Can Hüzmeli

Gitelman's syndrome associated with chondrocalcinosis: a case report.

Abstract Gitelman’s syndrome (GS) is a rare disease with autosomal recessive trait, characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria and hyperkinemic hyperaldosteronism. While muscle weakness, tetany, stomachache, nausea and fever are very common, it could sometimes be completely asymptomatic as is the case in our patient. It is generally benign, but some severe complications like growth retardation and, though rare, paralysis and cardiac arrest could also be seen. A 57-year-old male patient sent to our hospital for further examination because of hypokalemia was diagnosed with GS as a result of clinical and laboratory assessments. Potassium and magnesium replacement was started. We are presenting our case seeing that GS is not a syndrome to be overlooked as it bears a risk of severe complications, although it might be asymptomatic until advanced ages.

Interrupted Aortic Arch in an Adult with Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and is responsible for 8–10% of patients with end-stage renal failure. The major extrarenal complications of ADPKD are cardiovascular abnormalities. Interrupted aortic arch (IAA) is a lethal congenital cardiac abnormality seen with a frequency of 3/1000000 births and is defined as a segment of the arcus aorta being atresic. In the literature, there are no any reports showing that polycystic kidney disease and interrupted aortic arch occur together. In this study, we present a rare case in which the patient has polycystic kidney disease and IAA together and discuss whether IAA is a complication of ADPKD.

Hemolytic Uremic Syndrome: Single Centre Experience

Introduction: Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by non-immune microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. In this study, we aimed to evaluate patients diagnosed with HUS in our clinic. Method: Patients who were diagnosed with HUS as clinic and laboratory between August 2012 and October 2017 were included in our nephrology clinic. Biochemistry, haemogram, ANA, anti-Ds DNA, p-ANCA, c-ANCA, anti-GBM antibody, C3, C4 of patients were studied. In some cases, ADAMTS13 was studied and renal biopsy was performed. The demographic features, clinics, and treatments of our cases were reviewed. Results: A total of 18 patients were enrolled in the study, the average age of the patients was 48.3 (21-82) and 10 of the cases were female and 8 of the cases were male. Among the etiologic causes of HUS in patients; the complement factor B mutation, complement factor H polymorphism, breast cancer, herbal medicine, infections and idiopathic were detected. Primer glomerulonephritis was detected in 6 cases of renal biopsy. Conclusion: Clinical and laboratory remission was obtained in 13 patients. End-stage renal failure developed in 3 of our patients.

Association of vitamin D receptor gene TaqI, FokI and ApaI variants with arteriovenous fistula failure in hemodialysis patients:

Purpose: We investigated the influence of the vitamin D receptor gene TaqI (rs731236), ApaI (rs7975232), and FokI (rs2228570) polymorphisms in arteriovenous fistula failure in hemodialysis patients. Methods: This study was carried out with 54 patients who experienced two or more fistula failures in the late period after arteriovenous fistula operation and 58 control patients with no history of arteriovenous fistula failure in 3 years or longer. The polymerase chain reaction–restriction fragment length polymorphism method was used to determine the vitamin D receptor TaqI, FokI, and ApaI polymorphisms. Results: For vitamin D receptor gene TaqI and Fok1 polymorphisms, no significant association was found between the two groups (p > 0.05). However, a statistically significant association was determined for ApaI polymorphism between the two groups (p = 0.02). In patients, ApaI AA, AC, and CC genotype frequencies were found as 21 (38.9%), 32 (59.3%), and 1 (1.8%), respectively. However, genotype frequencies of AA, AC, and CC in the control group were 29 (50%), 22 (37.9%), and 7 (12.1%), respectively. In all three polymorphisms, no significant difference was found between the two groups in terms of allele frequencies (p > 0.05). Conclusion: Vitamin D receptor ApaI AC genotype may be a possible cardiovascular risk factor for the development of arteriovenous fistula failure.

CMV Infection in Atypical Hemolytic Uremic Syndrome

Cytomegalovirus (CMV) is a DNA virus belonging to herpesviridea family. CMV infections are seen at all age groups all through the world. Its seroprevalence is 50% in developed countries and 40- 100% in developing countries. In seropostive cases, the disease develops as result of reactivation following a treatment with immunosuppressive.Hemolytic uremic syndrome (HUS) is defined by the triad of mechanical hemolytic anemia,thrombocytopenia and renal impairment. Atypical HUS (aHUS) defines non Shigatoxin- HUSand a primary disease due to a disorder in complement alternative pathway regulation.In the present paper, a 60 years old case undergoing plasma exchange for aHUS and found to have CMV pneumonia during follow-up is presented.

Erythropoietin Resistance from Failed Renal Allograft: Case Report

Anemia is one of the most important complications of chronic kidney disease. Erythropoietin (ESA) deficiency is the most common cause of anemia in patients with chronic kidney disease. Resistance to ESA is a common condition in dialyzed patients and is associated with more hospitalizations, increased mortality and frequent blood transfusions. In this paper, we report the diagnosis and treatment of a 52-year-old male dialysis patient with graft intolerance syndrome (GIS) who presented with ESAresistant anemia. key wORDS: Erythropoietin, Anemia, Failed renal allograftBackground: Anemia is a common problem in CKD patients. It is attributed to decreased erythropoietin (EPO) production, low iron stores, and the chronic inflammatory milieu. Therefore, therapy includes not only recombinant EPO, but also irons replenishment. However, the latter induces oxidative stress as well as inflammation. Randomized, controlled studies suggested that L-carnitine supplementation might have positive effects on the response to EPO in long term hemodialysis patients. However, there is no evidence whether this approach is also beneficial in earlier-stage CKD patients. Thus, the present study examined whether L-carnitine prevents IVIR-induced oxidative stress and whether it improves response to EPO.

C3 mesangial proliferative glomerulonephritis initially presenting with atypical hemolytic uremic syndrome: a case report

BackgroundHemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and Coombs-negative hemolytic anemia. In C3 mesangial proliferative glomerulonephritis, an increase in mesangial cell proliferation without thickening in the glomerular capillary wall can be seen under light microscopy, but the definitive diagnosis is made with the immunohistologic demonstration of isolated C3 deposits in the mesangium. C3 glomerulonephritis may be detected in childhood; however, in this case report we describe the first case of isolated C3 glomerulonephritis together with atypical hemolytic uremic syndrome in an adult patient.Case presentationHere we present a case of a 27-year-old white man with anuria who was hospitalized after being diagnosed as having hemolytic uremic syndrome accompanied by acute renal failure. Renal biopsy results revealed C3 glomerulonephritis. There was a complete recovery of renal function after hemodialysis, and prednisolone and plasma exchange treatment.ConclusionsC3 glomerulopathy is distinct from atypical hemolytic uremic syndrome although both diseases are due to abnormal control of the alternative complement pathway. In atypical hemolytic uremic syndrome activation of complement occurs on glomerular or microvascular endothelium causing a thrombotic microangiopathy; in most cases, no electron-dense deposits are seen on electron microscopy and glomerular C3 is not detected on immunofluorescence.

Infrarenal Aorta Thrombosis Associated with H1N1 Influenza A Virus Infection

Influenza viruses are members of the Orthomyxoviridae family, of which influenza A, B, and C viruses constitute three separate genera. Arterial thrombosis associated with H1N1 influenza A virus infection has rarely been reported. A Turkish man aged 28 years was admitted to our emergency department with dyspnea, bilateral lower extremity insensitivity, and cold. He reported symptoms of fever, myalgia, and cough, which he had had for fifteen days before being admitted to our hospital. The patient was tested for pandemic influenza A (H1N1) virus using polymerase chain reaction (PCR) tests, which were positive. Abdominal computerized tomography with contrast revealed a large occlusive thrombus within the infrarenal aorta.

Spontaneous Tumour Lysis Syndrome in a Multiple Myeloma

The tumor lysis syndrome (TLS) is a collection of metabolic abnormalities that occur in consequence of the release of intracellular contents following lysis of tumor cells. TLS occurs spontaneously or after chemotherapy. Spontaneous TLS is uncommon occurrence in multiple myeloma (MM). We define a case of a 70-year-old woman patient who was found to have MM with spontaneous TLS, following a compression fracture of the T-12 vertebrae. While serum uric acid and phosphorous levels were high, low calcium levels were identified. There were also acute kidney injury and metabolic acidosis. Upon the diagnosis of TLS, she was treated with hydration, allopurinol, sodium bicarbonate, and calcium gluconate. The improvement of her laboratory data was observed. We submitted this case in order to draw attention to the presentation of MM with spontaneous TLS.

Glutathione-S-Transferase Variants are not Associated With Increased Carotid Intima-Media Thickness in Turkish Familial Mediterranean Fever Patients

Objectives This study aims to evaluate the carotid intima-media thickness (CIMT) in patients diagnosed with Familial Mediterranean fever (FMF) and investigate whether there is a relationship between glutathione-S-transferase (GST) gene polymorphisms and CIMT. Patients and methods Sixty FMF patients (17 males, 43 females; mean age: 31.43±11.36 years; range 18 to 45 years) and 60 healthy controls (22 males, 38 females; mean age: 29.8±5.82 years; range 18 to 40 years) were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism methods were carried out to assess GST polymorphisms. CIMT was measured by carotid ultrasonography. Biochemical parameters were also evaluated using biochemical methods. Results Right and left CIMT of FMF patients were statistically significantly higher than that of control group (CIMT right p=0.001 and CIMT left: p=0.033). There was no significant association in terms of GST polymorphisms between FMF and control groups. No significant association was observed between GST polymorphisms and CIMT. Low density lipoprotein, erythrocyte sedimentation rate, and fibrinogen levels were significantly higher in the patient group (p<0.05). The difference between groups was not significant in terms of other biochemical parameters (p>0.05). Conclusion Although no significant association was observed between GST polymorphisms and CIMT in FMF patients and controls, CIMT was statistically significantly higher in FMF patients compared to controls.