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2. Analysis of Turkish Breast Cancer Patients With ATM-Heterozygous Germline Mutation According to Clinicopathological Features.

Author

Ünsal O, Güvercin B, Özet A, and Ergün MA

Abstract

Objective: The ATM gene is one of the most common breast cancer (BC) susceptibility genes after BRCA1/2 and has been shown to be a moderate BC susceptibility gene. The association between ATM germline mutation and clinical features of BC is now unknown. In this article, clinicopathological features of BC patients with ATM germline heterozygous mutation were investigated., Materials and Methods: Patients admitted to the Medical Genetics department of a tertiary hospital between January 2020 and December 2022 were examined. Only invasive BC patients with pathogenic mutation, likely pathogenic mutation, or variants of uncertain significance (VUS) were included in the study., Results: In all, 121 patients were included in the study. The median age at the first cancer diagnosis of the patients was 44 years. Of the total number of patients, 75.2% (91) had the histological subtype of infiltrating ductal carcinoma, and 43% (52) had Luminal B molecular subtype features. At a median follow-up of 16 months, 5.8% (7) of patients developed cancer in the contralateral breast. In addition, 7.4% (9) of the patients developed a second primary cancer during follow-up. When the patients were compared according to ATM variant classification, the localization, histologic types, and molecular subtypes of the BC were not different between all groups (respectively; p =0.68, p =0.65, p= 0.32)., Conclusions: To the best of our knowledge, this is the first publication that evaluates the clinical and pathological characteristics of BC patients with germline heterozygous ATM mutations in the Turkish population. When patients were compared according to variant classifications of ATM mutation, patients' histological and molecular subtypes were similar., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Ünsal et al.)

Published
2023
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3. A case of Sjögren syndrome and anti-neutrophil cytoplasmic antibody-associated vasculitis.

Author

Kaynar K, Güvercin B, Şengör A, and Mungan S

Subjects
Female, Humans, Middle Aged, Antibodies, Antineutrophil Cytoplasmic, Antibodies, Antinuclear, Headache etiology, Nausea etiology, Muscle Weakness etiology, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis complications, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis diagnosis, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis drug therapy, Glomerulonephritis diagnosis, Glomerulonephritis drug therapy, Glomerulonephritis etiology, Sjogren's Syndrome complications, Sjogren's Syndrome diagnosis, Sjogren's Syndrome drug therapy, Proteinuria etiology
Abstract

Sjögren's syndrome (SS) is a rare disease with the highest reported prevalence of 0.01-0.09%. Anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) is another rare auto-immune disease (prevalence of 0.0009-0.01%). The co-occurrence of these two separate clinical entities in one patient might rarely be encountered as an overlap syndrome. Here, we present the case of a 60-year-old female patient who had complaints of headache, nausea, weakness, gritty sensation in her eyes, and dry mouth [unstimulated saliva production of 0.033 mL/minute (normal; >0.1 mL/minute)] with a blood pressure of 190/110 mmHg, hypertensive retinopathy, proteinuric kidney disease, positivity of myeloperoxidase anti-neutrophil cytoplasmic antibodies, anti-Ro-52, anti-Ro, and anti-La antibodies. Pauci-immune crescentic proliferative glomerulonephritis was found in a kidney biopsy and successfully treated with cyclophosphamide and methylprednisolone. The co-occurrence of these diseases was first reported in 1992 by Böttinger et al. Since then, nearly 37 cases of SS and AAV have been reported. By reporting this case of primary SS and AAV, we emphasize the importance of auto-antibody tests in searching for the etiology of patients with proteinuria.

Published
2023
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5. A novel mutation in a patient with familial renal hypouricemia type 2.

Author

Kaynar K, Güvercin B, Şahin M, Turan N, and Açíkyürek F

Subjects
Allantoin, Glucose Transport Proteins, Facilitative genetics, Humans, Mutation, Organic Cation Transport Proteins genetics, Renal Tubular Transport, Inborn Errors, Uric Acid, Urinary Calculi, Acute Kidney Injury genetics, Organic Anion Transporters genetics
Abstract

Introduction: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders. Familial RHUC cases are classified according to the gene affected as type 1 (SLC22A12 gene) and type 2 (SLC2A9). Clinical importance of RHUC entity is mainly determined by emerging of acute kidney injury (AKI) after strenuous exercise and urolithiasis., Case Presentation: Here, we report a case of RHUC with increased fractional excretion of uric acid value of more than 100%, serum uric acid level of nearly zero, and exercise-induced AKI episodes clinically and a new unpublished homozygous (biallelic) mutation of c.1419+2T>G (IVS11+2T>G) in the SLC2A9 gene genetically for the first time to our knowledge., Conclusion: Clinicians should be aware of this rare entity defined as hereditary RHUC in order to provide long term renoprotection by advisements like simple precautions such as avoiding severe exercises., (Copyright © 2021 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.)

Published
2022
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6. A case report of antineutrophil cytoplasmic antibody-associated vasculitis and glomerular immune depositions.

Author

Kaynar K, Güvercin B, Demir S, Mungan S, and Çifçi ET

Abstract

Background: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a systemic disease leading to renal complications of pauci-immune focal and segmental necrotizing crescentic glomerulonephritis (PI-NCGN)., Case Description: We present a 57-year-old female patient with rapidly progressive glomerulonephritis, multiple systemic infections [candidiasis and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)], severe weight loss, arthralgia, positive myeloperoxidase ANCA, acute deterioration of cardiac function and NCGN with heavy deposition of immunoglobulin (Ig) A and complement 3 (C3) in kidney biopsy. After two months of follow-up and appropriate treatments [methylprednisolone (60 mg/day), cyclophosphamide (15 mg/kg)], our patient recovered from multiple life-threatening infections, including candidiasis treated by fluconazole and SARS-CoV-2 treated by methylprednisolone and acute cardiac failure. In addition, she was saved from dialysis despite all poor prognostic factors., Conclusion: AAV might lead to immune complex deposition in kidneys due to different pathogenetic mechanisms like complement activation and immune complex formation, apart from losing tolerance to neutrophil proteins. HIPPOKRATIA 2022, 26 (2):86-88., Competing Interests: Authors declare no conflicts of interests., (Copyright 2022, Hippokratio General Hospital of Thessaloniki.)

Published
2022

10. A novel mutation in a patient with familial renal hypouricemia type 2.

Author

Kaynar K, Güvercin B, Şahin M, Turan N, and Açíkyürek F

Abstract

Introduction: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders. Familial RHUC cases are classified according to the gene affected as type 1 (SLC22A12 gene) and type 2 (SLC2A9). Clinical importance of RHUC entity is mainly determined by emerging of acute kidney injury (AKI) after strenuous exercise and urolithiasis., Case Presentation: Here, we report a case of RHUC with increased fractional excretion of uric acid value of more than 100%, serum uric acid level of nearly zero, and exercise-induced AKI episodes clinically and a new unpublished homozygous (biallelic) mutation of c.1419+2T>G (IVS11+2T>G) in the SLC2A9 gene genetically for the first time to our knowledge., Conclusion: Clinicians should be aware of this rare entity defined as hereditary RHUC in order to provide long term renoprotection by advisements like simple precautions such as avoiding severe exercises., (Copyright © 2021 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.)

Published
2021
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12. Is C1q nephropathy associated with a WDR19 gene mutation? A case report.

Author

Kaynar K, Güvercin B, Güler Ö, Mungan S, and Çağlayan E

Abstract

Background: Even though complement 1q nephropathy (C1qN) was first introduced in 1985, this entity is still unknown and recognized by clinicians due to its rare prevalence (0.2 - 2.5 %) and insufficient emphasis., Description of the Case: A 50-year-old woman was incidentally found to have non-nephrotic proteinuria with a normal glomerular filtration rate. Renal biopsy revealed C1qN with severe fibrosis. The presence of consanguinity and kidney diseases in family members of the patient led to genetic research, and homogenous mutation of c.991G>T (p.G331C) in the WD-repeat domain 19 ( WDR19) gene was found. The same homozygous and heterozygous mutations in the WDR gene were found in the relatives of our patient with kidney diseases. One year of follow-up with methylprednisolone and mycophenolate mofetil treatment resulted in partial remission of the kidney disease., Conclusion: Renal biopsy for patients with non-nephrotic proteinuria without delay is suggested as it might be a surrogate marker of severe injury. Genetic mutations in the WDR19 gene should be searched for C1qN pathogenesis. This is the first adult case report on C1qN from Turkey.HIPPOKRATIA 2021, 25 (2):87-90., (Copyright 2021, Hippokratio General Hospital of Thessaloniki.)

Published
2021

14. Don't forget syphilis in membranous nephropathy before immunosuppressants: Latent syphilis in a patient with proteinuria.

Author

Kaynar K, Güvercin B, Mungan S, and Ulusoy Ş

Subjects
Adult, Glomerulonephritis, Membranous diagnosis, Glomerulonephritis, Membranous pathology, Humans, Male, Proteinuria etiology, Syphilis Serodiagnosis, Syphilis, Latent diagnosis, Syphilis, Latent immunology, Glomerulonephritis, Membranous etiology, Syphilis, Latent complications
Published
2020
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15. In the presence of hypokalemia and hypomagnesemia; remember Gitelman syndrome.

Author

Güvercin B, Kaynar K, Güler Ö, and Kalyoncu M

Abstract

Background: Hypokalemia and hypomagnesemia caused due to renal losses with chloride-resistant metabolic alkalosis in normotensive patients should remind clinicians of the rare inherited tubulopathy, Gitelman syndrome. Its diagnosis is further strengthened by the presence of consanguinity and the absence of kaliuretic medications. A definitive diagnosis should be based on genetic testing., Case Report: We present the cases of three asymptomatic adult patients who were genetically (mutation in the SCL12A3 gene) diagnosed with Gitelman syndrome of different severity and response to therapy in terms of hypokalemia, hypomagnesemia, and metabolic alkalosis., Conclusion: This lifelong disease could cause life-threatening conditions due to the cardiac complications of hypokalemia in some of the affected patients. Therefore, it is necessary to be aware of the appropriate diagnosis and treatment for patients admitted to the clinic with hypokalemia, hypomagnesemia, hypocalciuria, and hyperreninemia. HIPPOKRATIA 2019, 23(4): 175-178., Competing Interests: Authors declare no conflict of interest., (Copyright 2019, Hippokratio General Hospital of Thessaloniki.)

Published
2019

16. The relationship between dermatological findings and serum interleukin 31 and serum uridine diphosphate glucose ceramide glucosyltransferase levels among patients with chronic kidney disease.

Author

Güvercin B, Kaynar K, Arıca DA, Kural BV, Ulusoy Ş, Cansız M, Selçuk LB, Akyüz A, and Kolaylı CC

Abstract

Background: Cutaneous diseases are observed with increasing duration and severity of renal disease in patients with chronic kidney disease (CKD). This study aimed to elucidate dermatological manifestations at different stages of CKD and determine their relationship with interleukin 31 (IL-31), a T-cell cytokine that induces severe pruritus, and uridine diphosphate (UDP)-glucose ceramide glucosyltransferase (UGCG), an enzyme that metabolizes ceramide, which plays an important role in moisturizing epidermis., Methods: In this retrospective cohort study 145 patients with a mean age of 46 ± 17 years were categorized into hemodialysis (group 1), peritoneal dialysis (group 2),  kidney transplant (group 3), CKD (group 4), and healthy control (group 5) groups. Serum IL-31 and  UGCG levels were measured using enzyme-linked immunosorbent assay, and clinical dermatologists evaluated dermatological manifestations., Results: In the overall cohort, pruritus was significantly and inversely correlated with glomerular filtration rate and serum hemoglobin and albumin levels (p <0.005). Additionally, pruritus was significantly more frequent in group 2 than in group 5; and significantly less frequent in group 3 than in groups 1, 2, and 4 (p =0.01). In group 4, the patients with longitudinal nail ridges had significantly higher serum IL-31 levels than those without longitudinal nail ridges in their nails (p =0.02). Furthermore, in group 2, the patients with pruritus had significantly lower UGCG levels than those without pruritus (p =0.045)., Conclusion: IL-31 might play a role in the development of longitudinal nail ridges, whereas UGCG might provide protection from pruritus and xerosis in patients with CKD.  HIPPOKRATIA 2019, 23(2): 75-80., Competing Interests: All authors declare that there are no conflicts of interest related to the study., (Copyright 2019, Hippokratio General Hospital of Thessaloniki.)

Published
2019

17. Do physicians measure patients' blood pressure, and are those measurements reliable?

Author

Ulusoy Ş, Özkan G, Güvercin B, Sökmen Y, and Erdem Y

Subjects
Adult, Aged, Cross-Sectional Studies, Female, Humans, Male, Middle Aged, Blood Pressure Determination statistics & numerical data, Physicians statistics & numerical data
Abstract

To determine how and how often blood pressure (BP) measurement is performed in health institutions. The researchers observed whether or not 84 physicians performed BP measurement. Immediately after BP measurement by the physician, this was repeated by the researchers in a manner compatible with HT guidelines. The physicians' and researchers' BP measurement results were compared. Physicians measured BP in only 37% (427) of 1130 consecutive patient examinations. None of the physicians "BP measurements were fully compatible with the guidelines" BP measurement recommendations. Physicians who performed measurements determined the same SBP and DBP as the researchers in 34.3% of patients. Hypertension was determined in 18.9% of patients in clinics in which BP measurement was not performed by physicians. Not all physicians in our study measured BP, and the great majority of those who did failed to measure it reliably. We think that it is therefore vitally important for physicians across the world to receive regular, repeated, and effective training in the importance of BP measurement and how to perform it correctly.

Published
2018
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