Approach to inherited cystic kidney disease

Kistik böbrek hastalıkları, kalıtımsal böbrek hastalıkları içinde en sık görülen grup olup, her biri farklı etiyoloji, patogenez, klinik prezentasyon ve prognoza sahiptir. Hastalığın tanısı aile öyküsü, klinik bulgular ve görüntüleme yöntemleriyle konulabilmektedir ancak bazı olgularda kesin tanı için genetik çalışma gerekebilir. Son on yıl içerisinde kistik böbrek hastalıklarının etyopatogeneziyle ilgili birçok yeni bilgi kazanılmıştır. Edinilen bilgiler özellikle primer siliyanın bozulmuş mekanik algılama fonksiyonu, artmış proliferasyon ve iletişim yolaklarının kist gelişiminin temelini oluşturduğunu işaret etmektedir. Bu derlemede kalıtımsal kistik böbrek hastalıklarının patogenezi, belirtileri ve tanıda genetik incelemenin yeri tartışılmıştır.Cystic kidney diseases are the most frequent form of inherited kidney diseases which have different etiology, pathogenesis, clinical presentation and prognosis. Although diagnosis based on, family history, clinical presentation and imaging modalities, in some circumstances genetic testing can be required. In the last decade a lot of new information about the pathogenesis of cystic kidney diseases have been reported. It has been showed that, deteriorated mechanical sensing function of primary cilia, increased proliferation and signaling pathways constitute the basis of cyst development. In this review the pathogenesis, clinical presentation and genetic evaluation of inherited cystic kidney diseases have been discussed

Renal abscess in childhood: Report of five cases and review of literature

Böbrek apsesi çocukluk çağında nadir görülür ve özgün belirtileri olmadığından tanıda güçlükler olabilir. Hastaların tanısında klinik, laboratuar ve görüntüleme yöntemleri yardımcıdır. Tanıyı takiben hızla antibiyotik tedavisi başlanmalıdır. Bazı olgularda perkütan ve/veya cerrahi drenaj, ciddi olgularda ise nefrektomi gerekebilir. Bu çalışmada böbrek apsesi olan 5 hasta tartışılmış ve literatür gözden geçirilmiştir.Renal abscess is uncommon in childhood and due to nonspecific clinical features there could be diagnostic difficulties. Clinical features, laboratory findings and imaging modalities are helpful in diagnosis. Subsequent to diagnosis, antibiotic treatment should be initiated promptly. In some cases percutaneous drainage or surgery is needed. In severe cases even nephrectomy is indicated. In this study, five patients with renal abscess are discussed and literature is reviewe

Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Background Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in childhood. It usually occurs after a prodromal episode of diarrhea and it leads to significant morbidity and mortality during the acute phase. However, cases that start as diarrhea-positive HUS whose renal function fail to recover should be screened for genetic disorders of the complement system, which is called atypical HUS (aHUS). Case-Diagnosis/Treatment We herein report a 10-year-old girl, who initially came with bloody diarrhea and had features of HUS with delayed renal and hematological recovery despite plasma therapy. Eculizumab (600 mg/week) was initiated on day 15 for atypical presentation and later a complement factor I (CFI) mutation was detected. The girl recovered diuresis within 24 h and after the third eculizumab infusion, hemoglobin, platelet, and C3 levels normalized; renal function improved; and proteinuria completely disappeared in 2 weeks. Conclusion It is our belief that eculizumab can be the treatment of choice in children who have plasma exchange-refractory HUS with defective regulation of the alternative complement pathway

Investigation of the Levels of Copper, Iron, Zinc, Selenium and Ratios of Cu/Se, Cu/Zn, Fe/Se, Fe/Zn in Patients with Hashimoto Thyroiditis

Bu çalışmanın amacı, Hashimoto tiroiditi (HT) etiyopatogenezinde selenyum (Se), demir (Fe), çinko (Zn) ve bakır (Cu) eser elementlerinin serum düzeylerindeki ve oranlarındaki değişimlerinin belirlenmesi ve bu parametreler arasındaki olası ilişkinin değerlendirilmesidir. Sakarya Tıp Dergisi, 2018, 8(2):285-291 ) Gereç ve Yöntem Çalışma 35 HT ve 28 sağlıklı birey ile gerçekleştirildi. Çalışmaya dahil edilen tüm bireylere ait serum Se, Zn, Cu ve Fe düzeyleri indüktif eşleşmiş plazma optik emisyon spektrofotometresi ile ölçüldü Bulgular Serum Se, Fe, Cu ve Zn düzeylerinin HT grubunda kontrol grubuna göre anlamlı derecede azaldığı saptandı (sırasıyla p<0,001, p<0,001, p<0,05 ve p<0,001). Cu/Zn ve Cu/Se oranlarının HT grubunda arttığı görüldü (p<0,05). Ayrıca, HT grubunda Cu düzeyleri ile Cu/Zn oranı; Fe/Se ile Cu/Se oranları; Fe/Zn ile Fe/Se oranları; Fe düzeyleri ile Fe/Se ve Fe/Zn oranları arasında pozitif korelasyon olduğu belirlendi (p<0,01). Se düzeyleri Cu/Se ve Fe/Se oranları ile negatif korelasyon gösterdi (p<0,01). Zn düzeyleri de Cu/Zn oranı ile negatif korelasyon göstermiştir (p<0,01). Sonuç Çalışmamızın sonuçları, eser element düzeyleri ve oranlarının HT etiyopatogenezinde yer aldığını göstermektedir. Hastalığın altta yatan mekanizmaları ile eser element ve oranlarının etkileşiminin aydınlatılması için daha ileri çalışmalara ihtiyaç duyulmaktadırObjective Our aim was to investigate relationship of serum selenium(Se), zinc(Zn), copper(Cu) and iron(Fe) levels and ratios of Cu/Se, Cu/Zn, Fe/Se and Fe/Zn with etiopathogenesis of Hashimoto Thyroiditis (HT). ( Sakarya Med J, 2018, 8(2):285-291 ). Materials and Methods Thirty-fi ve patients with HT and 28 healthy controls were included. Serum Se, Fe, Cu and Zn were measured by inductively coupled plasma optical emission spectrometry (ICP-OES) and Cu/Se, Cu/Zn, Fe/Se and Fe/Zn ratios were calculated. Results Serum selenium, iron, copper and zinc levels were signifi cantly decreased in HT patients group (p<0,001, p<0,001, p<0,05 and p<0,001, respectively). However, Cu/Zn and Cu/Se ratios were signifi cantly increased in HT patients (p<0,05). In HT patients, there were positive correlations between Cu and Cu/Zn; between Fe/Se and Cu/Se ratios; between Fe/Zn and Fe/Se ratios (p<0,01). In the same group, Fe levels were also positively correlated with Fe/Se and Fe/Zn ratios (p<0,01). However, Se level was negatively correlated with Cu/Se and Fe/ Se ratios (p<0,01). Additionally, Zn was negatively correlated with Cu/Zn ratio (p<0,01). Conclusion Our results showed that together with trace element levels and ratios were involved in HT etiopathogenesis. Details of mechanisms underlying the disease should be clarifi ed with further studies

Reliability and validity of Turkish version of pregnancy physical activity questionnaire (PPAQ) in patients with gestational diabetes mellitus

Gestational diabetes mellitus (GDM) is a common complication during pregnancy. Evaluation of the quantitative physical activity in diabetic pregnant women is critical. The aim of this study was to test the reliability and validity of the Pregnancy Physical Activity Questionnaire (PPAQ) in Turkish patients with GDM. A total of 120 pregnant women between the ages of 18 and 44 years with GDM were included. The reliability of the questionnaire was measured by internal consistency and analysis of 2-week test-retest reliability. Of the patients, 74 completed the test-retest procedure. Concurrent validity was examined by comparing the PPAQ with the Short Form of the International Physical Activity Questionnaire (IPAQ) in 36 patients. Test-retest intraclass correlation coefficient scores varied between 0.72 and 0.95. The Spearman rank correlation analysis showed that the PPAQ total activity values were statistically significantly correlated with the total values of IPAQ-Short Form (r = 0.410 and p = .030). In conclusion, the Turkish version of the PPAQ is a valid and reliable tool for the measurement of the physical activity level of pregnant women with GDM.Impact statement What is already known on this subject? The pregnancy physical activity questionnaire (PPAQ) developed in 2004 by Chasan-Taber et al.; is a simple and short questionnaire measuring the frequency, duration, and intensity of physical activity in pregnant women. To date, this questionnaire has been translated into many languages and has been used in a number of studies. What do the results of this study add? The aim of this study was to test the reliability and validity of the PPAQ in Turkish pregnant women with GDM. On the basis of our study results, we suggest that the Turkish version of the PPAQ is a valid and reliable tool for the measurement of the physical activity level of pregnant women with GDM. What are the implications of these findings for clinical practice and/or further research? Evaluation of the quantitative physical activity in diabetic pregnant women may contribute to gain a better understanding of the role of physical activity during treatment and may be useful to compare the results of different studies carried out in different places more effectively

Hereditary renal tubular disorders in Turkey: Demographic, clinical, and laboratory features

The Turkish Renal Tubular Disorders Working Group aimed to form a patient registry database and gathered demographic, clinical, and laboratory data in various hereditary renal tubular disorders (HRTDs). A questionnaire comprising HRTDs was sent to the centers. The cohort was composed of 226 patients (109 girls, 117 boys). The distribution of patients according to HRTD was as follows: 45.6% distal renal tubular acidosis (dRTA), 26.6% proximal RTA (pRTA), 3.5% type IV RTA, 21.7% Bartter's syndrome, and 2.6% Gitelman's syndrome. Cystinosis was the most common cause for renal Fanconi syndrome. Age at diagnosis was between 1 month and 16 years. Overall consanguinity rate was as high as 72%. Rate of affected siblings was 28.5%. pRTA and type IV RTA were more common in males. Most common presenting symptoms were failure to thrive, lack of appetite, and vomiting. Nephropathic cystinosis was the most common HRTD leading to renal failure, followed by dRTA. Hearing loss was present in 23% of patients with dRTA and 6.3% of patients with Bartter's syndrome. No other patient had hearing loss. Convulsions were noted in Bartter's syndrome patients with failure to thrive, especially in those with height below 3%. Polyuria and nephrocalcinosis were more common in dRTA patients with deafness compared with patients without deafness. This data reflected a high number of HRTDs as a result of high consanguinity rate in Turkey. Our data serve as a database of demographic, clinical, and laboratory features of this rare disease group