Mithat Buyukcelik

Ambulatory blood pressure monitoring and renal functions in children with a solitary kidney.

The aim of this study is to investigate the blood pressure (BP) profile, microalbuminuria, renal functions, and relations with remaining normal kidney size in children with unilateral functioning solitary kidney (UFSK). Sixty-six children with UFSK were equally divided into three groups: unilateral renal agenesis (URA), unilateral atrophic kidney (UAK), and unilateral nephrectomy (UNP). Twenty-two age-, weight-, and height-matched healthy children were considered as a control group. The serum creatinine level and first-morning urine microalbumin and creatinine concentrations were determined by the standard methods. Also, the BP profile was determined by ambulatory blood pressure monitoring (ABPM). We found that the serum creatinine level was higher and creatinine clearance was lower in each patient groups compared to those of the control group (p < 0.05). Compared with the controls, each group of patients had mean office, 24-h, daytime, and night-time systolic and diastolic BP values similar to those of the controls (p > 0.05). An inverse correlation was found between the renal size standard deviation scores (SDS) of normal kidneys and 24-h systolic and diastolic BP load SDS in all of the patients (p < 0.05; r = −0.372, r = −0.295, respectively). The observed relationship between renal size SDS and 24-h mean arterial pressure (MAP), systolic and diastolic BP load SDS suggests that children with UFSK should be evaluated by using ABPM for the risk of hypertension.

Associated anomalies in children with congenital solitary functioning kidney.

Congenital solitary functioning kidney (CSFK) is a relatively common renal malformation and in children is frequently complicated by anomalies of the ipsilateral genital organs and occasionally by anomalies of other organs. The aim of this study was to determine the incidence of associated urological, cardiac, gastrointestinal, hematological, neurological, skeletal, and other congenital malformations in children with CSFK. We retrospectively reviewed 87 consecutive cases of CSFK diagnosed at our hospital between 1995 and 2003. There were 45 boys and 42 girls, whose ages at diagnosis ranged from newborn to 16 years (mean 4.67±4.48 years). In all patients, CSFK was diagnosed by abdominal ultrasound and confirmed by radionuclide studies. In 46 patients (53%) the left kidney was absent, and in 41 patients (47%) the right kidney was absent. Overall associated anomalies were detected in 52 of the 87 children (60%) with CSFK. Urological anomalies were most common, with an incidence of 37% (32/87). Nonurological anomalies were detected in 38 children (44%) with CSFK; these included cardiac anomalies in 13, gastrointestinal anomalies in eight, hematological anomalies in five, neurological anomalies in three, and other organ anomalies in nine. In our study, more than half of the patients with CSFK had associated anomalies. For this reason we recommend abdominal ultrasound and voiding cystourethrogram for early recognition of urological anomalies and a careful physical examination for other organ anomalies in patients with CSFK.

Endothelial nitric oxide synthase gene intron 4 a/b VNTR polymorphism in children with APSGN

The role of endothelial nitric oxide synthase gene intron 4 a/b (eNOS4a/b) variable number of tandem repeats (VNTR) polymorphism in various renal diseases was investigated. We investigated whether the eNOS4a/b VNTR polymorphism is associated with susceptibility to acute poststreptococcal glomerulonephritis (APSGN) and its clinical features. Endothelial NOS4a/b VNTR polymorphism is determined by the polymerase chain reaction in 60 children with APSGN, and 66 healthy controls. The genotype distribution of eNOS4 does not differ between the patients and the controls (X2=5.1, p=0.079). However, the frequency of eNOS4a (eNOS4a/a and eNOS4a/b) genotype is higher in the patients than in the controls (X2=4.5, p=0.046). In the APSGN group we performed renal biopsy on eight patients because of nephrotic syndrome accompanies acute nephritic syndrome or glomerular filtration rate (GFR) is lower than 50% of normal, and found that to carry a/a and a/b genotypes were a significant risk factor for this type presentation (OR=17.3, 95% CI:1.95-152.67, p=0.03). Mean serum creatinine values are found statistically significantly higher in a/a and a/b genotypes when compared with b/b genotypes (p=0.022). Children carrying the “aa” and “ab” genotype or “a” allele of eNOS4 have a greater tendency to develop and clinical presentation of APSGN.

Changes in osmolal gap and osmolality in children with chronic and end-stage renal failure.

within the reference range in patients with renal failure [6] . However, the role of OG and serum osmolality in this condition was not established very well. The aim of this study is to determine the serum OG and osmolality in children with various stages of CRF and the effect of dialysis modalities on these parameters. We also investigated the possible relationship among the changes of OG and serum osmolality before and after HD in patients with CRF. We studied 101 patients (52 boys and 49 girls), with known CRF. Thirty-six patients (age range 5–16 years) underwent HD (HD patients), 29 patients peritoneal dialysis (PD patients) whose age range was 2–14 years, and 25 of them were on continuous ambulatory PD while 4 were treated by continuous cycling PD; 36 nondialyzed (age range 2–16 years) CRF patients (ND patients) were also included. There was a statistically significant difference in age between the PD and HD groups (p = 0.013). All HD patients were treated by bicarbonate dialysis 3 times weekly with 0.4–0.7 m 2 substituted cellulosic membranes. PD was carried out 4–6 times daily in continuous ambulatory PD patients and for 8–10 h/night in continuous cycling PD patients with 1.36% peritoneal dialysis solutions (Dianeal 1.36%, Baxter-Eczacibasi Healthcare, Istanbul, Turkey). There was no medication by mannitol in any groups. Samples of blood were obtained before and

Barttin mutations in antenatal Bartter syndrome with sensorineural deafness

Case 1 The male patient had been born at 30 weeks of gestation (weight 1,360 g) to consanguineous parents. Pregnancy was complicated by severe polyhydramnios. Findings at his physical examination were normal except for a triangular face, large eyes, protruding ears, tachypnea and retractions. He rapidly developed renal salt wasting, hyper-reninemic hyperaldosteronism, hypokalemic metabolic alkalosis, and impaired renal function [creatinine (Crea) 1.5 mg/dl]. The diagnosis of antenatal Bartter syndrome (aBS) was suspected. On day 49 oral administration of indomethacin was started (2–3 mg/kg per day), which could not help to regulate serum potassium levels. Instead, upon indomethacin treatment, renal function further deteriorated (Crea 2.5 mg/dl). Therefore, indomethacin was stopped, and he was treated with spironolactone. Potassium need declined to 27 mEq/kg, and he was discharged after 140 days. He has unilateral sensorineural deafness detected by impaired brain stem evoked potentials and growth retardation. A homozygous mutation in the Barttin gene (BSND) leading to a loss of start codon was detected (Table 1). A similar mutation has been previously described [1].

An unusual cause of pleural effusion, urinothorax in a child with urinary stone disease.

The association of obstructive uropathy with ascites has been known since 1863 and with pleural effusion since 1954. Urinothorax is a rare complication of blunt renal trauma, ureteral instrumentation or ureteral surgery. Leakage from the urinary tract may cause urinoma, retroperitoneal collection of fluid, which can lead to urinothorax. This case report describes a child with a massive right-sided pleural effusion that was caused by same-sided renal calculi. The effusion disappeared within a few days after adequate urinary drainage had been established.

Mitral annular calcification and brown tumor of the rib in a child with chronic renal failure

Mitral annular calcification and liquefaction necrosis of this lesion mimicking intracardiac tumor because of secondary hyperparathyriodism have been described in adult patients with chronic renal failure, but have not been reported in children. Chronic renal failure is one of the predisposing factors of this condition. We report the case of a 13-year-old patient with continuous ambulatory peritoneal dialysis with severe hyperparathyroidism who was found to have intracardiac and rib lesions considered to be brown tumors.

Association of eNOS gene intron 4 a/b VNTR polymorphisms in children with nephrotic syndrome.

To investigate the association of endothelial nitric oxide synthase gene intron 4 (eNOS4) polymorphisms with nephrotic syndrome, the eNOS4 genotypes were assessed in 161 children with nephrotic syndrome in comparison with 78 healthy subjects. We classified the children with nephritic syndrome into 2 groups: as steroid-sensitive nephrotic syndrome (SSNS) (n=125) and steroid-resistant nephrotic syndrome (SRNS) (n=36). The eNOS4 polymorphisms were analyzed by polymerase chain reaction. The frequencies of eNOS4 aa, ab and bb genotypes were 3%, 31%, and 66% in all the nephrotic syndrome groups, and 1%, 23%, and 76% in the control group (x(2)=2.87, p>0.05). In addition, the frequencies of eNOS4 aa, ab and bb genotypes were 2%, 33%, and 65% in SSNS group, and 5%, 28%, and 67% in the SRNS group (x(2)=1.13, p=0.567). The present study is the first to investigate eNOS4 gene polymorphisms in children with SSNS and SRNS. Our data show that the eNOS4 gene polymorphisms were not associated with the development, frequent relapse and response to steroid in nephritic syndrome.