Tıp Fakültesi / Faculty of Medicine

Permanent URI for this collectionhttps://hdl.handle.net/11727/1403

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2014 - 20162

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Subject: search.filters.subject.Chronic

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    Importance of Neutrophil Gelatinase-Associated Lipocalin in Differential Diagnosis of Acute and Chronic Renal Failure
    (2014) Ozkan, Seda; Durukan, Polat; Kavalci, Cemil; Duman, Ali; Sayhan, Mustafa Burak; Salt, Omer; Ipekci, Afsin; 24764742
    Background: Neutrophil Gelatinase-associated Lipocalin (NGAL) protein is easily detected in the blood and urine soon after acute renal injury NGAL gains features of an early, sensitive and noninvasive biomarker for acute renal injury Recent evidences suggest that its expression is also increased in CRF reflecting the severity of disease. Objectives: In the present study, we aimed to investigate whether blood NGAL level plays a role in the differential diagnosis of acute and chronic renal failure. Patients and Methods: This was a prospective case-control study. Fifty patients presented to emergency department with acute renal failure (ARF), 30 with chronic renal failure (CRF) and 20 healthy individuals as control group were included in this study Blood pH, HCO3(-), BUN, creatinine and potassium values were evaluated in all patients. Blood NGAL values were evaluated in all groups. BUN, serum creatinine and NGAL values were statistically compared between patients and controls. Results: Median NGAL levels in patients was 304.50 (29), and 60 (0) in control, which was statistically significant between the two groups (Z = -6.477, P < 0.001). The median NGAL values were 261.50 +/- 291 in ARF group and 428.50 +/- 294 in CRF group. There was a significant difference in NGAL level between ARF and CRF groups (Z = -2.52, P = 0.012). Median BUN values were 153.46 +/- 82.47 in ARE group and 169.40 +/- 93.94 in CRF group. There was no significant difference in BUN value between ARF and CRF groups (P > 0.05). Median creatinine values were 2.84 +/- 2.95 in ARF group and 4.78 +/- 4.32 in CRF group. In serum creatinine values, a significant difference was found between ARF and CRE groups (P <0.05). Conclusions: Serum NGAL levels of ARE and CRF patients were significantly higher than healthy individuals. In addition, NGAL values of patients with CRF were significantly higher than those of ARE. Serum NGAL values can be used to detect renal injury and differentiate ARE and CRE
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    p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease
    (2016) Ozelsancak, Ruya; Uyar, Bulent; 27156739
    Patient: Male, 39 Final Diagnosis: Fabry disease Symptoms: - Acropareshesia . fatique Medication: - Clinical Procedure: Gene analysis Specialty: Metabolic Disorders and Diabetics Objective: Rare disease Background: Fabry disease is an X-linked disorder. Due to deficiency of the enzyme a-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. Case Report: We report a case of Fabry disease with a p. R301X (c. 901 C> T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband's mother, sister, and daughter had the same mutation with different phenotypes. Levels of a-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated. Conclusions: Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease.