Is voiding cystourethrography necessary for evaluating unilateral ectopic pelvic kidney?

OBJECTIVE: The aim of this study is to evaluate if voiding cystourethrography (VCUG) is necessary for the evaluation of unilateral ectopic pelvic kidney (UEPK) in order to identify vesicoureteral reflux (VUR). MATERIAL AND METHODS: Files of the patients who had been followed-up for ectopic pelvic kidney in two pediatric nephrology clinics between August 2011 and December 2017 were retrospectively reviewed. Other anomalies, such as crossed, fused, and bilateral pelvic ectopia were excluded. Preliminary diagnoses were made via urinary ultrasonography while dimercaptosuccinic acid scintigraphy was carried out to confirm the diagnoses. Differential renal function and presence of renal scars was checked. VCUG results were obtained and those patients that showed VUR were noted. RESULTS: A total of 72 patients were included in the study (41 males and 31 females). The median patient age was 4.1 years (range: 2 months-14.5 years). Hydronephrosis was present in only 4 patients (5.6%), where 1 one of those was on the contralateral side. UEPKs contributed to the mean 37.9±7.8% of total renal function and 15% of these patients had renal scars (expressed as a global reduction in function, not as patchy scars). VCUG was obtained in 42 patients and VUR was present in only 1 patient (2.4%). The median follow-up period was 16.5 months (range: 3-92 months). CONCLUSION: The results of our study indicated that hydronephrosis and VUR are not common in UEPKs. Therefore, routine VCUG should be avoided in the evaluation of UEPK in order to protect patients from unnecessary radiation exposure and an increased risk of urinary tract infections.

Severe osteoporosis and high level TSH in a child before the diagnosis of acute lymphoblastic leukemia.

Osteoporosis in children is rare and mostly secondary to such conditions as prolonged immobilization, malabsorption syndromes, corticosteroid excess, osteogenesis imperfecta, celiac disease, Turner syndrome, and malignancy. Idiopathic juvenile osteoporosis (IJO) is a very rare condition of primary bone demineralization that presents in childhood. IJO, a disease of unknown etiology, manifests typically by pain, bone deformities, and fractures. Diagnosis of IJO was made by excluding other common causes of osteoporosis in this age. Bisphosphonates, calcitriol, fluoride, and calcitonin have been administered therapeutically, but the results were equivocal. Usually the disease remits by itself. Patient that has serious osteoporosis and high thyroid stimulating hormone level was diagnosed as IJO by eliminating secondary reasons. We report this case, whose symptoms were disappeared after parenteral pamidronat treatment, and he was reexamined owing to anemia and trombositopenia, and diagnosed as B-cell acute lymphoblastic leukemia, just to emphasis the importance of close follow-ups of IJO patients.

Serum copper and zinc levels in mothers and cord blood of their newborn infants with neural tube defects: a case-control study.

OBJECTIVES: To measure the cord blood and maternal serum levels of folic acid, vitamin B12, zinc, copper, selenium and lead in infants born with neural tube defect (NTD), and to examine a possible relationship between the nutriture of these micronutrients and occurrence of neural tube defect. DESIGN: Case-control study. METHODS: Maternal serum and cord blood samples were obtained at delivery from 70 healthy mothers and 74 mothers who had a newborn with NTD. RESULTS: The mean (+/- SD) maternal serum zinc level in the NTD group was significantly lower than that of the control group (835.6 microg/L (+/- 333.8 /L vs. 1035.7 microg/L (+/- 299.8 g/ L, P=0.004, respectively). The mean maternal and cord serum copper levels in the NTD group were significantly higher when compared to the control group (2831.1 microg/L (+/- 1017 g/L vs. 2402 microg/L (+/- 744.2 microg/L; P=0.03; and 789.8 microg/L vs 517.2 microg/L, P < 0.001, respectively). There was a negative correlation between the cord levels of folic acid and copper in the NTD group with the respective maternal serum levels (r=-0.289; P=0.018). CONCLUSIONS: High maternal serum levels of copper and lower level of zinc during pregnancy associated with NTD in newborn.

Acute renal failure due to bilateral uric acid lithiasis in infants.

Acute renal failure (ARF) is one of the complications of urolithiasis, but the role of medical treatment to relieve urinary obstruction in children with ARF is uncertain. We report on infants with acute obstructive uric acid lithiasis. We describe presentation features as well as diagnosis methods and medical treatment in five infants who were admitted to our institution with ARF due to uric acid lithiasis. The medical treatments for all patients were fluid liberalization, urine alkalinization, and oral allopurinol. Two children underwent urinary diversion. Within 8 h, urine output improved in all patients, and the stones passed spontaneously. All obstructed kidneys were relieved with medical treatment, and no renal sequel remained. So this series has showed a role of medical therapy in acute obstructive uric acid lithiasis.

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 (X(2)=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 (X(2)=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.

Renal amyloidosis in a child with sickle cell anemia.

The kidney is frequently affected in patients with sickle cell syndrome, i.e., homozygous and heterozygous patients, with a consequently large spectrum of renal abnormalities that may range from minimal functional changes to chronic renal failure. Here, we present a 13-year-old boy with sickle cell anemia (SCA) (HbSS) who was referred to our unit with nephrotic syndrome. Renal biopsy revealed AA type amyloidosis on the basis of light microscopic findings, indicating Congo red staining and immunohistochemistry. He had neither a family history of familial Mediterranean fever (FMF) nor any complaint of recurrent abdominal pain, arthritis, and fever, but frequent painful vaso-occlusive crises. The patient was found to have no MEFV gene (Mediterranean feVer) mutations either. Painful episodic attacks might provoke recurrent acute inflammation, leading to repeated stimulation of acute phase responses and cause secondary amyloidosis. To our knowledge, this boy is the first case of SCA complicated by renal amyloidosis observed in childhood.

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.

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 hyperparathyroidism 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.