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Aim: To evaluate left ventricular (LV) diastolic function in children with end-stage renal disease (ESRD) using conventional pulsed-Doppler echocardiography and Doppler tissue imaging (DTI), and to compare the findings with these two modalities. Methods: Twenty-four children with ESRD and 22 healthy age- and sex-matched control subjects were assessed with conventional Doppler echocardiography and DTI. The scans of the renal disease patients were done after a dialysis session. Parameters related to LV systolic and diastolic function were compared in the ESRD and control groups. Results: The ESRD patients had lower mean mitral E/A ratio both according to conventional Doppler echocardiography and TDI than the control subjects. The ESRD group also had significantly longer isovolumetric relaxation time (116±31 ms vs 97±3.1 ms, respectively; p

Aim: To examine the relationship between inflammation criteria and body mass index in otherwise-healthy obese school-children and to evaluate the effect of obesity on renal functions. Methods: Sixty-five otherwise-healthy obese children (median age 10.8 y, range 7.1-16.5 y; median body mass index 26.8 kg/m 2 , range 19.9-38.7 kg/m 2 ) and 20 healthy controls (median age 12.4 y, range 10.1-17.1 y; median body mass index 18.8 kg/m 2 , range 17.3-23.1 I kg/m 2 ) were included. Blood and urine samples were taken from every child. Results: Children in the obese and control groups had similar age and sex distributions (p>0.05). Inflammatory mediators were higher in obese children (p

Objectives Leptin, the Ob gene product, centrally regulates weight control. Transplant recipients are exposed to many factors affecting body mass. Leptin has been reported to activate the peripheral immune system. In this study, we evaluated serum leptin levels and factors contributing to hyperleptinemia; the relationship between serum leptin levels and lymphoid stem and mature cells; and their role in the rejection process in renal transplant recipients. Materials and methods Sixty-three renal transplant recipients were included in the study. Patients were grouped according to serum leptin percentiles as hypoleptinemic ( n = 17), normoleptinemic ( n = 32), and hyperleptinemic ( n = 14). We determined serum leptin levels by radioimmunoassay and absolute number of CD34 + , CD7 + , CD34 + CD7 + lymphoid stem cells, CD4 + and CD8 + lymphocytes in peripheral blood by flow cytometry. Results The hyperleptinemic patients constituted 22.3% of the transplant patient. The mean peripheral blood CD34 + CD7 + lymphocyte count was significantly higher in hyperleptinemic patients than in normo- or hypoleptinemic patients (6.9, 6.1, and 44.3 cells/mm 3 , respectively, P + , CD7 + , CD8 + , and CD4 + lymphocyte count and CD4/CD8 ratio among the groups with respect to serum leptin levels. CD34 + CD7 + lymphocyte count was positively correlated with serum leptin levels ( r = 0.416, P Conclusions Hyperleptinemia is not rare during the posttransplant period. Our data support the results of previous experimental studies that have demonstrated the effect of the leptin hormone on lymphoid stem cells. The central and peripheral effects of leptin may differ on lymphoid stem cells and a serum threshold level may apply for the central effects.

Restless Legs Syndrome (RLS), a common problem increasing morbidity and mortality in hemodialysis (HD) patients, affects 20-30% of uremic patients. Our aim was to find the efficacy of gabapentin in the treatment of RLS in HD patients by comparing a largely used drug, levodopa.Patients with RLS answered three questionnaires (RLS rating scale proposed by IRLSSG, the Short Form (SF)-36 and the Pittsburgh Sleep Quality Index) for the evaluation of severity of RLS, effects on quality of life and quality of sleep.Fifteen patients (4.7%) (5 F, 10 M) with a mean age of 45.8+/-15.3 years got RLS diagnosis. When we compare the two drugs for severity of RLS symptoms relief, the effect of gabapentin was more significant (p0.001). Gabapentin significantly improved general health, body pain and social functions (p0.001). Moreover, regarding sleep parameters, gabapentin was significantly superior to levodopa for sleep quality, sleep latency (p0.001) and sleep disturbance (p0.000).To our knowledge this was the first study comparing gabapentin and levodopa efficacy for the treatment of RLS in HD patients. Our results suggested that gabapentin is an effective drug for the management of RLS in hemodialysis patients.

Neurofibromatosis 1 is an autosomal dominant disorder. Noonan's syndrome is known to be associated with neurofibromatoses. Patients with neurofibromatosis are predisposed to developing malignant tumors. The relationship between the genetic changes in the neurofibromin gene and mechanisms associated with tumor development in neurofibromatosis has been investigated. A nonsense mutation C2446T→R816X of the neurofibromin gene has been detected in some patients with the neurofibromatosis 1—Noonan's syndrome phenotype. We describe a case of an infant with the overlapping features of neurofibromatosis 1 and Noonan's syndrome who presented with rhabdomyosarcoma of the urinary bladder. The genetic analysis of our patient revealed neither mutation in the neurofibromatosis 1—guanosine triphosphatase-activating protein-related domain nor the R816X nonsense mutation. The phenotypic and genotypic features of neurofibromatosis, Noonan's syndrome, and cases with the overlapping features of both syndromes have been reviewed. The presentation of our case underlines the importance of careful examination for the clinical features of neurofibromatosis and phenotypic traits of associated diseases, especially in patients with malignant tumors. ( J Child Neurol 2003; 18: 68—72).

Jeune syndrome is a rare autosomal recessive disease characterized by narrow thoracic cage and short-limbed dwarfism. Seventy percent of affected individuals die in early childhood from pulmonary hypoplasia and respiratory distress due to the small size of the thorax. Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survive the respiratory failure. We report a family that exhibited clinically heterogeneous features of Jeune syndrome. The 6-year-old male proband presented with skeletal deformities and chronic renal failure. A kidney biopsy revealed that nephronophthisis was the cause of the patient's kidney failure, and we diagnosed Jeune syndrome. A retrospective diagnosis of Jeune syndrome was also established for the proband's older sister, who had died of renal failure at 8 years of age. The oldest female child in the family also had thoracic deformity, and the father and paternal uncle were both of short stature and exhibited brachydactyly. Their renal function and blood pressure were normal. The findings in this family are important in that they demonstrate the clinical heterogeneity of Jeune syndrome and underline the association of renal disease with this syndrome.

Cardiovascular disease is one of the most important causes of morbidity and mortality in children with end-stage renal failure. Chronic inflammation and malnutrition have been suggested to be risk factors for cardiovascular disease. However, to date, biomarkers of inflammation have not been well studied in children. The aim of this study was to investigate the relation between chronic inflammation and cardiovascular risk factors in children on hemodialysis therapy. Twenty-seven patients on hemodialysis (14 girls, 13 boys) of mean age 15.3 +/- 2.4 years and 20 healthy children (13 girls, 7 boys) of mean age 14.3 +/- 2.7 years were included the study. C-reactive protein (CRP), albumin, prealbumin, transferrin, ferritin, and fibrinogen were measured as the markers of inflammation. The levels of CRP, ferritin, and erythrocyte sedimentation rate among hemodialysis patients were significantly higher than those of control subjects (P < .001 for all). Albumin and transferrin levels were found to be lower than those of control group (P = .02 and P < .001, respectively). CRP levels were negatively correlated with albumin, prealbumin, apoprotein A1, HDL, and hemoglobin levels, and positively correlated with erythropoietin/Htc ratios. This study suggests that hemodialyzed children are exposed to chronic inflammation. In addition, CRP may be an indicator of chronic inflammation related to cardiovascular risk factors, such as malnutrition, dyslipidemia, and anemia. In conclusion, we suggest that the risk of cardiovascular disease could be reduced by defining markers of chronic inflammation and malnutrition in hemodialyzed children and by taking necessary measures at an early stage.

Leptin plays an important role in regulating appetite and energy expenditure and also functions in the neuroendocrine, hematopoietic, and immune systems, among others. Leptin may be involved in modulating bone mineralization. The relationship between leptin and bone mineral density (BMD) is not clear. This study examined the relationship between BMD and serum leptin levels in renal transplant recipients.Forty-one patients (28 men and 13 women; age 16 to 55 years) were grouped according to percentile of serum leptin level hypoleptinemic (5th percentile, n = 14), normoleptinemic (between the 5th and 95th percentiles, n = 19), or hyperleptinemic (95th percentile, n = 8). The patients also were grouped according to lumbar z score) and total femur z scores (-2 vs-2 for both).The groups with different leptin statuses were compared with respect to age, sex distribution, and body mass index. Mean lumbar z score and mean lumbar BMD were higher in the hyperleptinemic group than in the normo- and hypoleptinemic groups (P.05 for all). Considering the 42 patients overall, those with lumbar z scores-2 had higher mean serum leptin/BMI than those with lumbar z scores-2 (0.55 +/- 0.65 vs 0.18 +/- 0.23, respectively, P.05). Serum leptin/BMI ratio was correlated with lumbar z score (r = .38, P.05) and lumbar BMD (r = .32, P.05).In conclusion, the data indicate that elevated leptin level is associated with increased bone mass at lumbar sites in renal transplant recipients. This suggest that increased leptin has a bone-sparing effect, especially in the lumbar region, in this patient group.

We report on a 7-month-old boy with Micro syndrome who was referred for assessment of mental-motor retardation and reduced vision with cataract. The characteristics of Micro syndrome are mental retardation, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome. Till date, no renal malformations have been reported in Micro syndrome. Our patient had fusion of the lower poles of the kidneys and his left kidney was ectopic. Ocular findings are the most reliable neonatal diagnostic signs of Micro syndrome. Minor anomalies in Micro syndrome may be subtle and therefore not of significant diagnostic value. Micro syndrome is an autosomal recessive trait. Till date, most reported cases have been in individuals of Muslim origin. In countries with high rates of consanguineous marriage, such as Turkey, it is important that physicians be able to recognize this syndrome. Micro syndrome should be considered in any infant with congenital cataract.

CARDIOVASCULAR disease is one of the most frequent causes of death in adults and children with end-stage renal disease (ERSD). Left ventricular (LV) hypertrophy, arterial wall hypertrophy, and carotid artery luminal enlargement are the most common cardiovascular changes in ESRD patients. Alterations in the arterial vessel walls occur during a presumably long subclinical lag phase of endothelial damage in which there is diffuse thickening of the intima. LV hypertrophy results from decreased LV wall stress and increased systemic vascular resistance. In this study, we evaluated the relationship between early structural changes in the carotid arteries and LV in children with ESRD.

Laurence-Moon-Bardet-Biedl syndome is an autosomal recessive condition characterized by retinal dystrophy, obesity, mental retardation, distal limb anomaly, hypogonadism, and renal dysfunction. The symptoms vary among families and even among affected siblings. Certain clinical signs have been used to identify subgroups of patients with this complex condition. Laurence-Moon syndrome as a distinct entity is rare and features paraplegia in the absence of polydactyly or obesity. Bardet-Biedl syndrome is characterized by distal limb anomaly, obesity, and renal involvement, but neurologic symptoms are very unusual. We report a patient exhibiting characteristic features of Bardet-Biedl syndrome in addition to cerebellar vermis hypoplasia and mega cisterna magna. ( J Child Neurol 2002;17:385-387).

Immunoglobulin A (IgA) nephropathy is the most common form of primary glomerulonephritis worldwide, and approximately 20% to 30% of adult patients with the disorder develop chronic renal failure within 20 years. This type of nephropathy is also an important risk factor for chronic renal failure in children. The pathogenesis of IgA nephropathy is still unknown, and treatment remains controversial. Microscopic hematuria and recurrent episodes of macroscopic hematuria are the most common clinical manifestations of this condition in children. This article describes the case of a young girl who presented with steroid-resistant nephrotic syndrome unaccompanied by hematuria. Renal biopsy findings were consistent with IgA nephropathy. The patient's condition was a rare clinical manifestation of IgA nephropathy.

Brachydactyly short-stature hypertension syndrome, also known as hypertension-with-brachydactyly (HTNB) syndrome, is a rare autosomal dominant disorder that was first described by Bilginturan and colleagues in 1973. Many familial cases of HTNB have been reported, but the first sporadic case of this condition was published only recently. This article describes a case of HTNB syndrome in a 16-year-old boy. Although Doppler ultrasonography of the kidneys and renal arteries showed normal findings, magnetic resonance angiography showed an aberrant right posterior inferior cerebellar artery, early bifurcation of the left renal artery, and irregularity and stenosis of the inferior dominant branch of this artery. The patient’s father was in chronic renal failure of which the primary pathology was unknown. We speculate that the described case is the second documented sporadic case of HTNB syndrome. This disorder should be included in the differential diagnosis of patients with short stature and hypertension of unknown aetiology. Such individuals should be carefully examined for brachydactyly and for cerebral–cerebellar and renal vascular malformations.

Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder, affecting ∼1 in 3,500 individuals worldwide. Mutations of the NF1 tumor suppressor gene predispose individuals to a variety of benign and malignant tumors. Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma and is also a rare tumor type in NF1 patients. We report two cases of NF1 with RMS. The first is that of an infant with overlapping phenotypic features of NF1 and Noonan syndrome (NS) who presented with RMS of the bladder. The second infant likewise exhibited NF1 features and was also associated with bladder RMS. DNA samples were extracted from peripheral blood and tumor tissue samples. We performed loss of heterozygosity (LOH) analysis of the NF1 gene by using seven intragenic markers (IVS27AAAT2.1, IVS27EVI-20, IVS27AC24.8, IVS27AC28.4, M98509, IVS27AC33.1, IVS38TG53.0) and one extragenic polymorphic marker (3′NF1). A large deletion was detected in the NF1 gene in the NF1–Noonan syndrome (NF-NS) case associated with RMS.

Acute renal failure (ARF) is a common problem in the neonatal intensive care unit (NICU). In most cases, ARF is associated with a primary condition such as sepsis, metabolic diseases, perinatal asphyxia and/or prematurity. This retrospective study investigated the course of illness, therapeutic interventions, early prognosis and risk factors associated with development of ARF in the neonatal period. A total of 1311 neonates were treated in our NICU during the 42-month study period, and 45 of these babies had ARF. This condition was defined as serum creatinine level above 1.5 mg/dL despite normal maternal renal function. The data collected for each ARF case were contributing condition, cause and clinical course of ARF, gestational age and birth weight, age at the time of diagnosis, treatment, presence of perinatal risk factors and need for mechanical ventilation. The frequency of ARF in the NICU during the study period was 3.4%. Premature newborns constituted 31.1% of the cases. The mean birth weight in the group was 2863 +/- 1082 g, and the mean age at diagnosis was 6.2 +/- 7.4 days. The causes of ARF were categorized as prerenal in 29 patients (64.4%), renal in 14 patients (31.1%) and postrenal in 2 patients (4.4%). Forty-seven percent of the cases were nonoliguric ARF. Asphyxia was the most common condition that contributed to ARF (40.0%), followed by sepsis/metabolic disease (22.2%) and feeding problems (17.8%). Therapeutic interventions were supportive in 77.8% of the cases, and dialysis was required in the other 22.2%. The mortality rate in the 45 ARF cases was 24.4%. Acute renal failure of renal origin, need for dialysis, and need for mechanical ventilation were associated with significantly increased mortality (p

It has been suggested that urinary glycosaminoglycans (GAGs) form a natural defense mechanism against urinary tract infections (UTIs). This study investigated whether urinary GAGs play a role in pediatric UTIs, and whether urinary GAG level can be used to differentiate upper UTI from lower UTI. Forty-one children with UTIs (33 girls and eight boys; mean age 5.4+/-3.7 years) and 46 age- and sex-matched healthy children (35 girls and 11 boys; mean age 6.6+/-3.9 years) were included in the study. Urinary GAG levels were measured at the onset of acute infection and after a 10-day course of antibiotic treatment. Group GAG findings were compared, and comparisons were also made with the patients divided according to sex and according to UTI type (upper versus lower). The mean urinary GAG level in the patient group at the onset of acute infection (pretreatment) was significantly higher than the mean level in the control group (132.2+/-104.8 mg/g vs 42.2+/-27.1 mg/g creatinine, respectively; P0.01). In the patient group, the mean urinary GAG level after antimicrobial therapy was significantly lower than the pretreatment level (75.9+/-52.1 mg/g vs 132.2+/-104.8 mg/g creatinine, respectively; P0.01). However, the mean post-treatment level was still higher than the mean level in the controls ( P0.05). There was no significant difference in urinary GAG levels when patients were categorized as upper versus lower UTI ( P0.05). The study results suggest that GAGs play an important role in the pathogenesis of UTIs in children, and that measurement of urinary GAGs may be a valuable noninvasive method for evaluating UTIs in this patient group. However, this assay cannot be used to differentiate upper UTI from lower UTI in children.

Disturbances of coagulation and fibrinolysis have been reported in patients with chronic uremia. Studies of different coagulation and fibrinolysis parameters in regularly dialyzed patients have yielded conflicting results. Global fibrinolytic capacity (GFC) examines the function of the entire fibrinolytic system. This assay is a sensitive and reliable method for evaluating the fibrinolytic function of plasma in vitro. In this study, GFC was used as a screening test to investigate the effects of two different dialysis modalities on the fibrinolytic system on children on long-term dialysis. Materials and methods: The study included 12 children (age range, 11–20 years; mean age, 15.9±3.3 years) who were undergoing regular hemodialysis (HD) and 12 children (age range, 10–15 years; mean age, 13.1±1.7 years) who were undergoing continuous ambulatory peritoneal dialysis (CAPD). Thirteen healthy age- and sex-matched subjects served as controls. Each sample was investigated for complete blood count and serum levels of C-reactive protein, serum electrolytes, total cholesterol, triglyceride, fibrinogen, total protein and albumin. A GFC assay was also done in each case. Results: The mean GFC in the CAPD group was lower than that in the HD and control groups (p

WOS: 000185416500008 PubMed: 12883976 Amyloidosis (A) related to familial Mediterranean fever (FMF) causes serious morbidity and mortality in children. Our study evaluates serum levels of apolipoprotein (Apo) AI, AII, B, and E and Apo AII/AI ratios as a non-invasive diagnostic tool for amyloidosis in children with FMF and FMF-A. Results were compared with those of patients with childhood nephrotic syndrome (NS) and healthy children (controls). Significantly lower serum levels of Apo AI (90.20+/-28.30 mg/dl) were documented in patients with FMF-A than in all other groups (FMF 126.89+/-51.07 mg/dl, NS 140.38+/-33.73 mg/dl, and controls 134.67+/-12.73 mg/dl) (P0.05). It is concluded that a decreased Apo AI serum level, but not Apo AII/AI ratio, is a useful, non-invasive test for the early diagnosis of FMF-A in children.

Familial Mediterranean Fever (FMF) is a recessive disorder characterised by episodes of fever and neutrophil-mediated serozal inflammation. The FMF gene (MEFV) was recently identified and four common mutations characterised. The aim of this study was to determine the carrier rate in the Turkish population and the mutation frequency in the clinically diagnosed FMF patients. We found a high frequency of carriers in the healthy Turkish population (20%). The distribution of the five most common MEFV mutations among healthy individuals (M694V 3%, M6801 5%, V726A 2%, M6941 0% and E148Q 12%) was significantly different (P < 0.005) from that found in patients (M694V 51.55%, M6801 9.22%, V726A 2.88%, M6941 0.44% and E148Q 3.55%).

Pruritus is a common problem among hemodialysis (HD) patients, and the etiopathogenesis of uremic pruritus is still unclear. This study evaluated the relationships between pruritus and human leukocyte antigen (HLA) types in individuals on HD. Seventy-nine HD patients (32 females and 47 males; mean age: 38.76±14.04 years; age range: 9–70 years) were studied. The HD duration in the group ranged from 9 to 142 months (mean: 52.53±32.48 months). Subjects were assigned to one of two groups, one with pruritus (n=45) and one without pruritus (n=34). Demographic and laboratory parameters were compared in patients with and without pruritus. There were no significant differences between the groups with respect to age, sex, or HD duration. There were also no significant differences in the groups' serum levels of Hb, ferritin, BUN, creatinine, Ca, P, PTH, uric acid, AST, ALT, GGT, total bilirubin and ALP (P>0.05 for all). There were also no differences between the two groups according to the presence of HbsAg and anti-HCV (P>0.05). The frequency of the HLA-B35 allele was significantly higher in the pruritus group than in the group without pruritus (P 0.05). The results of this preliminary study indicate that the HLA-B35 antigen may contribute to pruritus in HD patients. Further studies are needed to clarify the role that the HLA system plays in pruritus in this patient group.

Since the first successful kidney transplant reported by Murray and his colleagues (1) and due to the development of the highly sophisticated field of immunosuppression, many centres throughout the world including the Middle East are now performing successful organ transplantation (2, 3, 4).

Objectives: In this prospective study, the effect of calcitriol therapy on bone mineral density and osteopenia in patients with severe secondary hyperparathyroidism has been investigated. Materials and methods: The study was carried out on 24 chronic dialysis patients consisting of 13 boys and 11 girls, aged between 8–18 years. Patients were divided into 3 groups according to the severity of hyperparathyroidism and therapy regimens. Group I consisted of 5 patients with normal parathormon levels who did not receive calcitriol therapy. In group II and III, there were patients with secondary hyperparathyroidism. Group II consisted of 10 patients receiving oral calcitriol therapy. Group III consisted of 9 patients receiving intravenous (IV) calcitriol. Bone mineral density was measured by dual energy x-ray absorptiometry. Osteopenia was defined as a Z-score worse than −2. Bone mineral density was assessed as baseline and at the end of one year. Results: A significant improvement was observed in Z-score in the group III whereas the mean value of Z-score tended to be worse in group I and it was not significantly different in group II from the initial values. The better Z-score in group III was associated with more effective stabilization of alkaline phosphatase level and bone specific alkaline phosphatases (BAP) concentrations. Conclusion: Significant improvement of Z-score in group III suggested the beneficial role in IV administration of calcitriol in chronic dialysis patients.