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    A case of homozygous familial hypercholesterolemia with focal segmental glomerulosclerosis
    (SPRINGER, 2007) Elmaci, Ahmet Midhat; Peru, Harun; Akin, Fatih; Akcoren, Zuhal; Caglar, Melda; Ozel, Ahmet
    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 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.
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    A Comparison of Holmium YAG Laser and Electrokinetic Lithotripter in Pediatric Ureteral Stone Treatment
    (KOWSAR CORP, 2017) Gunduz, Metin; Ciftci, Ilhan; Sekmenli, Tamer; Elmaci, Ahmet Midhat; Peru, Harun
    Background: We evaluated endoscopic treatment of ureter stones with a holmium: yttrium-aluminum-garnet laser (Ho: YAG) lithotripter and an electrokinetic lithotripter (EKL) in children. Methods: Patients with ureteral stones, admitted to the pediatric surgery department of our hospital between November 2011 and January 2015, were evaluated retrospectively. Demographic data, initial symptoms, age, sex, stone size, preoperative renal pelvis diameter, use of a jj stent, and complications were recorded. We used a 4.5 Fr semirigid ureterorenoscope with a Ho: YAG lithotripter and an EKL to treat ureteral stones. Results: In patients treated with Ho: YAG lithotripter, a total of 17 ureteroscopic procedures were performed on seven female and six male children having a mean age of 7.62 +/- 4.46 years. Seven of these patients had right, five had left, and one had bilateral ureteral stones, with a mean diameter of 8.96 +/- 3.52 mm. Preoperative pelvis renalis diameter was 16.22 +/- 11.45 mm. A jj stent was used in all patients. Abdominal pain, hematuria, nausea-vomiting, and pollakiuria were the initial symptoms with complications such as hematuria, ureteral damage, infection, and spontaneous jj stent removal. In three cases, fragmentation was not successful and we needed a second session. In the EKL group, a total of 18 ureteroscopic procedures were performed on ten female and six male children with a meanage of 6.81 +/- 3.67 years. Six of these patients had right, eight had left and two had bilateral ureteral stones, with a mean diameter of 8.26 +/- 2.83 mm. Mean preoperative pelvis renalis diameter was 10.18 +/- 2.66 mm. No jj stent was used in these patients. Initial symptoms were abdominal pain, hematuria, nausea-vomiting, vomiting, dysuria, and pain in the costovertebral region, while hematuria was also among the postoperative complication. In two cases, fragmentation was not successful and an extra session was needed. Conclusions: Either of Ho: YAG lithotripter or EKL are effective and can be successfully used in ureteroscopic management of pediatric ureterolithiasis. The complication rate was slightly lower when an EKL was used.
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    Do JJ Stents Increase the Effectiveness of Extracorporeal Shock Wave Lithotripsy for Pediatric Renal Stones?
    (KARGER, 2017) Gunduz, Metin; Sekmenli, Tamer; Ciftci, Ilhan; Elmaci, Ahmet Midhat
    Purpose: We aimed to evaluate the effects of preoperative urinary catheterization in nephrolithiasis treatment with extracorporeal shock wave lithotripsy (SWL). Methods: Patients admitted to the Department of Pediatric Surgery for renal stones between June 2012 and June 2014 were evaluated retrospectively. Patients were divided into 2 groups based on JJ stent placements. Group 1 did not receive JJ stents, while group 2 did. The recorded demographic data for each group included age, gender, stone size, location, sessions, and complications. The Elmed Complit ESWL system was used with 11-13 kV, and 1,000-1,200 shots in patients 2-4 years of age, and 11-14 kV, and 1,000-1,500 shots for patients over 4 years. Results: In group 1, 18 sessions of SWL were performed on 8 female and 2 male children with a mean age of 4.5 (range 2-12) years and stone diameter of 9 (range 7-15) mm. The locations of the renal stones were in the upper pole in 1 patient, 7 in the lower pole, and 2 in the pelvis renalis. Postoperatively, 1 patient had hematuria, 2 had dysuria, and one had a stone in the external urethral meatus. Eighty percent of patients were stone free; there were no fragmentations in 2 patients, and 1 patient discontinued treatment. In group 2, 15 SWL sessions were performed on 5 female and 5 male children aged 4 (range 3-5) and the stone diameter was 9 (range 7-16) mm. The locations of the renal stones were in the upper pole in 6 patients, in the lower pole in 3 patients, and in the ureteropelvic junction in one patient. JJ stents were placed in all patients preoperatively. Postoperatively, 3 patients had hematuria and one had dysuria. At the end of the study, all of the patients were stone free. Statistically, there were no differences in age, gender, stone size, location, and the number of sessions. Conclusions: Our results indicate that SWL without preoperative ureteral stenting is an effective and safe procedure that can be carried out in the pediatric population. Preoperative JJ stenting is unnecessary in patients, especially in those with smaller stone diameters. (C) 2016 S. Karger AG, Basel
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    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings
    (SPRINGER, 2008) Peru, Harun; Akin, Fatih; Elmas, Sefika; Elmaci, Ahmet Midhat; Konrad, Martin
    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.
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    Henoch Schonlein purpura in childhood: clinical analysis of 254 cases over a 3-year period
    (SPRINGER LONDON LTD, 2008) Peru, Harun; Soylemezoglu, Oguz; Bakkaloglu, Sevcan Azime; Elmas, Sefika; Bozkaya, Davut; Elmaci, Ahmet Midhat; Kara, Fatih
    We aimed to evaluate the patients who were diagnosed as Henoch Schonlein purpura (HSP) for disease characteristics and prognosis of those with joint, gastrointestinal (GI), and renal involvement. Two hundred and fifty-four children who were followed up with the diagnosis of HSP in the Pediatric Nephrology Clinics of Meram Medical Faculty of Selcuk University and Medical Faculty of Gazi University between January 2003 and June 2006 were retrospectively evaluated. The clinical follow-up and treatment regimens of patients in whom renal biopsy was performed were evaluated in detail. The study group consisted of 254 children, 147 boys (57.8%) and 107 girls (42.2%), and the ratio of boys to girls was 1.37. The percentages of skin, joint, GI, and renal manifestations were 100%, 66%, 56%, and 30%, respectively. Eight patients had intussusception. Five of them recovered with steroid treatment only while three patients were operated on. Sixty-four patients (44%) with GI involvement had severe disease and were successfully treated with steroids. Renal biopsy was performed in 26 patients. Among those 26 patients, two of them recovered spontaneously within 3 and 4 weeks. Ten patients improved with only steroid treatment while 12 patients recovered with steroid and cyclophosphamide treatment. Two patients were resistant to steroid and cyclophosphamide treatment and were treated with cyclosporine A. We believe that steroid therapy given to the HSP patients with GI manifestations might be helpful to prevent probable complications such as GI bleeding and intussusception. In addition, combined therapy with steroid and cyclophosphamide can usually be an appropriate treatment for patients with nephrotic proteinuria.
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    An unusual association between familial Mediterranean fever and IgM nephropathy
    (KARGER, 2008) Peru, Harun; Elmaci, Ahmet Midhat; Akin, Fatih; Akcoren, Zuhal; Orhan, Diclehan
    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/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.