Person: ATA, PINAR
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ATA
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PINAR
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Publication Metadata only Clinical spectrum of cubulin mutations(2022-11-01) ALPAY, HARİKA; DEMİRCİ BODUR, ECE; ALAVANDA, CEREN; YILDIZ, NURDAN; ATA, PINAR; GÖKCE, İBRAHİM; Cicek N., ALPAY H., Guven S., Turkkan O. N. , Polat S., DEMİRCİ BODUR E., ALAVANDA C., YILDIZ N., ATA P., GÖKCE İ.Publication Open Access Clinical and genetic characterization of children with cubilin variants(2022-09-16) GÖKCE, İBRAHİM; ATA, PINAR; ALPAY, HARİKA; GÜVEN, SERÇİN; ALAVANDA, CEREN; ÇİÇEK DENİZ, NESLİHAN; PUL, SERİM; DEMİRCİ BODUR, ECE; YILDIZ, NURDAN; Cicek N., Alpay H., Guven S., Alavanda C., Türkkan Ö. N. , Pul S., Demirci E., Yıldız N., Ata P., Gokce İ.Background Cubilin is one of the receptor proteins responsible for reabsorption of albumin in proximal tubules and is encoded by the CUBN gene. We aimed to evaluate clinical and genetic characterization of six patients with proteinuria who had CUBN mutations. Methods Patients’ characteristics, serum creatinine, albumin, vitamin B12 levels, urine analysis, spot urine protein/creatinine, microalbumin/creatinine, beta-2 microglobulin/creatinine ratios, estimated glomerular fltration rates (eGFR), treatments, kidney biopsies, and genetic analyses were evaluated. Results Six patients (2 female, 4 male) with an incidental finding of proteinuria were evaluated. Mean admission age and follow-up time were 7.3 ± 2.9 and 6.5 ± 5.6 years, respectively. Serum albumin, creatinine, and eGFR were normal; urine analysis revealed no hematuria, and C3, C4, ANA, and anti-DNA were negative; kidney ultrasonography was normal for all patients. Urine protein/creatinine was 0.9± 0.3 mg/mg, and microalbumin was high in all patients. Serum vitamin B12 was low in two patients and normal in four. Kidney biopsy was performed in four patients, three demonstrated normal light microscopy, and there was one focal segmental glomerulosclerosis (FSGS). Genetic tests revealed four homozygous and two compound heterozygous mutations in the C-terminal part of cubilin. All patients had normal eGFR and still had non-nephrotic range proteinuria at last visit. Conclusions CUBN gene mutations should be considered in patients with isolated non-nephrotic range proteinuria and normal kidney function. Diagnosing these patients, who are thought to have a better prognosis, is important in terms of avoiding unnecessary treatment and predicting prognosis. CUBN gene mutations may also present as FSGS which extends the spectrum of renal manifestation of these patients.Publication Open Access Differential diagnosis of classical Bartter syndrome and Gitelman syndrome: Do we need genetic analysis?(MARMARA UNIV, FAC MEDICINE, 2021-10-31) ALAVANDA, CEREN; Guven, Sercin; Gokce, Ibrahim; Alavanda, Ceren; Cicek, Neslihan; Demirci, Ece Bodur; Sak, Mehtap; Pul, Serim; Turkkan, Ozde Nisa; Yildiz, Nurdan; Ata, Pinar; Alpay, HarikaObjective: Classical Bartter syndrome (cBS) and Gitelman syndrome (GS) are genotypically distinct, but there is a phenotypic overlap among these two diseases, which can complicate the accurate diagnosis without genetic analysis. This study aimed to evaluate the correlation between clinical and genetic diagnoses among patients who have genetically defined cBS and GS. Patients and Methods: The study included 18 patients with homozygous/compound heterozygous CLCNKB (NM_000085) (n:10/18) and SLC12A3 (NM_000339) (n:8/18) mutations. Biochemical, clinical and radiological data were collected at presentation and at the last visit. Results: In cBS group age at diagnosis, median plasma potassium and chloride concentrations were significantly lower and median plasma HCO3 and blood pH values were significantly higher. Patients with GS had significantly lower median plasma magnesium concentrations and urinary calcium/creatinine ratio. One child with GS had normocalciuria, two children with cBS had hypocalciuria and hypomagnesemia. Low estimated glomerular filtration rate (eGFR) (ml/dk/1.73m2) and growth failure were more evident in cBS group. In patients with cBS, nine different CLCNKB gene mutations were detected, five of them were novel. Novel mutations were: one nonsense (c.66G>A, p.Trp22*), one missense (c.499G>A, p.Gly167Ser) and three splice-site (c.867-2delA; c.499-2insG; c.19302A>C) mutations. In patients with GS, six different SLC12A3 gene mutations were found. Conclusions: It may not always be possible to clinically distinguish cBS from GS. We suggest to perform a genotypic classification if genetic analysis is possible.Publication Metadata only Genetıc tests ın non-neurogenıc neurogenıc bladder: two sıblıngs wıth ochoa syndrome(2022-11-01) GÖKCE, İBRAHİM; ALAVANDA, CEREN; ŞEKERCİ, ÇAĞRI AKIN; DEMİRCİ BODUR, ECE; YILDIZ, NURDAN; YÜCEL, SELÇUK; ATA, PINAR; ALPAY, HARİKA; Pul S., GÖKCE İ., ALAVANDA C., ŞEKERCİ Ç. A. , DEMİRCİ BODUR E., Turkkan O. N. , Guven S., Cicek N., YILDIZ N., YÜCEL S., et al.