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Öğe ALL’NİN NADİR BAŞVURU ŞEKLİ; DİABETES MELLİTUS ALL’s rare form of admission; Diabetes Mellitus(2018) Engin, Muhammet Mesut Nezir; Ünal, Nurcan; Kılıçaslan, Önder; Yalçın, Gülşen; Arslanoğlu, İlknur; Kocabay, KenanAkut lenfoblastik lösemi kemik iliği öncü hücrelerinin kontrolsüz biçimde çoğalmaları sonucu kemik iliği hücrelerinin vücuda yayılmasıyla oluşan malign seyirli bir hastalıktır, çocukluk çağında en sık görülen malignitedir. Bulgu ve semptomları çok farklı olabilmektedir. Bu makalede diyabet ön tanısıyla tarafımıza yönlendirilen tetkik ve takiplerinde ALL tanısı konulan olgu sunularak nadir olsa da ALL’nin diyabet semptomlarıyla bulgu verebileceği vurgulanmak istenmiştir.Öğe Approach to obesity in children and adolescents(Turkish Pediatrics Assoc, 2009) Arslanoğlu, İlknurObesity is a disease caused by excess body fat deposition which can give rise to a series of physical and mental complications as well as to public economic problems Although it may be secondary to genetic, endocrine or other diseases the most prevalent form is so called exogenous obesity which is attributed to the imbalance of energy intake and expenditure. The management comprises life style changes such as nutritional planning and close follow-up, preventation, on the other hand. actions at sociopolitical level Medical and surgical therapy plays ignorable role in childhood obesity if any. (Turk Arch Ped 2009; 44: 115-9)Öğe Assesment of the effect of summer camp on the life quality of diabetic children(2017) Bolu, Semih; Danış, Ayşegül; Arslanoğlu, İlknur; Bolu, Filiz; Akçalı, Figen; Aytar, GülşenAim: Type 1 diabetes which is a chronic metabolic disease can affect the quality of life of a person. The aim of this study is to evaluate the life quality of diabetic children and adolescents who are diagnosed with type 1 diabetes mellitus and compare the perceptions of life quality through the life quality scale before and after summer camp.Materials and Method: A scale of life quality was applied to 31 children/adolescents with type 1 Diabetes Mellitus between ages 9-16 years in the Diabetes Summer Camp.Results: The perceived quality of life of children / adolescents with type 1 diabetes were better after diabetes camp (p 0.05). When the Quality of Life Scale scores compared by gender, it was found that the emotional well being and self esteem subscale scores and the total scores of boys were statistically significantly higher after diabetes camp. But the Quality of Life Scale scores of girls did not show a significant increase.Conclusion: This study showed that the diabetes camp, which promoted the ability of diabetic children and adolescents to manage their illnesses, changed the perception of quality of life of male diabetic patients in particular. However, repeating similar studies involving a larger number of cases will allow better evaluation of the results of such activities.Öğe Autistic Feature and 2D: 4D Finger Ratio Relations Children and Adolescents with Congenital Adrenal Hyperplasia [conferenceObject](Wiley-Blackwell, 2016) Kocaman, Gizem Melissa; Özmerdivenli, Recep; Yektaş, Çiğdem; Arslanoğlu, İlknur; Özdemir, Esra; Bolu, Semih; Erdoğan, Ayten…Öğe Çocuk ve ergenlerde şişmanlık sorunu ve yaklaşım(2009) Arslanoğlu, İlknurŞişmanlık, vücutta aşırı yağ depolanmasının neden olduğu, bedensel olduğu kadar ruhsal komplikasyonlara ve toplum ekonomisine zararlı sonuçlara yol açabilen bir hastalıktır. Sendromik, endokrin ve diğer hastalıklara ikincil olabileceği gibi en yaygın nedeni dışsal olarak adlandırılan enerji alım-harcama dengesizliğidir. Tedavisi beslenme başta olmak üzere bir dizi yaşamsal düzenlemeyi ve yakın izlemi, önlenmesi ise toplumsal planda yapılacak girişimleri kapsar. Çocukluk çağında ilaç ve cerrahi tedavinin yeri ise yok denecek kadar azdır.Öğe Complementary and Alternative Medicine in Children with Type 1 Diabetes Mellitus(Galenos Yayincilik, 2011) Haliloğlu, Belma; İşgüven, Pınar; Yıldız, Metin; Arslanoğlu, İlknur; Ergüven, MüferetObjective: Complementary and alternative medicine ( CAM) is increasingly utilized in adults and children for treatment of various conditions. Studies on CAM in diabetes have mainly focused on the adult population and its application in children has not been well established. The aim of this study was to examine the prevalence and characteristics of CAM use in Turkish children with type 1 diabetes mellitus (T1DM). Methods: The information was acquired by a questionnaire completed by a face-to-face interview with the parents of children with T1DM. Results: A total of 195 subjects (mean age: 14.02 +/- 4.7 years; F/M: 103/92) were included in this survey. Use of CAM was reported in 85 subjects (43.6%). Herbal medicines were used in 64 subjects (75.3%). Sixty-nine subjects (81.2%) did not inform the diabetes specialist about CAM use. Thirty-eight subjects (44.7%) evaluated CAM as efficacious. Only 3 subjects (3.5%) interrupted the insulin injections to use CAM. No relationships were found between CAM use and parental education or insulin dose. There were significant correlations between CAM use and higher family income (p=0.027), urban residence (p=0.05), presence of complications (p=0.03), dissatisfaction with medical therapy (p=0.034) and prior CAM use among parents (p=0.001). Conclusion: CAM use is a frequent practice among diabetic children, which is usually not shared with their physicians and sometimes leads to cessation of medical treatment.Öğe Current Practice in Diagnosis and Treatment of Growth Hormone Deficiency in Childhood: A Survey from Turkey(Galenos Yayincilik, 2015) Poyrazoğlu, Şükran; Akçay, Teoman; Arslanoğlu, İlknur; Atabek, Mehmet Emre; Atay, Zeynep; Berberoğlu, Merih; Darendeliler, FeyzaObjective: Approaches to diagnosis and treatment of growth hormone deficiency (GHD) in children vary among countries and even among centers in the same country. This survey, aiming to facilitate the process of preparing the new consensus on GHD by the Turkish Pediatric Endocrinology and Diabetes Society, was designed to evaluate the current practices in diagnosis and treatment of GHD in different centers in Turkey. Methods: A questionnaire covering relevant items for diagnosis and treatment of GHD was sent out to all pediatric endocrinology centers. Results: Twenty-four centers returned the questionnaire. The most frequently used GH stimulation test was L-dopa, followed by clonidine. Eighteen centers used a GH cut-off value of 10 ng/mL for the diagnosis of GHD; this value was 7 ng/mL in 4 centers and 5 ng/mL in 2 centers. The most frequently used assay was immunochemiluminescence for determination of GH, insulin-like growth factor-1 and insulin-like growth factor binding protein-3 concentrations. Sex steroid priming in both sexes was used by 19 centers. The most frequently used starting dose of recombinant human GH (rhGH) in prepubertal children was 0.025-0.030 mg/kg/day and 0.030-0.035 mg/kg/day in pubertal children. Growth velocity was used in the evaluation for growth response to rhGH therapy in all centers. Anthropometric measurements of patients every 3-6 months, fasting blood glucose, bone age and thyroid panel evaluation were used by all centers at follow-up. Main indications for cessation of therapy were decreased height velocity and advanced bone age. Fourteen centers used combined treatment (rhGH and gonadotropin-releasing analogues) to increase final height. Conclusion: Although conformity was found among centers in Turkey in current practice, it is very important to update guideline statements and to modify, if needed, the approach to GHD over time in accordance with new evidence-based clinical studies.Öğe Diyabetik Hastalarda Özelleştirilmiş Eğitim Programının Metabolik Parametreler Üzerine Etkisi(2019) Yılmaz, Özlem; Bolu, Semih; Özdemir, Zeyneb Soysal; Arslanoğlu, İlknur; Bolu, FilizAmaç: HbA1c metabolik kontrolün ölçüsü olarak kullanılmakta olup, üç aylık ortalama kan şekeri değerinigöstermektedir. Diyabet eğitiminin metabolik kontrol, duygusal durum ve öz-bakım üzerine uzun vadeliyararları gösterilmiştir. Bu çalışmada, diyabet kongresi ve yaz okulu öncesi ile sonrasında ölçülen HbA1cdüzeyleri karşılaştırılarak, eğitim programının metabolik kontrol üzerindeki etkisinin incelenmesi amaçlandı.Yöntem: Bu çalışmada, diyabet kongresine ve yaz okuluna katılan, diyabetli çocuk ve aileleri ile erişkindiyabetlilere diyabet eğitimi verildi. Katılımcıların eğitim öncesi ve sonrası HbA1c ölçümleri yapıldı. Başkabir klinikten takip edilen hastaların söyledikleri HbA1c değerleri kabul edildi.Bulgular: Bu çalışmada, diyabet kongresine katılan 91 diyabetli arasından, 57 kişi çalışmaya dahil edildi.Yaz okuluna ise 58 diyabetli hasta katıldı. Kongre öncesi ortalama HbA1c değeri 8,88, kongre sonrası 8,76iken, yaz okulu öncesi ortalama HbA1c değeri 9,94, sonrası ise 9,6 olarak bulundu. Kongre ve yaz okulununöncesindeki ve sonrasındaki HbA1c düzeyleri arasında istatistiksel olarak anlamlı fark bulunmadı.Sonuç: Çalışmamızda, diyabetli bireylerde komplikasyonların azaltılması için iyi HbA1c değerleri hedeflenmektedir. Bu hedefi tutturmak için bireylerin motivasyonlarının artırılması, hastaların ve ailelerin diyabeteğitimlerinin tekrarlanması ve eğitimin sürekliliği gerekmektedir.Öğe Effects of an educational intervention program on weight control in overweight and obese children(Karger, 2009) Eryılmaz, Sema Kabataş; Günöz, Hülya; Arslanoğlu, İlknur; Garibağaoğlu, Muazzez…Öğe The evaluation of forensic age estimation in obese children(Romanian Legal Med Soc, 2018) Çelik, Mehmet Saki; Büken, Bora; Arslanoğlu, İlknur; Bolu, Semih; Sungur, Mehmet AliObjective. The purpose of this study is to evaluate the difference between chronological age and bone age of obese children and to examine the differences in the growth of obese children in terms of their bone age and secondary sex criteria for the forensic age estimation. Material and Methods. The sample of this study consists of 274 obese children (153 girls and 121 boys) who applied to Pediatric Outpatient Clinic of Duzce University School of Medicine between January 2013 and February 2016. Children's left-hand wrist graphs were evaluated retrospectively with Tanner-Whitehouse (TW3) Bone Age Atlas for age estimation. Results. In the present study, it was found that the difference between bone age and chronological age due to obesity in females was less than one year. However, the differences between bone age and chronological age were more than one year in males at 5,8,9,10,11,12 years. In both genders, it was found that the difference was statistically significant in all parameters evaluated according to Tanner criteria. Conclusion. In the present study it was found that it is possible to use TW3 atlas in obese children but it is crucial to evaluate obese children considering the level and duration of obesity. Since the variation may be more than one year in obese boys, it is also recommended to evaluate with other methods for age estimation in obese boys.Öğe A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus(2020) Bolu, Semih; Eröz, Recep; Doğan, Mustafa; Arslanoğlu, İlknur; Uzun, Hakan; Timur, FurkanHeterozygous inactivating mutations in the glucokinase gene cause the mildest form of maturity-onset diabetes of the adolescents. However, homozygous or compound heterozygous mutations in the glucokinase gene are a rare cause of permanent neonatal diabetes mellitus. Herein, we present the case of a male child with permanent neonatal diabetes mellitus whose mutational analysis revealed a novel homozygous deletion mutation in the glucokinase gene. The male proband of Turkish ancestry from consanguineous parents was born at 37 weeks gestation with a birth weight of 1870 g (<3rd percentile). Hyperglycemia developed during the first postnatal day and diabetes-related autoantibodies were negative. He was put on insulin on the first day of life. Insulin has never been discontinued since then. The mother was aged 35 years and had gestational diabetes. The father and the two brothers had impaired fasting glucose. Both parents and brothers were heterozygous for this mutation.Öğe A family with novel homozygous deletion mutation(c.1255delT; p.Phe419Serfs*12) in the glucokinasegene, which is a rare cause of permanent neonataldiabetes mellitus(2020) Doğan, Mustafa; Uzun, Hakan; Arslanoğlu, İlknur; Timur, Furkan; Bolu, Semih; Eröz, RecepHeterozygous inactivating mutations in the glucokinase gene cause the mildest form of maturity-onset diabetes of the adolescents. However, homozygous or compound heterozygous mutations in the glucokinase gene are a rare cause of permanent neonatal diabetes mellitus. Herein, we present the case of a male child with permanent neonatal diabetes mellitus whose mutational analysis revealed a novel homozygous deletion mutation in the glucokinase gene. The male proband of Turkish ancestry from consanguineous parents was born at 37 weeks gestation with a birth weight of 1870 g (<3rd percentile). Hyperglycemia developed during the first postnatal day and diabetes-related autoantibodies were negative. He was put on insulin on the first day of life. Insulin has never been discontinued since then. The mother was aged 35 years and had gestational diabetes. The father and the two brothers had impaired fasting glucose. Both parents and brothers were heterozygous for this mutation.Öğe Internipple Distance and Internipple Index in Prepubertal Turkish Girls(2020) Karaca, Seda Erişen; Cangür, Şengül; Arslanoğlu, İlknurObjective: To determine internipple distance and internipple index in prepubertal Turkish girls.Methods: The internipple distance and chest circumference of 667 healthy prepubertal Turkish girls aged 6 to 11 years were measuredin a school screening program in Düzce. Measurements were performed at the end of expiration with a standard non-stretch tapemeasure graduated in millimeters with the arms hanging in a relaxed position on the sides of the body. The internipple distance wasmeasured between the centers of both nipples, and chest circumference was measured across the internipple line. The internipple indexwas calculated by dividing the internipple distance (cm) x100 by the chest circumference (cm). Age specific internipple index referencecurves were constructed and smoothed with the Lambda-Mu-Sigma method. Mean and standard deviations of internipple distance andinternipple index were calculated according to decimal ages.Results: Age was found to be positively correlated with internipple distance and chest circumference, while it was negatively correlatedwith internipple index. The reference values of internipple index, including 3rd, 10th, 25th, 50th, 75th, 90th, and 97th percentiles, andstandard deviations were calculated for prepubertal girls.Conclusion: The reference ranges provided by this study might be helpful for the evaluation of syndromic cases by serving as normativedata for internipple index in prepubertal girls aged 6-11 years in Turkey although ethnic differences may affect applicability to othercountries.Öğe Is complementary and alternative medicine an attitude among type 1 diabetic children?(Karger, 2009) Haliloğlu, Belma; Yıldız, Metin; Arslanoğlu, İlknur; İşgüven, Pınar; Ergüven, Müferret…Öğe Neonatal Graves' disease occurring in an infant whose mother had a thyroidectomy due to Graves' disease [Graves hastali?i nedeniyle tiroidektomi olan annenin yenido?an bebe?inde Graves hastali?i: Bir vaka takdimi](Cocuk Sagligi ve Hastaliklan Dergisi, 2015) Bolu, Semih; Karakaşlı, Özlem; Ay, Oğuzhan; Soysal, Zeyneb; Şenses, Dursun Ali; Arslanoğlu, İlknurNeonatal Graves' disease caused by fetal thyroid gland stimulation is the result of transplacental passage of maternal thyroid-stimulating hormone receptor antibodies in the second trimester of pregnancy. A mother with Graves-Basedow disease had a total thyroidectomy operation three months before a pregnancy; maternal TSH receptor antibody (TRAb) were detected at the sixth month of pregnancy. Antithyroid drug therapy was started to the 34 weeks' gestational age infant, who was diagnosed with neonatal hyperthyroidism. The condition improved after five weeks of antithyroid therapy. The pathogenesis was believed to be due to transplacental passage of maternal TRAb. This case is presented to highlight the fact that even mothers who have a total throidectomy for Graves' disease may have infants with rarely seen neonatal Graves' disease due to the presence of maternal TRAb in the circulation.Öğe A Novel p.Arg179Ser (c.537 G>T) Heterozygotes Mutation on Exon 3 of SRD5A2 Gene Accompany with Biotinidase Deficiency in Case with Ambiguous External Genitalia(Duzce Univ, 2017) Bolu, Semih; Eröz, Recep; Doğan, Mustafa; Arslanoğlu, İlknur; Gün, Emrah; Yüce, HüseyinThe SRD5A2 gene that encodes SRD5A2 enzyme is placed on chromosome 2p23. The gene includes 5 exons that are translated into a 254-amino acid protein. To evaluate SRD5A2 gene that encodes SRD5A2 enzyme is placed on chromosome 2p23 accompany with biotinidase deficiency in case with ambiguous external genitalia. We investigated a case with ambiguous external genitalia for cytogenetic and gene mutation analysis. Gene mutation analysis and cytogenetic analysis were performed according to a standard DNA sequencing method and the present international standard nomenclature (ISCN), respectively. A Novel p.Arg179Ser (c.537 G>T) heterozygotes mutation on exon 3 of SRD5A2 gene accompany with biotinidase deficiency was detected. The chromosomal analysis result is 46, XY. This is the first case with biotinidase deficiency and novel R179S p.Arg179Ser (c.537 G>T) mutation of the SRD5A2 gene, which cause 5-alpha reductase deficiency.Öğe A Novel p.Arg179Ser (c.537 GT) HeterozygotesMutation on Exon 3 of SRD5A2 Gene Accompany withBiotinidase Deficiency in Case with Ambiguous ExternalGenitalia(2017) Bolu, Semih; Doğan, Mustafa; Arslanoğlu, İlknur; Gün, Emrah; Yüce, Hüseyin; Eröz, RecepSRD5A2 enzimini kodlayan SRD5A2geni kromozomun 2p23 bölgesinde yerleşir. Genin kodlayan bölgesi 254 amino asitlik bir proteine çevrilen 5 ekzon bölgesi içerir. Çalışmanın amacı, belirsiz dış genitalli vakada biyotinidaz eksikliğinin eşlik ettiği kromozom 2p23 bölgesinde yerleşen SRD5A2 enzimini kodlayan SRD5A2genini değerlendirmektir. Biz belirsiz dış genitalli bir vakayı sitogenetik ve gen mutasyonu analizi için inceledik. Gen mutasyon analizi ve sitogenetik analizler sırasıyla, PCR temelli bir standart DNA sekans metodu ve uluslararası standart terminolojiye (ISCN) göre yapıldı. Biyotinidaz eksikliğinin eşlik ettiği, SRD5A2 geninin ekzon 3'ünde yeni bir heterozigot mutasyonu pArg179Ser (c.537 GT) tespit edildi. Kromozomal analiz sonucu 46, XY'idi. Bu biyotinidaz eksikliği olan ve 5 alfa redüktaz eksikliğine neden olan SRD5A2 geninde yeni bir mutasyon R179S p.Arg179Ser (c.537 GT) olan ilk olgudur.Öğe Obez Çocuklardaki Hipertansiyon ve İnsülin Direncinin Kardiyak İşlev Bozukluğuna Etkisinin Ekokardiyografi İle Değerlendirilmesi(2016) Erdem, Ayhan; Yavuz, Taner; Arslanoğlu, İlknur; Kocabay, KenanAmaç: Bu çalışmada obez çocukların kardiyak işlevlerinin ekokardiyografi ile değerlendirilmesi, ayrıca bulunan sonuçlara insülin direnci ve hipertansiyonun ne şekilde etki ettiğinin araştırılması amaçlanmıştır.Gereç ve Yöntem: Yaşları 4-19 arasında değişen (ortalama 11,63,70 yıl) ve VKİ 95 persantil ve üzerindeki 52 çocuk (Erkek: 32, Kız: 20) çalışmaya dahil edildi. VKİ normal sınırlarda olan, yaş (4-19, ortalama 11,04,1 yıl) ve cinsiyeti (Erkek: 25, Kız: 19) uyumlu 44 sağlıklı çocuk kontrol grubunu oluşturdu. Obezlerde açlık kan şekeri, tiroit hormonları, lipit profili, insülin ve kortizol düzeyleri ölçüldü. Obez hastalar ayrıca hipertansiyon ve/veya insülin direnci olup olmamasına göre 4 alt gruba da ayrılarak kıyaslandı. Hasta ve kontrol grubunun hem sağ hem de sol ventrikülün M mod, iki boyutlu ve Doppler ekokardiyografi ölçümleri yapıldı. Sağ ve sol ventrikülün MPİ değerleri hesaplandı. Grupların karşılaştırılmasında bağımsız örneklem t-testi, Tek Yönlü Varyans Analizi Testi (One-Way ANOVA) kullanıldı, Post Hoc testinde Sidak yöntemi kullanıldı, p0.05 anlamlı olarak kabul edildi.Bulgular: Obez çocukların VKİ ortalaması 29,375,08 kg/m2 kontrol grubunun VKİ ortalaması ise 26,667,84 kg/m2 bulundu (p0.05). Obez çocukların hem SKB ortalaması (115,913,2 mmHg) hem de DKB ortalaması (70,610,1 mmHg) kontrol grubunun ortalamalarından (sırasıyla 110,88,8 ve 65,77,8 mmHg) anlamlı olarak yüksek idi. Obez grubun SVDSÇ, IVSd, SVK, SVK/boy2.7, SV, IVGZ, EF ve KF değerleri kontrol grubunkinden anlamlı olarak yüksek bulundu. Kontrol grubu ile alt gruplar kıyaslandığında bu istatistiksel farklılığın tek başına İR ve hem İR hem de HT'nun birlikte olduğu obez alt gruplarda daha belirgin olduğu saptandı. Kontrol grubuyla obez çocuk grubunun hem sağ ventrikül ve hem de sol ventrikülün erken ve geç dolum hızları, E/A oranları arasında istatiksel anlamlı farklılık saptanmadı. Buna karşın hem sol ventrikülün hem de sağ ventrikülün İVGZ ve MPİ değerleri obezlerde kontrole göre anlamlı olarak artmıştı. Sol ventrikülün MPİ değeri obez alt grupları arasında farklılık göstermez iken, sağ ventrikül MPİ değerinin kontrollere göre asıl anlamlı farklılığının ise tek başına İR olan ve hem İR hem de HT olan iki obez alt gruptan kaynaklandığını saptadık.Sonuç: Obezite ile İR ve/veya HT birlikteliği kardiyak işlev bozukluğunu belirginleştirebilir. MPİ ve İVGZ değerlerinin, diğer birçok hastalıklarda olduğu gibi obezitede de ve henüz hastalığın asemptomatik evresinde kalp işlev bozukluğunu göstermede kullanışlı ve değerli parametreler olduğu kanısındayız.Öğe The Prevalence of Goiter and Hypothyroidism among School Children 6 Years after Introduction of a Mandatory Salt Iodination Program in a Severely Iodine-Deficient Area of the West Black Sea Region of Turkey(Oxford Univ Press, 2014) Uzun, Hakan; Gözkaya, Serçin; Yeşildal, Nuray; Okur, Mesut; Arslanoğlu, İlknur; Kocabay, Kenan; Şenses, Dursun A.The objective of the current study was to determine the prevalence and the degree of iodine deficiency after mandatory salt iodization in Yigilca's school-aged children. A total of 806 school children aged 6-19 years were evaluated. The prevalence of goiter in children aged 6-12 and 13-19 years was 20.3 and 23.8%, respectively. The prevalence of hypothyroidism in children aged 6-12 and 13-19 years was 10.4 and 18.9%, respectively. The median serum free tetraiodothyronine (fT4) levels in children aged 6-12 and 13-19-years were 1.16 ng/dL and 0.91 ng/dL, respectively. The median urinary iodine concentration levels in children aged 6-12 and 13-19 years were 83 mu g/l and 78 mu g/l, respectively. The frequency of autoimmune thyroid disease was 2.1% in Yigilca's SAC. Goiter and iodine deficiency problems remain in rural areas of the West Black Sea Region of Turkey.Öğe Pseudo-Bartter sendromu ile başvuran kistik fibrozis olgusu(2016) Yılmaz, Özlem; Bolu, Semih; Uzun, Hakan; Arslanoğlu, İlknurPsödo-Bartter sendromu (PBS), hipokalemik, hipokloremik metabolik alkaloz ile karakterize klinik bir tablodur. PBS, Bartter sendromunun aksine idrar elektrolit düzeylerinin normal olması ile ayrılır. Huzursuzluk, kilo alamama yakınması ile getirilen iki buçuk aylık kız hastada inatçı hiponatremi, hipokalemi, hipokloremi ve metabolik alkaloz tespit edildi. Yapılan araştırma sonunda hastadaki bulgular Pseudo-bartter sendromuyla uyumlu olarak değerlendirildi. Bu tablonun sık nedenlerinden biri olan kistik fibrozis (KF) düşünülerek iki kez yapılan ter testinin sonucu pozitif olarak saptandı. Gen analizinde G85E/G542X bileşik heterozigot mutasyonlarının gösterilmesi üzerine hasta KF tanısıyla takibe alındı. KF'e bağlı Pseudo-Bartter sendromu, erken sütçocukluğu döneminde hastalığın ilk bulgusu olarak ortaya çıkabilmektedir
