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ÇİÇEK DENİZ, NESLİHAN

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ÇİÇEK DENİZ

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NESLİHAN

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2022 - 20232
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Author: DEMİRCİ BODUR, ECE × Has files: true ×

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    PublicationOpen 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.
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    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.