Leptin and plasminogen activator inhibitor-1 levels in children on chronic dialysis.

PURPOSE: In this study, it is aimed to compare the serum leptin and PAI-1 levels and evaluate their relationship in children on hemodialysis (HD) and peritoneal dialysis (PD). METHOD: Thirty-six patients on HD (mean age: 15.0 ± 2.8 years), 19 patients on PD (mean age: 13.0 ± 3.5 years) and 15 healthy subjects (mean age: 14.5 ± 2.7 years) were included in the study. Laboratory investigations included blood count, biochemical parameters, serum iron, iron binding capacity, parathormone, erythrocyte sedimentation rate, C-reactive protein (CRP), prothrombin time (PT), partial thromboplastin time (PTT), fibrinogen, serum leptin and PAI-1 levels. RESULTS: Serum leptin levels were significantly higher in HD group than in control group when the effects of BMI and sex were controlled, while PD and control groups had similar leptin levels. PAI-1 levels were also significantly higher in HD group than in control group, while there was no statistically significant difference in PAI-1 levels of PD and control group. PAI-1 levels and leptin levels were significantly correlated, which was independent of the effect of BMI in both HD and PD groups when they are evaluated separately. CONCLUSION: Results of our study showed that HD patients had higher leptin and PAI-1 levels and leptin and PAI-1 levels were correlated significantly in both patient groups. The effect of elevated serum leptin and PAI-1 levels on the cardiovascular complications remains to be established.

Assessment of cardiac functions using tissue Doppler imaging in children with familial Mediterranean fever.

OBJECTIVE: Familial Mediterranean fever may carry a potential for cardiovascular disorders because of sustained inflammation during its course; however, there has been a limited number of studies investigating the cardiac functions in children. The aim of this study was to assess both ventricular diastolic functions using conventional echocardiography and tissue Doppler imaging in children with familial Mediterranean fever. PATIENTS AND METHODS: The study population included 25 patients with familial Mediterranean fever - mean age was 11.8 plus or minus 5.30 years - and 23 healthy patients as controls - mean age was 9.88 plus or minus 3.69 years. Both ventricular functions were measured using echocardiography comprising standard M-mode and conventional Doppler and tissue Doppler imaging during an attack-free period. RESULTS: The conventional echocardiographic parameters with myocardial performance index were in normal ranges and similar in patients with familial Mediterranean fever and controls, with a p-value more than 0.05. However, right ventricular diastolic dysfunction was observed in patients with familial Mediterranean fever documented by tissue Doppler imaging, with a p-value less than 0.05 for E't and A't wave ratio. CONCLUSION: Using tissue Doppler imaging, we have demonstrated that although left ventricular functions were comparable in the patients and healthy children, right ventricular diastolic function indices were impaired in patients with familial Mediterranean fever during childhood. Impaired right ventricular diastolic function may be an early manifestation of cardiac involvement in children with familial Mediterranean fever.

Evaluation of nocturnal blood pressure changes and urinary electrolyte excretion in children with enuresis.

BACKGROUND: Monosymptomatic nocturnal enuresis (MNE) is defined as involuntary nighttime urination of children over five years of age without any congenital or acquired defect in the central nervous system. Many factors, mainly nocturnal polyuria, sleep disorders, decreased bladder capacity, and bladder dysfunctions play a role in the etiology of MNE. METHODS: Eighty-three children diagnosed with MNE were included in the study. Complete blood cell count, blood biochemistry, renin, and aldosterone levels of all children were obtained. Twenty-four-hour urine samples were collected separately daytime and nighttime and urinary electrolytes were evaluated. Also, 24-hour ambulatory blood pressure monitoring (ABPM) was performed for each patient. The results were evaluated by comparing both enuretic children vs. control group and enuretic children with polyuria vs. without polyuria. RESULTS: When we compared the enuretic children and the control group in terms of urinary electrolytes, the fractional excretion of sodium (FENa) and fractional excretion of potassium (FEK) values of the enuretic group were higher than the control. The evaluation of the 24-hour ABPM findings revealed no significant difference in terms of the mean arterial pressure (MAP) and diastolic blood pressure (DBP) during the daytime and nighttime measurements. The daytime systolic blood pressure (SBP), however, was significantly lower in the enuretic group. When enuretic children with and without polyuria and the control group were compared, the nighttime, FENa, FEK, as well as nighttime urinary excretion of calcium and protein were significantly higher in enuretic children with polyuria. No difference was detected on the MAP, SBP, or DBP values. CONCLUSIONS: In conclusion, the nighttime urinary solute excretion of enuretic children was found to be higher and this condition may especially be associated with pathogenesis of nighttime polyuria. In enuretic children, nighttime blood pressure changes were not influential in the etiopathogenesis in all patient groups and multiple mechanisms may play a role in the pathogenesis of enuresis.

Ambulatory blood pressure monitoring of healthy schoolchildren with a family history of hypertension.

Early detection of primary hypertension (HT) is essential to prevent the development of end organ damage, especially in patients with a family history of HT. Physicians must pay a great attention during the follow-up of these children. Our aim was to investigate whether children with hypertensive parents are under the risk of development of HT or not by using ambulatory blood pressure measurement (ABPM). Seventy-nine healthy children were enrolled in the study: 39 with positive familial history of primary HT (study group) and 40 without familial history of HT (control group). Complete blood count, urinalysis, and biochemical tests were performed in all children in the study group. Children in both groups were examined by casual BP measurement and ABPM. The study group had significantly higher levels of BP (p < 0.05) than the controls. In the study group systolic BP and diastolic BP loads were significantly higher than the controls (p < 0.000; p = 0.002, respectively). In conclusion, parental BP is a strong predictor of the future BP in their children. It is possible that early abnormalities of BP may escape from detection by casual office measurement, and ABPM is recommended especially to detect BP abnormalities before HT becomes clinically overt.

Eisenmenger syndrome and juvenile rheumatoid arthritis--a case of double diagnosis.

An 8.5-year-old girl evaluated for central cyanosis, hypoxia and normocarbia was found to have aorticopulmonary window and pulmonary hypertension. The diagnosis of Eisenmenger syndrome (ES) was made and treatment with bosentan was started. Four months later she was diagnosed to have juvenile rheumatoid arthritis and naproxen treatment was started. The case was remarkable in that she showed clinical improvement with new generation treatment of ES although pulmonary arterial pressure did not decrease significantly and the diagnosis of juvenile rheumatoid arthritis was made during follow-up.

Hyperleptinemia and its relation with peripheral C34(+)CD7(+) stem cells in renal transplant recipients.

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<0.05). There were no significant differences in the mean CD34(+), 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<0.05). 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.

Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene.

Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder, affecting approximately 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.

Type 1 diabetes mellitus associated with nephrotic syndrome.

Nephrotic syndrome (NS) in a patient with diabetes mellitus (DM) first suggests the diagnosis of diabetic nephropathy. However, glomerular diseases other than diabetic nephropathy have been reported in patients with DM. We present a child with type 1 DM (DM1) associated with NS. A 3 year-old boy who was diagnosed with DM1 developed proteinuria in nephrotic range at the 10th month of follow-up. He had remission on steroid treatment without any problem in glycemic control as he was given tapered daily doses instead of an alternate day regimen. He relapsed at the 7th month of follow-up, and cyclophosphamide treatment brought about remission. He had HLA A24, DR4 and DR53 antigens in common with previously reported cases of DM-NS association. The immunological basis of these diseases may have a causal effect on the association, but the etiopathogenesis is still unclear.

Global fibrinolytic capacity in children on dialysis.

UNLABELLED: 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<0.05). There was no significant difference between the mean GFC values of HD patients and controls. The mean serum albumin level was lower in CAPD patients than in HD patients (p<0.05), and there was also a positive correlation between serum albumin level and GFC in patient groups(r=0.52, p<0.05). Global fibrinolytic capacity was positively correlated with hemoglobin level and negatively correlated with weekly erythropoietin dose per kg body weight (r=0.56 and r=-0.49, respectively; p<0.05). CONCLUSION: The results suggest that CAPD patients have decreased fibrinolytic capacity compared to HD patients. Hypoalbuminemia and erythropoietin treatment may contribute to suppression of fibrinolytic function CAPD patients.

Effect of congenital heart disease on renal function in childhood.

BACKGROUND: Nephropathy is a well-known complication of congenital heart disease (CHD), and the risk of developing renal impairment is particularly high in patients with cyanotic CHD. Most investigations of renal impairment in CHD have involved patients 20 years and older. This study investigated renal tubule function in pediatric patients with CHD, and compared findings in cyanotic and acyanotic groups. METHODS: Twenty children with acyanotic CHD, 23 children with cyanotic CHD, and 13 healthy children were enrolled. Blood and early morning urine samples were collected from each subject to measure urinary concentrations of sodium, microalbumin, creatinine, beta(2)-microglobulin, and N-acetyl-beta-D-glucosaminidase (NAG). RESULTS: The age and sex distributions in the three groups were similar. Median fractional excretion of sodium (FeNa) and urinary NAG/creatinine were significantly higher in the cyanotic group than in the control group (p = 0.022 and p = 0.002, respectively). There were no statistically significant differences among the groups with respect to urinary beta(2)-microglobulin/creatinine, urinary microalbumin/creatinine or glomerular filtration rate. CONCLUSION: Tubular injury can be detected before glomerular injury occurs even within the first decade of life in patients with cyanotic CHD.

Autoimmune thyroiditis with associated proteinuria: report of two patients.

The association of renal disease and autoimmune thyroid disorders has been reported previously. Renal findings associated with autoimmune thyroiditis present more commonly as proteinuria ranging from mild to nephrotic levels. We report here two adolescent girls with hyperthyroidism associated with transient proteinuria correlated with thyroid hormone levels. They had positive antithyroid peroxidase and antithyroglobulin antibodies. Ultrasonographic and scintigraphic findings of the thyroid gland were consistent with Graves' disease in both. Their renal functions were normal except proteinuria (daily protein excretion of 13.5 mg/m2/h in patient 1 and 11 mg/m2/h in patient 2). When they became euthyroid on antithyroid treatment, proteinuria decreased without associated hematuria and/or hypertension. In conclusion, patients with autoimmune thyroid disease should be assessed for the possibility of proteinuria and the etiological investigation of proteinuria should include evaluation of thyroid functions.

Neurofibromatosis--Noonan's syndrome with associated rhabdomyosarcoma of the urinary bladder in an infant: case report.

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 non-sense 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.

Beneficial role of intravenous calcitriol on bone mineral density in children with severe secondary hyperparathyroidism.

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 (i.v.) 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 i.v. administration of calcitriol in chronic dialysis patients.

Lower brachial plexopathy in a child with Henoch-Schönlein purpura.

Henoch-Schönlein purpura is characterized by nonthrombocytopenic purpura with multisystem involvement. Nervous system involvement was reported, characterized by headaches, mental-status changes, seizures, paresis, coma, or encephalopathy. Peripheral neuropathy is rarely reported. We describe a 12-year-old boy with Henoch-Schönlein purpura who presented with abdominal pain and underwent a laparatomy before the onset of palpable purpuric rash. Neuropathic findings in the left lower brachial plexus developed while he was receiving steroid treatment for gastrointestinal involvement. He responded well to intravenous pulse steroid therapy. Both sensory and motor dysfunction returned to normal after 3 months of treatment. His steroid dose was gradually withdrawn and stopped. He was symptom-free at month 12 of follow-up.

Recurrent vasculopathic skin lesions associated with homozygous protein C deficiency.

Symptomatic protein C deficiency is a rare condition. Vasculopathy associated with hypercoagulable state in protein C deficiency has also been reported rarely. We described a boy who was diagnosed as having homozygous protein C deficiency during the neonatal period, when he developed purpura fulminans. At 7 years of age, he developed recurrent, painful, nonscarring, purpuric skin lesions. Histopathologic skin findings were compatible with those of vasculopathy. The histopathologic characteristics of these vasculopathic lesions and the pathogenetic mechanisms of their association with protein C deficiency are discussed.

Full-house nephropathy in a patient with negative serology for lupus.

A 10-year-old girl presented with a complaint of recurrent abdominal pain. Physical examination findings were unremarkable. Laboratory investigations revealed BUN of 17 mg/dl and creatinine of 1 mg/dl, and complement levels were normal. She had neither hematuria nor proteinuria, and glomerular filtration rate was 60.9 ml/min/1.73 m(2). ANA, anti-DNA, p-ANCA and c-ANCA were all negative. Renal biopsy revealed findings of class III lupus nephritis in light, "full-house" nephropathy in immune fluorescent and tubuloreticular inclusions in electron microscopic examinations. After 17 months of treatment, her last creatinine is 2.5 mg/dl and GFR is 17.9 ml/min/1.73 m(2) and ANA and anti-DNA remain still negative. This case presents an example that decreased GFR can be the first presenting symptom of full-house nephropathy. Those patients who have negative lupus serology and renal biopsy findings of full-house nephropathy and tubuloreticular inclusions may behave and should be treated as lupus nephritis.

Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations.

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.

Unusual presentation of IgA nephropathy in childhood: a case report.

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.

Effect of obesity on inflammatory markers and renal functions.

AIM: To examine the relationship between inflammation criteria and body mass index in otherwise-healthy obese schoolchildren 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 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<0.05). A significant positive correlation was found between glomerular filtration rate and body mass index in the whole study group (r=0.39, p=0.001). A positive correlation was found between body mass index standard deviation and inflammatory mediators and glomerular filtration rate. No significant difference existed regarding protein and microalbumin excretion in the urine. CONCLUSION: Inflammatory mediators increased significantly in obese children, and the glomerular filtration rate increased as the body mass index increased. To prevent obesity-related complications in adulthood, it is important to take measures to prevent development of obesity during childhood.

Acute renal failure and mortality after open-heart surgery in infants.

Acute renal failure (ARF) is a major complication in infants who undergo cardiac surgery. The aim of this investigation was to identify possible risk factors for ARF and mortality in this patients group. Out of 64 patients, 21 (32.8%) cases developed acute renal failure and overall mortality rate was 25%. The mortality rate was higher in the infants who developed ARF than those who did not (66.7% and 4.7%, respectively, p<0.05). Also, ARF was positively correlated with mortality (r:0.70, p<0.0001). The nonsurvivors had lower mean serum albumin than did the survivors (p<0.05), and serum albumin level was negatively correlated with mortality (r= -0.34, p< 0.05). For the patients with serum albumin level <3.5 g/dL, the unadjusted odds ratio for mortality was 4.3 (CI 95%:1.05-17.86). Total bypass time and aorta clamping time were significantly longer in the nonsurvivor group than in the survivor group (p<0.05 for both). In conclusion, the significant risk factors for mortality in these patients were development of ARF, low serum albumin level, and long total bypass and aorta clamping times, which may be predictive of poor prognosis.