when compared with the control group. However, they showed no statistically significant difference between acute attack and attack-free period. NLR is a useful marker to predict inflammation in FMF patients. However, our results did not support the idea that MPV might reflect acute attack and attack-free period.Öğe Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings(SPRINGER, 2008) Peru, Harun; Akin, Fatih; Elmas, Sefika; Elmaci, Ahmet Midhat; Konrad, MartinFamilial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle. This disease is caused by mutations in the claudin-16 gene (CLDN16), which encodes the tight junction protein, claudin-16. Claudin-16 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe.Öğe Henoch Schonlein purpura in childhood: clinical analysis of 254 cases over a 3-year period(SPRINGER LONDON LTD, 2008) Peru, Harun; Soylemezoglu, Oguz; Bakkaloglu, Sevcan Azime; Elmas, Sefika; Bozkaya, Davut; Elmaci, Ahmet Midhat; Kara, FatihWe aimed to evaluate the patients who were diagnosed as Henoch Schonlein purpura (HSP) for disease characteristics and prognosis of those with joint, gastrointestinal (GI), and renal involvement. Two hundred and fifty-four children who were followed up with the diagnosis of HSP in the Pediatric Nephrology Clinics of Meram Medical Faculty of Selcuk University and Medical Faculty of Gazi University between January 2003 and June 2006 were retrospectively evaluated. The clinical follow-up and treatment regimens of patients in whom renal biopsy was performed were evaluated in detail. The study group consisted of 254 children, 147 boys (57.8%) and 107 girls (42.2%), and the ratio of boys to girls was 1.37. The percentages of skin, joint, GI, and renal manifestations were 100%, 66%, 56%, and 30%, respectively. Eight patients had intussusception. Five of them recovered with steroid treatment only while three patients were operated on. Sixty-four patients (44%) with GI involvement had severe disease and were successfully treated with steroids. Renal biopsy was performed in 26 patients. Among those 26 patients, two of them recovered spontaneously within 3 and 4 weeks. Ten patients improved with only steroid treatment while 12 patients recovered with steroid and cyclophosphamide treatment. Two patients were resistant to steroid and cyclophosphamide treatment and were treated with cyclosporine A. We believe that steroid therapy given to the HSP patients with GI manifestations might be helpful to prevent probable complications such as GI bleeding and intussusception. In addition, combined therapy with steroid and cyclophosphamide can usually be an appropriate treatment for patients with nephrotic proteinuria.Öğe Inspection of Endothelial Nitric Oxide Synthase Gene Polymorphism in Patients With Henoch Schonlein Purpura(TURKISH LEAGUE AGAINST RHEUMATISM, 2014) Somuncu, Makbule Nihan; Yildirim, Mahmut Selman; Zamani, Aysegul; Peru, HarunObjectives: This study aims to investigate the effect of Glu298Asp polymorphism, which is observed at endothelial nitric oxide synthase isoform particularly, having a significant impact on endothelial functions of nitric oxide synthase gene and on vascular system in patients with Henoch Schonlein purpura (HSP). Patients and methods: Ninety-five patients who were diagnosed with HSP and 93 healthy controls without any previous vascular disease, hypertension and other cardiovascular diseases were included in this study. The patient group was compared with the controls for Glu298Asp genotype and allele frequencies. The patients were classified according to the clinical complications and were compared with controls and also each other for allele and genotype frequencies. Real-time polymerase chain reaction and LightCycler (R) 2.0 system were used. Results: There was no statistically significant difference in the genotype frequencies between the HSP patients and healthy controls. No significant differences in Glu298Asp gene polymorphism among the patient groups were observed. However, polymorphism had an significant effect on patients with all involvements statistically (P-TT=0.001, P-GG=0.000). Conclusion: We conclude that Glu298Asp polymorphism has no effect on the development of HSP vasculitis; however, it may have an impact on the clinical progress of the existing disease.
