Dyspnea and Generalized Paresthesias Due to a Rare Metabolic Disorder: Severe Hypophosphatemia

We present a patient with severe hypophosphatemia related hypoxic respiratory failure resolving with phosphate replacement. [Med-Science 2016; 5(2.000): 747-50

Kikuchi-Fujimoto Disease as a Cause of Fever of Unknown Origin: A Case Report

Histiocytic necrotizing lymphadenitis also known as Kikuchi-Fujimoto disease (KFD) is a benign, rare and self-limiting disease. A thirty-six years old woman had high fever and cervical and axillary lymphadenopathy for three months. Her symptoms prompted antibiotic therapy failure and extensive evaluations of fever of unknown origin (FUO). At admission there were several enlarged cervical and axillary lymph nodes and fever of 40°C. Laboratory findings and imaging studies did not show an infectious, rheumatologic or hematologic cause of her symptoms. Histopathological examination of an excisional lymph node biopsy revealed histiocytic necrotizing lymphadenitis as the underlying disease. After spontaneous resolution without specific therapy the patient is now symptomless 12 months after diagnosis. KFD which presents with fever and lymphadenopathy, should be considered in differential diagnosis of FUO. Physicians should be aware of this uncommon entity since early histologic recognition will minimize unnecessary evaluations and treatments

Asymptomatic kindred of patients with coronary events have increased peripheral T-cell activities

KISA, Ucler/0000-0002-8131-6810; Sonmez, Alper/0000-0002-9309-7715; Turan, Mustafa/0000-0003-4782-8596WOS: 000239297400006PubMed: 16865300T cells are involved in the pathogenesis of atherosclerosis. We aimed to search for any association between the peripheral T-cell activities and atherogenic risk factors in healthy subjects. Fifty male volunteers (age 22.0 +/- 2.4 years) were enrolled. No subject had any chronic disease or was under any drug treatment. Lymphocytes were isolated from heparinized venous blood and the proliferative responses to phytohemagglutinin (PHA) were measured from the amount of radioactive thymidine uptake by the lymphocyte DNA. T-cell activity responses of patients with a family history of coronary events were compared with others. The activity responses of smokers were compared with nonsmokers. Subjects with a positive family history of coronary events had higher PHA stimulated T-cell response and delta cpm (P < 0.05 for each). Total and low-density lipoprotein cholesterol levels of the subjects with a positive family history of cardiovascular events were positively correlated with the PHA-activated T-cell responses (P = 0.022, r = 0.604 and P = 0.015, r = 0.635, respectively). There was no significant difference between the T-cell activity responses of smokers and nonsmokers. No correlation was found between the biochemical parameters and T-cell activities in these groups. Peripheral T-cell activity responses to PHA are higher in the asymptomatic relatives of patients with coronary events. This may be a clue for the familial tendency of atherosclerotic diseases. Further follow-up studies are necessary to investigate the relationship

The Relationship between Hemoglobin Levels and Endothelial Functions in Diabetes Mellitus

Background and objectives: Hemoglobin (Hb) is the main carrier and buffer of nitric oxide. Evidence has been produced that Hb concentration is inversely related with endothelial function in human diseases. Testing whether this association exists also in diabetic patients stage 1 to 2 chronic kidney disease (CKD) is important because anemia in these patients starts at an earlier stage than in other renal diseases. The relationship was investigated between Hb and flow-mediated dilation (FMD) levels of the patients with diabetic nephropathy in a cross-sectional design

Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes. Objective: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. Methods: All Tx and dialysis patients were screened regardless of the presence of a primary disease. We measured the AGALA activity in all male patients as initial analysis. Mutation analysis was performed in male patients with decreased AGALA activity and in female patients as the initial diagnostic assay. Results: We screened 5,657 patients. A total of 17 mutations were identified. No significant difference was observed between the groups regarding the prevalence of patients with mutation. We found FD even in patients with presumed primary kidney diseases. Seventy-one relatives were analyzed and mutation was detected in 43 of them. We detected a patient with a new, unknown mutation (p.Cys223) in the GLA gene. Conclusions: There are important implications of the screening. First, detection of the undiagnosed patients leads to starting appropriate therapies for these patients. Second, the transmission of the disease to future generations may be prevented by prenatal screening after appropriate genetic counseling. In conclusion, we suggest screening of kidney Tx candidates for FD, regardless of etiologies of chronic kidney disease. (C) 2019 S. Karger AG, Base

Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes. Objective: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. Methods: All Tx and dialysis patients were screened regardless of the presence of a primary disease. We measured the AGALA activity in all male patients as initial analysis. Mutation analysis was performed in male patients with decreased AGALA activity and in female patients as the initial diagnostic assay. Results: We screened 5,657 patients. A total of 17 mutations were identified. No significant difference was observed between the groups regarding the prevalence of patients with mutation. We found FD even in patients with presumed primary kidney diseases. Seventy-one relatives were analyzed and mutation was detected in 43 of them. We detected a patient with a new, unknown mutation (p.Cys223) in the GLA gene. Conclusions: There are important implications of the screening. First, detection of the undiagnosed patients leads to starting appropriate therapies for these patients. Second, the transmission of the disease to future generations may be prevented by prenatal screening after appropriate genetic counseling. In conclusion, we suggest screening of kidney Tx candidates for FD, regardless of etiologies of chronic kidney disease. (C) 2019 S. Karger AG, BaselC1 [Yalin, Serkan Feyyaz; Senates, Banu Erkalma; Oruc, Meric; Altiparmak, Mehmet Riza; Seyahi, Nurhan] Istanbul Univ Cerrahpasa, Cerrahpasa Med Fac, Dept Nephrol, Istanbul, Turkey.[Eren, Necmi] Kocaeli Univ, Dept Nephrol, Med Fac, Kocaeli, Turkey.[Sinangil, Ayse; Ecder, Tevfik] Bilim Univ, Dept Nephrol, Med Fac Med, Istanbul, Turkey.[Yilmaz, Vural Taner; Kocak, Huseyin] Akdeniz Univ, Div Nephrol, Med Fac, Antalya, Turkey.[Tatar, Erhan; Uslu, Adam] Bozyaka Training & Res Hosp, Dept Nephrol, Izmir, Turkey.[Ucarf, Ali Riza; Demir, Erol; Caliskan, Yasar; Turkmen, Aydin] Istanbul Univ, Fac Med, Div Nephrol, Istanbul, Turkey.[Sevinc, Mustafa; Basturk, Taner] Sisli Hamidiye Etfal Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Can, Ozgur; Ogutmen, Melike Betul] Haydarpasa Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Gurkan, Alp; Kinalp, Can] Medicana, Dept Nephrol, Istanbul, Turkey.[Arik, Nurol] Ondokuz Mayis Univ, Dept Nephrol, Med Fac, Samsun, Turkey.[Ecder, Sabahat Alisir] Medeniyet Univ, Div Nephrol, Goztepe Training & Res Hosp, Istanbul, Turkey.[Uyar, Murathan] Gaziosmanpasa Hosp, Dept Nephrol, Istanbul, Turkey.[Yasar, Murat; Dursun, Belda] Pamukkale Univ, Dept Nephrol, Med Fac, Denizli, Turkey.[Gulcicek, Sibel] Istanbul Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Mese, Meral; Bahcebasi, Zerrin Bicik] Dr Lufti Kirdar Kartal Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Dheir, Hamad; Sipahi, Savas; Genc, Ahmed] Sakarya Univ, Dept Nephrol, Tip Med Fac, Sakarya, Turkey.[Cakir, Ulkem] Acibadem Univ, Dept Nephrol, Med Fac, Istanbul, Turkey.[Cevher, Simal Koksal; Dede, Fatih] Ankara Numune Training & Res Hosp, Dept Nephrol, Ankara, Turkey.[Turkmen, Kultigin] Necmettin Erbakan Univ, Div Nephrol, Meram Med Fac, Konya, Turkey.[Guven, Bahtisen] Bahcesehir Univ, Dept Nephrol, Med Fac, Istanbul, Turkey.[Taymez, Dilek Guven] Kocaeli State Hosp, Dept Nephrol, Kocaeli, Turkey.[Yelken, Berna] Mem Hosp, Dept Nephrol, Istanbul, Turkey

Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

PMID = 3073911