Person: ALPAY, HARİKA
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ALPAY
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HARİKA
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Publication Metadata only Hypercalciuria and recurrent urinary tract infections: incidence and symptoms in children over 5 years of age(SPRINGER, 2005) ALPAY, HARİKA; Biyikli, NK; Alpay, H; Guran, THypercalciuria is an important and common risk factor in the formation of renal stones. In this study we evaluated the incidence and the clinical presentation of hypercalciuria in 75 children over 5 years of age with the diagnosis of recurrent urinary tract infection (UTI). We measured random urinary calcium/creatinine value (three times), 24-h urinary calcium excretion, serum calcium, phosphorus, electrolytes, blood gas, blood urea nitrogen and creatinine levels. Hypercalciuria was found in 32 patients (43%). The mean urinary calcium/creatinine ratio for hypercalciuric patients was 0.50 +/- 0.21 mg/mg (min: 0.24, max: 2.60). The mean urinary calcium/creatinine ratio for the rest of the study population-those without hypercalciuria-was 0.10 +/- 0.04 mg/mg (min: 0.01, max: 0.18). Presenting symptoms of the hypercalciuric patients and normocalciuric patients were similar. History of familial urolithiasis was positive in 19 patients (59%). Predisposing urinary tract abnormalities in recurrent UTI was shown in 12 of the hypercalciuric patients (12/32, 37.5%) and 8 of the normocalciuric patients (8/43, 19%) without a statistically significant difference between. We conclude that hypercalciuria is not a rare finding among recurrent UTI cases in Turkish children. Hypercalciuria does not modify the clinical presentation of UTI, and we suggest the investigation of urinary calcium excretion in children with recurrent UTI.Publication Metadata only Paraoxonase 1 192 and 55 polymorphisms in nephrotic children(SPRINGER, 2006) ALPAY, HARİKA; Biyikli, NK; Alpay, H; Yildiz, N; Agachan, B; Ergen, A; Zeybek, U; Bozkurt, N; Ispir, THuman paraoxonase 1 (PON1) is a serum enzyme related to high-density lipoprotein which has a major role in preventing oxidative modification of low-density lipoprotein. Due to its amino acid substitution PON1 has two genetic polymorphisms. These polymorphisms are characterized by the location of glutamine (A genotype) and arginine (B genotype) at position 192, and leucine (L genotype) and methionine (M genotype) at position 55. Hyperlipidemia and increased lipid oxidation in nephrotic syndrome may lead to glomerulosclerosis and progression of the glomerular disease. In this study we aimed to investigate PON1 192 and PON1 55 polymorphisms in children with focal segmental glomerulosclerosis (FSGS) and control subjects. The study included 25 children with biopsy-proven FSGS and 30 healthy controls. We demonstrated a statistically significant difference between FSGS patients and control subjects with respect to the distribution of the PON1 polymorphism. The AA genotype was less frequent and the AB+BB genotype was more frequent in FSGS patients than in controls (48 versus 73% for AA genotype and 52 versus 27% for AB+BB genotype, p < 0.05). Distributions of PON1 55 genotypes of FSGS and control subjects were also statistically different (76 versus 43% for LL genotype and 24 versus 57% for LM+MM genotype, p < 0.05) (case-control study, dominant model, Fisher's exact test). The distributions of both genotypes in subgroups of FSGS (stable renal function versus declining renal function) were not statistically different. We conclude in this preliminary study that presence of B allele and/or L allele may be risk factors for the development of FSGS in children.Publication Metadata only Ambulatory blood pressure monitoring in healthy children with parental hypertension(SPRINGER, 2009) TOPUZOĞLU, AHMET; Alpay, Harika; Oezdemir, Nihal; Wuehl, Elke; Topuzoglu, AhmetThe aim of this study was to compare ambulatory blood pressure monitoring (ABPM) parameters in offspring with at least one hypertensive parent (HP) to offspring with normotensive parents (NP) and to determine whether gender of parent or child might influence the association between parental hypertension and blood pressure (BP). Eighty-nine healthy children (mean age 11.1 +/- 3.9 years) with HP and 90 controls (mean age 10.5 +/- 3.1 years) with NP were recruited. Age, gender, and height did not differ between the two groups, whereas children of HP had higher weight, body mass index (BMI), and waist circumference compared with healthy controls. No difference was found in casual BP between the two groups. In contrast, during ABPM daytime and nighttime mean systolic and diastolic BP and mean arterial pressure (MAP) standard deviation scores (SDS) were significantly elevated in children with HP. The mean percentage of nocturnal BP decline (dipping) was not significantly different between the two groups. Children with hypertensive mothers had higher daytime systolic and MAP SDS than controls; no such difference was detected for children with hypertensive fathers. Daytime systolic and MAP SDS were significantly elevated in boys with HP compared with boys with NP but failed to be significant in girls. Multiple linear regression analysis showed that parental history of hypertension (B=0.29) and BMI (B=0.03) were independently correlated with increase of daytime MAP SDS. Early changes in ambulatory BP parameters were present in healthy children of HP. BP in HP offspring was influenced by the gender of the affected parent and the offspring.Publication Metadata only The co-existence of membranoproliferatA +/- ve glomerulonephritis type 1 and coeliac disease: a case report(SPRINGER, 2009) ALPAY, HARİKA; Biyikli, Nese Karaaslan; Gokce, Ibrahim; Cakalagoglu, Fulya; Arbak, Serap; Alpay, HarikaCoeliac disease is an autoimmune enteropathy characterised by chronic inflammation of the small intestinal mucosa and the presence of typical autoantibodies. Coeliac disease may be a risk factor for renal disease. Immunoglobulin A (IgA) nephropathy is reported in the majority of these cases. Only one adult patient had been reported with membranoproliferative glomerulonephritis (MPGN) and coeliac disease. Here, we report a case in a 12-year-old girl with coeliac disease who presented with severe anaemia and later developed nephrotic syndrome. Renal biopsy of the patient was consistent with MPGN type 1, which has not been previously reported in children with coeliac disease. A gluten-free diet was started. After 6 months of this diet, her nephrotic syndrome resolved completely. This case is presented to draw attention to the rare association of coeliac disease and MPGN type 1.Publication Metadata only Membranous nephropathy in Schimke immuno-osseous dysplasia(SPRINGER, 2006) BEREKET, ABDULLAH; Ozdemir, Nihal; Alpay, Harika; Bereket, Abdullah; Bereket, Gamze; Biyikli, Nese; Aydogan, Metin; Cakalagoglu, Fulya; Kilicaslan, Isin; Akpinar, IhsanSchimke immuno-osseous dysplasia is a rare autosomal recessive multi-system disorder, with clinical features of growth retardation, spondylo-epiphyseal dysplasia, nephrotic syndrome and immunodeficiency beginning in childhood. Here, we report a new case, in a 10-year-old boy with characteristic symptoms of Schimke immuno-osseous dysplasia. The patient presented with short stature and, later, developed nephrotic syndrome and peritonitis. In addition, he had perinuclear anti-neutrophilic cytoplasmic antibody (p-ANCA)-positive arthritis. Renal pathology of the patients with this disease usually show focal segmental glomerulonephritis, whereas our patient had membranous nephropathy, which has not previously been reported.Publication Metadata only Childhood vasculitides in Turkey: A nationwide survey(2007) ALPAY, HARİKA; Ozen S., Bakkaloglu A., Dusunsel R., Soylemezoglu O., Ozaltin F., Poyrazoglu H., Kasapcopur O., Ozkaya O., Yalcinkaya F., Balat A., Kural N., Donmez O., Alpay H., Anarat A., Mir S., Gur-Guven A., Sonmez F., Gok F.Aim: The aims of this study were to evaluate the characteristics of childhood vasculitides and to establish the first registry in Turkey, an eastern Mediterranean country with a white population. Patients and methods: A questionnaire was distributed to the main referral centers asking for the registration of the Henoch-Schönlein purpura (HSP) patients in the last calendar year only and 5 years for other vasculitides. Demographic, clinical, and laboratory data were assessed. Results: Vasculitic diseases were registered from 15 pediatric centers. These centers had a fair representation throughout the country. In the last calendar year, incidences were as follows: HSP 81.6%, Kawasaki disease (KD) 9.0%, childhood polyarteritis nodosa (C-PAN) 5.6%, Takayasu arteritis (TA) 1.5%, Wegener's granulomatosis 0.4%, and Behçet disease 1.9%. There was no clear gender dominance. The mean age was 11.05±4.89 years. Acute phase reactants were elevated in almost all, highest figures being in C-PAN. Renal involvement was present in 28.6% of HSP and 53% of the C-PAN patients. Abdominal aorta was involved in all TA patients. Among the C-PAN patients, 25% had microscopic PAN with necrotizing glomerulonephritis; antineutrophil cytoplasmic antibody was positive in those who were studied. Among the patients, 12.5% and 15% had classic PAN and cutaneous PAN, respectively. The remaining majority were classified as systemic C-PAN diagnosed with biopsies and/or angiograms demonstrating small to midsize artery involvement. The overall prognosis was better than reported in adult series. Conclusion: This is the largest multicenter study defining the demographic data for childhood vasculitides. The distribution of childhood vasculitides was different in our population where KD is much less frequent, whereas HSP constitutes an overwhelming majority. C-PAN was more frequent as well. © Clinical Rheumatology 2006.Publication Metadata only The efficacy of Tc99m dimercaptosuccinic acid (Tc-DMSA) scintigraphy and ultrasonography in detecting renal scars in children with primary vesicoureteral reflux (VUR)(SPRINGER, 2006) ALPAY, HARİKA; Temiz, Y.; Tarcan, T.; Onol, F. F.; Alpay, H.; Simsek, F.Introduction: Pyelonephritis-induced renal scarring in children is a major predisposing factor for proteinuria, hypertension, and ultimate renal failure. The aim of this study was to investigate and compare the efficacy of Tc99m dimercaptosuccinic acid (Tc-DMSA) renal scintigraphy and renal ultrasonography (USG) in detecting renal scars in children with primary vesicoureteral reflux (VUR). Materials and methods: Tc-DMSA scan and USG studies were done in 62 children who were admitted to our clinic between 1997 and 2003 because of documented urinary tract infection (UTI) and diagnosed with primary VUR. Renal scarring detection rates of Tc-DMSA scan and USG were compared according to reflux grades. Results: In the whole group, renal scars were detected by Tc-DMSA scan and USG in 55% and 38% of refluxing units, respectively. Detection rates of Tc-DMSA and USG according to reflux grades were as follows: 47% and 29% in low-grade VUR (grades 1 and 2), 46% and 25% in mid-grade VUR (grade 3), 76% and 65% in high-grade VUR (grades 4 and 5), respectively. Conclusion: USG was found to be an inappropriate study in the detection of renal parenchymal scars, irrespective of the reflux grade. In this study, Tc-DMSA scan detected scars in 35% of kidneys reported to be normal on USG.Publication Metadata only Henoch-Schonlein Nephritis: A Nationwide Study(KARGER, 2009) ALPAY, HARİKA; Soylemezoglu, O.; Ozkaya, O.; Ozen, S.; Bakkaloglu, A.; Dusunsel, R.; Peru, H.; Cetinyurek, A.; Yildiz, N.; Donmez, O.; Buyan, N.; Mir, S.; Arisoy, N.; Gur-Guven, A.; Alpay, H.; Ekim, M.; Aksu, N.; Soylu, A.; Gok, F.; Poyrazoglu, H.; Sonmez, F.Background/Aim: The aim of this retrospective study was to evaluate the presentation, clinical and pathological manifestations and outcome of the Henoch-Schonlein purpura (HSP) nephritis in children. Methods: Clinical and laboratory data of 443 children with HSP nephritis aged between 3 and 16 years from 16 pediatric nephrology reference centers were analyzed retrospectively. The biopsy findings were graded according to the classification developed by the International Study of Kidney Disease in Children (ISKDC). Results: Renal biopsy was performed in 179 of the patients with HSP nephritis. The most common presenting clinical finding in patients who were biopsied was nephrotic range proteinuria (25%) which was followed by nephritic-nephrotic syndrome (23.5%). The biopsy findings according to the ISKDC were as follows: class I: 8.3%; II: 44.1%; III: 36.3%; IV: 6.7%; V: 3.3%; VI: 1.1%. All of the patients who developed end-stage renal disease had nephritic-nephrotic syndrome at presentation. Of 443 patients, 87.2% had a favorable outcome and 12.8% had an unfavorable outcome. The overall percentage of children who developed end-stage renal disease at follow-up was 1.1%. Logistic regression analysis did not show any association of initial symptoms and histology with outcome. Conclusion: In the presented cohort, the presence of crescents in the first biopsy or presenting clinical findings did not seem to predict the outcome of HSP nephritis in children. We conclude that children with HSP nephritis even with isolated microscopic hematuria and/or mild proteinuria should be followed closely. Copyright (C) 2009 S. Karger AG, BaselPublication Metadata only Schimke immunoosseous dysplasia: Suggestions of genetic diversity(WILEY-LISS, 2007) ALPAY, HARİKA; Clewing, J. Marietta; Fryssira, Helen; Goodman, David; Smithson, Sarah F.; Sloan, Emily A.; Lou, Shu; Huang, Yan; Chow, Kunho; Luecke, Thomas; Alpay, Harika; Andre, Jean-Luc; Asakura, Yumi; Biebuyck-Gouge, Nathalie; Bogdanovic, Radovan; Bonneau, Dominique; Cancrini, Caterina; Cochat, Pierre; Cockfield, Sandra; Collard, Laure; Cordeiro, Isabel; Cormier-Daire, Valerie; Cransberg, Karlien; Cutka, Karel; Deschenes, Georges; Ehrich, Jochen H. H.; Frund, Stefan; Georgaki, Helen; Guillen-Navarro, Encarna; Hinkelmann, Barbara; Kanariou, Maria; Kasap, Belde; Kilic, Sara Sebnem; Lama, Guiliana; Lamfers, Petra; Loirat, Chantal; Majore, Silvia; Milford, David; Morin, Denis; Ozdemir, Nihal; Pontz, Bertram F.; Proesmans, Willem; Psoni, Stavroula; Reichenbach, Herbert; Reif, Silke; Rusu, Cristina; Saraiva, Jorge M.; Sakallioglu, Onur; Schmidt, Beate; Shoemaker, Lawrence; Sigaudy, Sabine; Smith, Graham; Sotsiou, Flora; Stajic, Natasa; Stein, Anja; Stray-Pedersen, Asbjorg; Taha, Doris; Taque, Sophie; Tizard, Jane; Tsimaratos, Michel; Wong, Newton A. C. S.; Boerkoel, Cornelius F.Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiplayseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in switch/sucrose nonfermenting (swi/snf) related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD. However, among 72 patients from different families, we identified only 38 patients with biallelic mutations in the coding exons and splice junctions of the SMARCAL1 gene. This observation, the variable expressivity, and poor genotype-phenotype correlation led us to test several hypotheses including modifying haplotypes, oligogenic inheritance, or locus heterogeneity in SIOD. Haplotypes associated with the two more common mutations, R820H and E848X, did not correlate with phenotype. Also, contrary to monoallelic SMARCAL1 coding mutations indicating oligogenic inheritance, we found that all these patients did not express RNA and/or protein from the other allele and thus have biallelic SMARCAL1 mutations. We hypothesize therefore that the variable expressivity among patients with biallelic SMARCAL1 mutations arises from environmental, genetic, or epigenetic modifiers. Among patients without detectable SMARCAL1 coding mutations, our analyses of cell lines from four of these patients showed that they expressed normal levels of SMARCAL1 mRNA and protein. This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD.Publication Metadata only Two patients with Kabuki syndrome presenting with endocrine problems(2001) BEREKET, ABDULLAH; Bereket, A.; Turan, S.; Alper, G.; Comu, S.; Alpay, H.; Akalin, F.A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems with a broad spectrum of abnormalities. The facial features of the syndrome are specific and independent of ethnic origin. In addition to presenting with endocrine problems, the patients reported here exhibit some novel findings such as congenital alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarche when associated with developmental delay and a peculiar facies.
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