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Öğe A case of homozygous familial hypercholesterolemia with focal segmental glomerulosclerosis(SPRINGER, 2007) Elmaci, Ahmet Midhat; Peru, Harun; Akin, Fatih; Akcoren, Zuhal; Caglar, Melda; Ozel, AhmetFamilial hypercholesterolemia (FH) is a common autosomal dominant inherited disorder characterized by increased levels of circulating plasma low-density lipoprotein cholesterol (LDL-C), tendon xanthomas, and premature atherosclerotic cardiovascular disease. Homozygous FH occurs in only one in a million people. Focal segmental glomerulosclerosis (FSGS) is clinically characterized by proteinuria, which is marked in the majority of cases and accompanied by nephrotic syndrome, high incidence of hypertension, and progression to renal failure. To our knowledge, we herein report for the first time a case of homozygous FH associated with FSGS. A seven-and-a-half-year-old boy was referred to our hospital due to cutaneous xanthomata and growth retardation. He had multiple nodular yellowish cutaneous xanthomatous lesions each 1 cm in size over his knees and sacral region. Laboratory data included cholesterol level of 1,050 mg/dl, low density lipoprotein cholesterol (LDL-C) 951 mg/dl, high-density lipoprotein cholesterol (HDL-C) 29 mg/dl, triglycerides 168 mg/dl, total protein 6.3 g/dl, and albumin 3.2 g/dl. Urinary protein excretion was 78 mg/m(2) per hour. A percutaneous renal biopsy was performed, and histological findings showed FSGS. Treatment with cholestyramine and atorvastatin was unsuccessful in terms of lowering lipids, and he was placed on weekly sessions of plasmapheresis. Total cholesterol was reduced from 1,050 mg/dl to 223 mg/dl, LDL-C from 951 mg/dl to 171 mg/dl, and urinary protein excretion from 78 mg/m(2) per hour to 42 mg/m(2) stop per hour after eight sessions of plasmapheresis. It is our belief that plasmapheresis is a treatment of choice in patients with FSGS associated with FH.Öğe Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings(SPRINGER, 2008) Peru, Harun; Akin, Fatih; Elmas, Sefika; Elmaci, Ahmet Midhat; Konrad, MartinFamilial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle. This disease is caused by mutations in the claudin-16 gene (CLDN16), which encodes the tight junction protein, claudin-16. Claudin-16 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe.Öğe Is Asymmetric Dimethylarginine a Useful Biomarker in Children With Carbon Monoxide Poisoning?(LIPPINCOTT WILLIAMS & WILKINS, 2019) Yazar, Abdullah; Akin, Fatih; Sert, Ahmet; Ture, Esra; Topcu, Cemile; Yorulmaz, Alaaddin; Ercan, FatihObjective Carbon monoxide poisoning (COP) is the leading cause of mortality and morbidity due to poisoning worldwide. Because children are affected more quick and severely from COP, they may require a longer treatment period, even if carboxyhemoglobin (CO-Hb) and/or lactate levels return to normal. Therefore, a new marker that predicts the duration of treatment and the final outcomes of COP is needed. Methods This case control study was conducted on 32 carbon monoxide-poisoned patients younger than 18 years who had been admitted to pediatric emergency department. The control group included age- and sex-matched 30 healthy children. Blood samples were obtained for analysis of arterial blood gases, CO-Hb percent, methemoglobine, lactate, and asymmetric dimethylarginine (ADMA). Results Asymmetric dimethylarginine levels were significantly increased (P < 0.05) in patients with COP on admission and after the treatment when compared with controls (1.36 [0.89-6.94], 1.69 [0.76-7.81], 1.21 [0.73-3.18] nmol/L, respectively). There was no positive correlation between CO-Hb and ADMA levels on admission and at 6 hours (P = 0.903, r = 0.218, P = 0.231, r = 0.022, respectively). Positive correlation was found between lactate and CO-Hb levels on admission (P = 0.018, r = 0.423). Conclusions This study showed that ADMA levels were still high after 6 hours of 100% oxygen therapy in children with COP, even CO-Hb and/or lactate levels return to normal range. On the basis of these results, we consider that ADMA may be a useful biomarker in patient with COP.Öğe P-Wave Dispersion in Children With Acute Rheumatic Fever(SPRINGER, 2012) Kocaoglu, Celebi; Sert, Ahmet; Aypar, Ebru; Oran, Bulent; Odabas, Dursun; Arslan, Derya; Akin, FatihAs a new and simple electrocardiographic marker, P-wave dispersion is reported to be associated with inhomogeneous and discontinuous propagation of sinus impulses. The current study aimed to investigate P-wave dispersion in children with acute rheumatic fever. The study population consisted of 47 children with acute rheumatic fever (29 patients with carditis and 18 patients without carditis) and 31 healthy control subjects. Maximum and minimum P-wave durations were measured from the 12-lead surface electrocardiogram. The P-wave dispersion was calculated as the difference between maximum and minimum P-wave durations. The maximum P-wave duration and the P-wave dispersion of the patients with and without carditis were significantly greater than those of the control subjects. The P-wave dispersion of the patients with carditis was significantly greater than that of the patients without carditis. In conclusion, the P-wave dispersion was higher in the children with acute rheumatic fever than in the healthy control subjects.Öğe An unusual association between familial Mediterranean fever and IgM nephropathy(KARGER, 2008) Peru, Harun; Elmaci, Ahmet Midhat; Akin, Fatih; Akcoren, Zuhal; Orhan, DiclehanObjective: To report a case with the diagnosis of IgM nephropathy and familial Mediterranean fever (FMF). Clinical Presentation and Intervention: A 9-year-old boy was admitted to our hospital with recurrent abdominal pain since the age of 4 years. Laboratory investigations revealed a sedimentation rate of 88 mm/h, C-reactive protein: 83.2 mg/l (0-10 mg/l), white blood cell count: 12,700/mm(3), fibrinogen: 622 mg/dl (200-400 mg/dl) and serum amyloid A: 186 mg/l (0-5.8 mg/l). Urinalysis revealed +2 proteinuria. A 24-hour urinary protein excretion was 12 mg/m(2)/h. M694V homozygous mutation was identified in exon 10. Percutaneous renal biopsy showed mesangial cell proliferation and increased mesangial matrix in the glomeruli, without amyloid accumulation. Immunofluorescence study showed IgM (+1) and C1q (+1) deposits. Treatment with 1 mg/day colchicine was started. Six weeks later, proteinuria had disappeared and the patient was asymptomatic. Conclusion: This case illustrates the unusual association of FMF with non-amyloid glomerulopathy. Glomerular diseases such as IgM nephropathy may be seen as a manifestation of FMF. Copyright (C) 2008 S. Karger AG, Basel.Öğe Vitamin B-12 Levels of Subjects Aged 0-24 Year(s) in Konya, Turkey(BMC, 2014) Akin, Fatih; Yavuz, Haluk; Bodur, Said; Kiyici, AyselResearch reports indicate that vitamin B-12 levels show racial differences, which suggests that using the reference ranges of varied populations may lead to inaccurate results. This study aimed to determine normal serum levels of vitamin B-12 among children and young people in the Konya region of Turkey. It evaluated 1,109 samples; 54 were from cord-blood and 1,055 were from healthy subjects aged 0-24 year(s), who were admitted to primary healthcare centres. The normal reference levels obtained for vitamin B-12 at 2.5-97.5 percentile (P-2.5-P-97.5) range were 127-606 pg/mL for girls, 127-576 pg/mL for boys, and 127-590 pg/mL for the entire study group. The reported reference values for vitamin B-12 in other studies were higher than the current results. Vitamin B-12 levels vary from country to country; comparisons between countries may not be valid, and normal levels for each population should be obtained.
