Fatih Akın

Pediatric urolithiasis: metabolic risk factors and follow-up results in a Turkish region with endemic stone disease

AbstractnThe goal of this study was to investigate the metabolic etiology, clinical findings and medical treatment of children with urolithiasis in an endemic region of Turkey. We retrospectively analyzed the medical records of 742 (437 males, 305 females) children with urolithiasis. Physical examination results, serum biochemistry and urine metabolic evaluation, including urinary citrate, oxalate, calcium, uric acid, cystine and magnesium levels were recorded. We obtained follow-up records in 316 patients to evaluate the association between stone recurrence and metabolic risk factors. The mean age at diagnosis was 2.6xa0±xa03.4 (0.1–17.0) years. Male-to-female ratio was 1.4:1. A family history of stone disease was found in 76.5xa0% of patients and 41xa0% of parents had consanguineous marriage. The most common presenting symptoms were urinary tract infection (UTI, 23.9xa0%) and hematuria (23.6xa0%). Metabolic abnormalities were found in 588 (79.2xa0%) patients, including hypercalciuria in 31.5xa0%, hypocitraturia in 24.2xa0%, hyperoxaluria in 11.4xa0%, hyperuricosuria in 9.1xa0%, hypomagnesuria in 3.9xa0%, and cystinuria in 3.1xa0% of patients. The frequency of hyperoxaluria and hypocitraturia were significantly higher in patients with new stone formation. Follow-up records of 316 (42.6xa0%) patients (192 males, 124 females) were available. Urolithiasis was shown in 135 (42.7xa0%) of the patients on control ultrasonography, and 61.5xa0% of these patients had a stone size ≤3xa0mm. Hyperoxaluria and cystinuria were significantly higher in patients with stone persistence. The main goal of management for children with urolithiasis should be identification of risk factors.

Assessment of 25-Hydroxyvitamin D Levels in Patients with Resistant Hypertension.

Objective: To investigate the possible correlation between serum 25-hydroxyvitamin D levels and resistant hypertension (RH). Subjects and Methods: Patients who had undergone ambulatory blood pressure measurements (ABPM) during outpatient controls were enrolled. Fifty subjects with RH, 50 with controlled hypertension (CHT) and 50 normotensive subjects (NT) were included in the study. RH was defined as ‘suboptimal blood pressure control despite using 3 antihypertensive agents including a diuretic or need for 4 or more drugs to control blood pressure. The 25-hydroxyvitamin D and parathormone levels were compared between the groups. Pearsons correlation coefficient test was applied to assess the correlation between 25-hydroxyvitamin D levels and office blood pressure (BP) and ABPM. Logistic regression analysis was used to determine the independent correlates of RH. Results: The 25-hydroxyvitamin D level was significantly lower in the RH group (17.02 ± 5.4 ng/ml) compared to the CHT (24.9 ± 4.8 ng/ml) and NT groups (28.0 ± 5.7 ng/ml, p < 0.001). In univariate correlation analysis, 25-hydroxyvitamin D levels had a significant negative correlation with office systolic BP (r = -0.329, p < 0.001), office diastolic BP (r = -0.395, p < 0.001), systolic ambulatory BP (r = -0.844, p = 0.004), and diastolic ambulatory BP (r = -0.567, p = 0.005). ROC analysis revealed that 25-hydroxyvitamin D levels <21.50 ng/ml predicted the presence of RH with a sensitivity of 78% and a specificity of 79% (AUC = 0.89, 95% CI 0.83-0.94). In the multivariate logistic regression analysis, 25-hydroxyvitamin D level was independently correlated with the presence of RH (β 0.660, 95% CI 0.572-0.760, p < 0.001). Conclusion: There was an independent correlation between lower 25-hydroxyvitamin D levels and presence of RH.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings

Familial 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.

An Unusual Association between Familial Mediterranean Fever and IgM Nephropathy

Objective: 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/mm3, 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/m2/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.

A case of homozygous familial hypercholesterolemia with focal segmental glomerulosclerosis

Familial 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 1xa0cm in size over his knees and sacral region. Laboratory data included cholesterol level of 1,050xa0mg/dl, low density lipoprotein cholesterol (LDL-C) 951xa0mg/dl, high-density lipoprotein cholesterol (HDL-C) 29xa0mg/dl, triglycerides 168xa0mg/dl, total protein 6.3xa0g/dl, and albumin 3.2xa0g/dl. Urinary protein excretion was 78xa0mg/m2 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 1,050xa0mg/dl to 223xa0mg/dl, LDL-C from 951xa0mg/dl to 171xa0mg/dl, and urinary protein excretion from 78xa0mg/m2 per hour to 42xa0mg/m2 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.

Right Ventricular Functions in Pulmonary Thromboembolism

OBJECTIVEnthis is a letter to editor We have read with great interest the paper entitled Subclinical Atherosclerosis in Patients with Prior Pulmonary Thromboembolism Buyukterzi et al.1 is very important study. We have some suggestions about this trial. Firstly there are several echocardiographic parameters are available to determine right ventricular functions. Fractional area change (FAC), tricuspit annular plane systolic excursion (TAPSE), tissue Doppler derived right ventricular systolic excursion velocity S, strain and strain rate are the major determiner of right ventricular systolic functions. Moreover we can evaluate global right ventricular functions with myocardial performance indexes.2 Because of higher intraobserver variability right ventricular size measurement is not the gold standard the assesment of right ventricular functions. We can also determine it with radionuclid anjiography or cardiac magnetic resonance imaging.3 Secondly if right ventricular functions diminishes, left ventricular functions may influence. Left ventricular functions are not detected comprehensive by their. For example tissue Doppler parameters and diastolic dysfunction parameters.4 We wonder the patients characteristics that how many patients had major pulmoary thromboembolism and received thrombolitic treatment. In this study there wasnt detected any inflammatory markers and elevated pressure or volume overload were not detected with brain natriuretic peptide levels or N-terminal brain natriuretic peptide levels.5Materials (Subjects) and Methodsthis is a letter to editorResults: this is a letter to editorConclusion:this is a letter to editor.