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SAK, MEHTAP

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SAK

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MEHTAP

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Now showing 1 - 6 of 6
  • PublicationOpen Access
    Is renal abscess still a problem?
    (MARMARA UNIV, FAC MEDICINE, 2021-01-26) ALPAY, HARİKA; Sak, Mehtap; Gokce, Ibrahim; Cicek, Neslihan; Guven, Sercin; Ergelen, Rabia; Yildiz, Nurdan; Alpay, Harika
    Renal abscess, the accumulation of infected fluid in the kidney, is a rare condition seen in children as well as adults. It leads to long term hospital admission and antibiotic use. Early diagnosis is an important factor in the outcome of renal abscess because the management may differ. Urinalysis test results and radiologic imaging findings of the patients who are admitted to hospital with complaints of fever, vomiting, abdominal pain or flank pain are important for the early diagnosis. Undertreated cases have high risk for renal scar formation. In this paper, we aim to present three pediatric patients, who showed the complication of renal abscess and were treated with long term antibiotic use without a need for surgical drainage.
  • Publication
    An unusual disease mimicking congenital nephrotic syndrome: Answers
    (SPRINGER, 2021) ALPAY, HARİKA; Yildiz, Nurdan; Sak, Mehtap; Inanir, Sabahat; Akkelle, Bilge Sahin; Alpay, Harika
  • PublicationOpen Access
    Catastrophic antiphospholipid syndrome accompanied by complement regulatory gene mutation
    (2023-03-01) GÖKCE, İBRAHİM; DEMİRCİ BODUR, ECE; ÇİÇEK DENİZ, NESLİHAN; SAK, MEHTAP; FİLİNTE, DENİZ; ALPAY, HARİKA; Pul S., GÖKCE İ., DEMİRCİ BODUR E., Guven S., ÇİÇEK N., SAK M., Turkkan O. N., FİLİNTE D., Pehlivanoglu C., Sozeri B., et al.
    Background. Antiphospholipid syndrome (APS), particularly the catastrophic antiphospholipid syndrome (CAPS), is one of the rare causes of thrombotic microangiopathy (TMA). CAPS is the most severe form of APS, especially when accompanied by complement dysregulation, causes progressive microvascular thrombosis and failure in multiple organs. In this report, a case of CAPS with TMA accompanied by a genetic defect in the complement system is presented.Case. A 13-year-old girl was admitted to the hospital with oliguric acute kidney injury, nephrotic range proteinuria, Coombs positive hemolysis, refractory thrombocytopenia, a low serum complement C3 level and anti-nuclear antibody (ANA) positivity. The kidney biopsy was consistent with TMA. She was first diagnosed with primary APS with clinical and pathological findings and double antibody positivity. As initial treatments, plasmapheresis (PE) was performed and eculizumab was also administered following pulse -steroid and intravenous immunoglobulin treatments. Her renal functions recovered and she was followed up with mycophenolate mofetil, hydroxychloroquine, low dose prednisolone and low molecular weight heparin treatments. The patient presented with severe chest pain, vomiting and acute deterioration of renal functions a few months after the diagnosis of TMA. A CAPS attack was considered due to radiological findings consistent with multiple organ thrombosis and intravenous cyclophosphamide (CYC) was given subsequent to PE. After pulse CYC and PE treatments, her renal functions recovered, she is still being followed for stage-3 chronic kidney disease. Complement factor H-related protein I gene deletion was detected in the genetic study.Conclusions. The clinical course of complement mediated CAPS tends to be worse. Complement system dysregulation should be investigated in all CAPS patients, and eculizumab treatment should be kept in mind if detected.
  • Publication
    An unusual disease mimicking congenital nephrotic syndrome: Questions
    (SPRINGER, 2021) ALPAY, HARİKA; Yildiz, Nurdan; Sak, Mehtap; Inanir, Sabahat; Akkelle, Bilge Sahin; Alpay, Harika
  • PublicationOpen 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, Harika
    Objective: 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.
  • PublicationOpen Access
    Renal Artery Stenosis Presenting with Resistant Hypertension in Children and Adolescents: A Report of Five Cases
    (AVES, 2020-06-24) BALTACIOĞLU, FEYYAZ; Sak, Mehtap; Gokce, Ibrahim; Cicek, Neslihan; Yildiz, Nurdan; Baltacioglu, Feyyaz; Alpay, Harika
    We aimed to present five patients presenting with hypertension and diagnosed as renal artery stenosis. Five patients with renal artery stenosis were studied retrospectively. Two of our cases were diagnosed as fibromuscular dysplasia, other cases were diagnosed as Takayasu arteritis and Moyamoya disease, and one of them had congenital vascular abnormality. Renovascular hypertension is one of the most important causes of secondary hypertension in children, and renal artery stenosis constitutes a significant proportion of renovascular disease. We must consider renal artery stenosis in children presenting with resistant hypertension.