Radiation exposure of patient and surgeon in minimally invasive kidney stone surgery.

OBJECTIVE: Percutaneous nephrolithotomy (PNL) and retrograde intrarenal surgery (RIRS) are the standard treatments used in the endoscopic treatment of kidney stones depending on the location and the size of the stone. The purpose of the study was to show the radiation exposure difference between the minimally invasive techniques by synchronously measuring the amount of radiation the patients and the surgeon received in each session, which makes our study unique. MATERIALS AND METHODS: This is a prospective study which included 20 patients who underwent PNL, and 45 patients who underwent RIRS in our clinic between June 2014 and October 2014. The surgeries were assessed by dividing them into three steps: step 1: the access sheath or ureter catheter placement, step 2: lithotripsy and collection of fragments, and step 3: DJ catheter or re-entry tube insertion. RESULTS: For the PNL and RIRS groups, mean stone sizes were 30mm (range 16-60), and 12mm (range 7-35); mean fluoroscopy times were 337s (range 200-679), and 37s (range 7-351); and total radiation exposures were 142mBq (44.7 to 221), and 4.4mBq (0.2 to 30) respectively. Fluoroscopy times and radiation exposures at each step were found to be higher in the PNL group compared to the RIRS group. When assessed in itself, the fluoroscopy time and radiation exposure were stable in RIRS, and the radiation exposure was the highest in step 1 and the lowest in step 3 in PNL. When assessed for the 19 PNL patients and the 12 RIRS patients who had stone sizes≥2cm, the fluoroscopy time in step 1, and the radiation exposure in steps 1 and 2 were found to be higher in the PNL group than the RIRS group (P<0.001). CONCLUSION: Although there is need for more prospective randomized studies, RIRS appears to be a viable alternate for PNL because it has short fluoroscopy time and the radiation exposure is low in every step. LEVEL OF EVIDENCE: 4.

Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis.

Primary hyperoxaluria type 1 is a rare autosomal-recessive disease caused by the deficient activity of the liver specific enzyme alanine-glyoxylate aminotransferase. Increased endogenous oxalate production induces severe hyperoxaluria, recurrent urolithiasis, progressive nephrocalcinosis and renal failure. Here we report a 6 month old boy who presented with vomiting and decreased urine volume. He was diagnosed with chronic kidney failure at 4 months of age and peritoneal dialysis was introduced at a local hospital. His parents were third degree cousins and family history revealed 2 maternal cousins who developed end stage renal disease during childhood. When he was admitted to our hospital, laboratory studies were consistent with end stage renal disease, ultrasound showed bilateral massive nephrocalcinosis. As clinical presentation was suggestive for primary hyperoxaluria type 1, plasma oxalate was determined and found extremely elevated. Genetic testing proved diagnosis by showing a disease causing homozygous mutation (AGXT-gene: c.971_972delT). The patient was put on pyridoxine treatment and aggressive dialysis programme. In conclusion; progressive renal failure in infancy with massive nephrocalcinosis, especially if accompanied by consanguinity and family history, should always raise the suspicion of PH type 1. Increased awareness of the disease would help physicians in both treating the patients and guiding the families who have diseased children and plan to have further pregnancies.

The effect of ankaferd to stop bleeding in experimental partial nephrectomy.

AIMS: In kidney surgery, bleeding is one of the most important issues. In partial nephrectomy, as a "blood stopper", we used surgycell and ankaferd which is used traditionally in Turkish medicine. MATERIAL AND METHODS: 24 Wistar-Albino rats were grouped randomly. Laparotomy was performed in the first group, sham group. In the second group, partial nephrectomy was performed to lower-kidney pole and then, serum physiology was given to the lower part of the kidney. In the third group, partial nephrectomy was performed and surgycell was given over the kidney. In the fourth group, partial nephrectomy was performed and then ABS was applied. In all groups, the gauze was weighted on sensitive lift before and after the operation in order to determine the amount of bleeding. After the subjects were left alive for 5 hours, the levels of blood urea, and creatinine and kidney histopathology were evaluated. RESULTS: No meaningful difference between the groups was found as for the levels of blood urea, and creatinine and the kidney histopathology. Bleeding amount was diminished significantly in the group 4, to which ankaferd was applied. CONCLUSION: Ankaferd is a substance which can be used effectively for controlling acute bleeding in kidney surgery (Tab. 2, Ref. 19). Full Text in free PDF www.bmj.sk.

Renal Autotransplantation in a Patient with Bilateral Renal Artery Stenosis Secondary to Takayasu Arteritis.

Involvement of the renal artery is common in Takayasu arteritis. We, herein, present on a patient with Takayasu arteritis causing severe renal failure and a successful auto-transplantation. This case shows that early diagnosis and immediate appropriate interventions are life-saving in patients with Takayasu arteritis. Renal auto-transplantation performed in selected cases increases dialysis-free survival.

Familial Mediterranean fever-associated diseases in children.

BACKGROUND: MEditerranean FeVer (MEFV) gene encodes for the pyrin protein and a mutated pyrin is associated with a prolonged or augmented inflammation. Hence, various diseases were reported to be associated with familial Mediterranean fever (FMF) or carriers of MEFV mutations. However, systematic evaluation of all associated diseases in children with FMF has not been done previously. AIM: The aim of this study was to investigate the frequency and type of FMF-associated diseases in children. DESIGN AND METHODS: Files of FMF patients who had been seen in two reference hospitals in Ankara, in the last two years, were retrospectively evaluated. Patients with FMF and concomitant diseases were included to the study. RESULTS: Among 600 FMF patients, 77 were found to have a concomitant disease (12.8%). Thirty patients (5%) had vasculitis; 21 (3.5%) had juvenile idiopathic artritis (JIA); 7 (1.16%) had inflammatory bowel disease (IBD) and 19 had other diseases including 5 patients with isolated sacroiliitis. Overall, 13 (2.17%) patients had sacroiliitis in our cohort. The most frequent mutation was M694V/M694V (44%) and 81% of the patients had at least one M694V mutation. Majority of the patients (74%) developed associated diseases while they were not receiving colchicine therapy. CONCLUSIONS: Certain inflammatory diseases including vasculitis, chronic arthritis and IBD were more frequently detected in patients with FMF during childhood. M694V mutation is a susceptibility factor for associated diseases. In countries where FMF is prevalent, clinicians dealing with FMF and other inflammatory diseases should be aware of these associations.

Are carriers for MEFV mutations "healthy"?

OBJECTIVE: We aimed to compare whether carriers for the MEFV mutations display an increase or decrease in certain features. We compared the frequency of a number of inflammatory symptoms and diseases in carriers and a control population. METHODS: A questionnaire was designed to be applied to parents of children with FMF and a control group of parents. Clinical features and some diseases including the frequency of febrile episodes, abdominal pain, arthralgia, prophylaxis with penicillin, acute rheumatic fever, rheumatoid arthritis, vasculitis, spondyloarthropathy, urinary tract infection, asthma, allergy, irritable bowel disease, appendectomy and tonsillectomy were inquired. 676 parents of 440 children with FMF were surveyed in this study. Controls (n: 774) were selected as parents of healthy children. RESULTS: The presence of febrile episodes more than four per year, arthralgia, past diagnosis for acute rheumatic fever, rheumatoid arthritis and prophylaxis of penicillin, acute rheumatic fever, and rheumatoid arthritis were significantly higher in asymptomatic parents for the MEFV mutations compared to controls. The frequency of allergy was found to be significantly lower in the asymptomatic parents as compared to controls. There was no significant difference at the frequency of urinary tract infection and tonsillectomy between the parents of the patents and controls. CONCLUSIONS: We suggest that one MEFV mutation may indeed be conferring a heightened inflammation as suggested by the increased frequency in inflammatory symptoms. The carrier status for MEFV mutations seem to be unique, in that they cause an alteration in the state of "health".

The "nutcracker phenomenon" with orthostatic proteinuria: case reports.

The nutcracker phenomenon refers to compression of the left renal vein between the aorta and the superior mesenteric artery. Clinical features are hematuria, abdominal pain, left flank pain, pelvic or scrotal discomfort due to varicocele or ovarian vein syndrome. In this report, 2 patients with orthostatic proteinuria, in whom nutcracker phenomenon was detected as a cause, are presented. One of them had posterior nutcracker with also asymptomatic varicocele that was detected during ultrasonographic examination. Nutcracker phenomenon is a rare but important clinical condition that should be considered in the differential diagnosis of patients with proteinuria and hematuria.

Is the Ala138Gly alteration of MEFV gene important for amyloidosis?

Progressive systemic amyloidosis is the most important complication of familial Mediterranean fever that inevitably leads to chronic renal failure. Initial studies have suggested that the presence of the Met694Val mutation carry a significant risk for the development of amyloidosis. On the contrary, our data revealed that there was no dominance of any MEFV mutation in relation to amyloidosis. The difference between our mutation data and others led us to study a polymorphism in Turkish population that might be a risk factor for the occurrence of amyloidosis. As some of the previously reported exonic polymorphisms in other disease states found to increase the genetic susceptibility, we aimed to study Ala138Gly of the MEFV gene. Our study group consisted of 124 FMF patients, of which 47 had amyloidosis. Eighty-one individuals without any familial history of FMF were included as control group. There was no statistically significant difference between healthy controls and FMF patients for the Ala138Gly polymorphism (p=0.9). However, when FMF/amyloidosis patients (n:47) were taken as another group, the difference was significant (p= 0.01) indicating that the carriers of 138Gly are more prone to amyloidosis [odds ratio 3.1 (CI 95% 1.57-5.75)].

MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.

Familial Mediterranean fever (FMF) is a recessive inherited disorder affecting Sephardic Jews, Arabs, Armenians and Turks. The gene responsible for FMF was recently cloned and several disease-associated mutations have been described. We have evaluated seven MEFV mutations in 460 chromosomes of 230 unrelated patients with FMF living in Turkey, using PCR methods. The M694V allele accounted for 43.5% of the alleles studied and 19.1% of the patients were homozygous. The M680I, V726A and M694I mutations were responsible for 12.0%, 11.1% and 2.8% of the patients respectively. R761H, K695R and E148Q were rarely encountered. Two thirds of the disease alleles were attributed to three common mutations: M694V, M680V and V726A, but only 54% of the patients carried one or two of the three mutations. Adding the four rarer mutations increased these figures to 72% and 60%, respectively. Altogether, 79.6% of the patients bore at least one of the main mutations, and 84.3% carried at least one of the seven mutations studied. The 28 patients suffering also from amyloidosis carried at least one of five mutations, M694V being the most common. These results suggest that the origin of FMF in Turkey is heterogenous, all common mutations are associated with amyloidosis. Further, rapid and accurate molecular diagnosis of FMF is feasible in most cases.

Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients.

We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. No mutation frequency, including that of M694V, was different between the two groups. Family history of amyloidosis and parental consanguinity were noted to be higher in the amyloidosis group. The seven mutations do not appear to be sufficient to explain the development of amyloidosis in Turkish FMF patients. Other genetic factors may be important for this association.

Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome.

OBJECTIVE: Familial Mediterranean fever (FMF) is an autosomal recessive disorder of childhood characterized by attacks of fever and serositis. Renal amyloidosis is the most important complication of the disease that determines the prognosis. METHODS: Forty-eight Turkish FMF patients with amyloidosis who have been followed at the two hospitals in Ankara were included in this study. RESULTS: All patients with amyloidosis had been symptomatic for FMF at the time of the diagnosis (Phenotype I), none had received regular colchicine therapy and all presented with proteinuria. Ten of them had asymptomatic proteinuria; 38 had nephrotic syndrome and 8 of them had renal insufficiency (CRI) as well, at the time of the diagnosis. Regular colchicine therapy was commenced to all of the patients. At the end of observation period of 4.5 +/- 2.23 years (range 2-12 yrs) on treatment, nephrotic syndrome resolved in 13 patients and proteinuria was lost in 5 of them. None but 2 of the patients who were diagnosed at proteinuric stage progressed to end stage renal failure (ESRF). Seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) were systematically investigated in 32 patients. Six of the seven studied mutations were found in these patients and clinical diagnosis was confirmed by mutation analysis in 24 patients. Eight patients were found to have mutations on one of the alleles. CONCLUSION: Amyloidosis is the most serious complication of FMF. Colchicine treatment ameliorates the progression of renal disease in the patients who presented with proteinuria and even with nephrotic syndrome. No correlation between the outcome of the patients with nephrotic syndrome and the degree of proteinuria and/or serum albumin levels at the initiation of treatment were noted. Progression to ESRF seems inevitable despite colchicine therapy after the development of CRI in patients with FMF associated amyloidosis.

Efficacy of transurethral electrovaporization of the prostate with respect to standard transurethral resection.

Transurethral electrovaporization of the prostate (TVP) has been introduced as an alternative to standard transurethral resection of the prostate (TURP) with lesser morbidity. However, the efficacy of this new technique has not been well known. To compare the results of standard TURP and TVP, 76 patients with symptomatic benign prostatic hyperplasia (BFH) were divided into two groups in a randomized clinical trial. Preoperative assessment included AUA Symptom score, maximum flow rates (Qmax), digital rectal examination, serum prostate specific antigen, and transrectal ultrasonography, with biopsy if the patient was randomized to vaporization. Transrectal temperature measurements and the hemoglobin concentration of the irrigation fluid were investigated in all the patients during the procedure. Although the transrectal temperature was higher in the TVP group (0.53-1.27 degrees C; mean 0.83 degrees C), no associated complication were determined. However, blood loss was significantly lesser than with TURP (340 mL v 60 mL). Two patients in the TURP group required blood transfusions, and one had sphincteric incontinence, whereas one postoperative retention, one reoperation with bladder perforation, and one sphincteric incontinence were seen in the TVP group. On the other hand, 12-month follow-up demonstrated that the uroflow rates improved in a similar manner. The Qmax increased in the TURP and TVP groups from 8.8 and 8.3 mL/sec to 19.6 and 17.2 mL/sec, respectively. The mean AUA Symptom Score decreased from 13.7 to 7.9 and 6.1 at 6 and 12 months, respectively. In the TVP group and from 14.6 to 7.3 and 7.0 at 6 and 12 months, respectively, in the TURP group. There were significant differences in the mean catheterization time (P < 0.0001) and hospital stay (P < 0.0001) in favor of TVP. Our results suggest that TVP is a safe and effective alternative treatment for symptomatic BPH.

Colchicine treatment in children with familial Mediterranean fever.

Prophylactic colchicine therapy has been shown to be a safe and effective method of eliminating the attacks and preventing the development of amyloidosis in patients with familial Mediterranean fever (FMF). However, information about effective dosages that control FMF attacks and prevent amyloidosis in childhood is not available. The aim of this study is to determine the 'effective colchicine dose' for children in terms of body weight and surface area. Sixty-two (34 male, 28 female) children with FMF were selected and colchicine treatment was initiated by giving 0.5-1 mg/day to each patient. The dose was gradually increased up to a maximum 2 mg/day in unresponsive patients; mean duration of therapy was 45.6 +/- 35.5 months. When the 'optimal effective dosage' (i.e. the one that reduced the frequency of attacks and ESR, CRP and fibrinogen levels during the attack-free period) was achieved, the optimal effective dose was calculated according to the body weight and body surface area for each patient. Based on these values 'mean colchicine dose' was computed for the study group and values for different age groups were evaluated. Mean colchicine doses according to the body weight and surface area of the whole group were found to be 0.03 +/- 0.02 mg/kg/day and 1.16 +/- 0.45 mg/m(2)/day, respectively. It was shown that children less than 5 years of age might need colchicine doses as high as 0.07 mg/kg/day or 1.9 mg/m(2)/day. These dosages are approximately 2.5-3 times more than the 'mean colchicine dose' for children aged 16-20 years. These results clearly show that small children need higher doses of colchicine in order to control their attacks. Thus, we conclude that colchicine, when given according to body weight or body surface area, would be more effective in childhood.

Familial Mediterranean fever and acute rheumatic fever: a pathogenetic relationship?

The frequency of acute rheumatic fever (ARF) in patients with familial Mediterranean fever (FMF) was documented and the effects of preceding streptococcal infections on the exacerbation of FMF were determined. In the first part of the study, 162 individuals with FMF were investigated for a history of ARF in a retrospective study. In the second part of the study, antistreptolysin-O (ASO) titres were measured in 130 individuals with FMF. Thirty-six patients had an arthritic attack (group A1), 55 patients had a typical FMF attack without arthritis (group A2) and 39 patients were in the attack-free interval (group B) during the investigation. Nine patients with FMF (5.5%) were considered to have ARF and three of them (1.85%) also had rheumatic heart disease. This prevalence of rheumatic heart disease in FMF is higher than that of the normal population (0.65%) reported in Turkey. Elevated ASO titres were found in 75%, 42% and 38% of the patients in groups A1, A2 and B, respectively. These percentages were found to be significantly higher in group A1 than in both groups A2 (p<0.01) and B (p<0.01). We concluded that patients with FMF might be more prone to the late complications of streptococcal infections.

Antistreptococcal response is exaggerated in children with familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autosomal recessive disorder. Although the pathogenesis of the disease is not yet completely understood, enhanced acute-phase responsiveness is considered to be one of the most important mechanisms. The presence of high levels of antistreptolysin O (ASO) antibodies and streptococcus-associated diseases, such as acute poststreptococcal glomerulonephritis (AGN) and acute rheumatic fever (ARF), has been reported in patients with FMF. In order to better understand the effect of FMF on antistreptococcal antibody response, we measured ASO and antideoxyribonuclease B (anti-DNAse B) levels in patients with FMF and compared them with those in healthy controls. The study consisted of two parts. In the first step, antistreptococcal antibody levels were analysed in 44 patients with FMF and 165 healthy children who had no history or clinical evidence of upper respiratory tract infection (URTI) for the last 4 months. In the second step, antistreptococcal antibody levels were measured in 15 patients with FMF and 22 healthy controls in response to documented group A beta-haemolytic streptococcal pharyngitis. In the first part of the study, ASO and anti-DNAse B levels in patients with FMF were found to be significantly higher than those in healthy controls (P<0.001). In the second part, ASO and anti-DNAse B titres were found to be significantly higher in patients with FMF than in controls (P<0.001 and <0.05, respectively) 4 weeks after a positive throat culture. We concluded that patients with FMF have an exaggerated response to streptococcal antigens and might be prone to poststreptococcal non-suppurative complications, such as ARF.

Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome.

The concurrence of ambiguous genitalia, nephropathy and predisposition to Wilms' tumor are characteristics of Denys-Drash syndrome. Some of the reported patients do not express the full spectrum of the syndrome, while the occurrence of nephropathy has become a generally accepted common feature of this syndrome. We report an infant with male pseudohermaphroditism due to partial gonadal dysgenesis and nephropathy without Wilms' tumor but with a Wilms' tumor suppressor gene (WT1) mutation. The high risk of Wilms' tumor mandates regular surveillance and the use of prophylactic bilateral nephrectomy as a treatment is not yet clear.

Ag/AgCl/Cl- coated silver-stripe reference electrode.

This paper introduces a new type of miniaturized coated silver-stripe reference electrode without internal solution for single use and intends to give in detail the method used to prepare a Ag/AgCl/Cl- miniaturized coated silver-stripe reference electrode of a second kind which acts as a half-cell of a sensor system measuring Ca2+ ion activity in human blood as well as the difficulties encountered. The technique described is a cost-effective and time saving method for biomedical measurement.

The correlation between the clinical, laboratory and histopathological features of childhood membranoproliferative glomerulonephritis and response to treatment.

In this study, the clinical, laboratory and histopathological features of 50 children with membranoproliferative glomerulonephritis are reviewed. Age distribution varied from 5 to 15 years. The clinical presentation in the patients was nephrotic syndrome (24%), acute nephritic syndrome (20%) and nephritic/nephrotic syndrome (56%). Hypertension, macroscopic hematuria and hypocomplementemia were present in 40 percent, 58 percent and 34 percent of the patients, respectively. Light microscopic findings were as follows: glomerular lobulation (36%), mesangial sclerosis (20%), tubulointerstitial findings (36%), and crescents (26%). C3 (93%) was the most common immunofluorescence and IgM (86%), the most frequently encountered immunoglobulin. Response to treatment could not be anticipated by the initial clinical and laboratory features. Patients who did not have tubulointerstitial changes tended to have a greater response to therapy.

Fibromuscular dysplasia of the renal arteries treated with percutaneous transluminal renal angioplasty: a case report.

A nine-year-old girl with renovascular hypertension is presented. The diagnosis of fibromuscular dysplasia was established by selective renal angiography, and percutaneous transluminal renal angioplasty was performed. After successful dilation, the blood pressure returned to normal. The patient has been followed for a year and there is no evidence of hypertension.