Journal of Pediatric Biochemistry - Volume 4, issue 2
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Journal of Pediatric Biochemistry is an English multidisciplinary peer-reviewed international journal publishing articles in the field of child biochemistry, pediatric laboratory medicine and biochemical aspects to the study of childhood diseases in body fluids, cells or tissues.
Journal of Pediatric Biochemistry provides an in-depth update on new subjects, and current comprehensive coverage of the latest techniques in biochemical diagnosis in childhood. The journal encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines that work in the field of child biochemistry.
Journal of Pediatric Biochemistry is published quarterly (January, April, July and October) by the Society of Child Science, Yüzüncü Yıl University, Faculty of Medicine, Van, Turkey. Manuscripts are judged by two experts solely on the basis of their contribution of original data and ideas and their presentation. All articles will be critically reviewed within two months, but longer delays are sometimes unavoidable. All manuscripts must comply with the Instructions to Authors.
Abstract: Pediatric urolithiasis is an endemic disease in certain parts of the world, namely Turkey and the Far East. As a recurrent pathology which may reveal functional as well and morphologic changes in the urinary tract, environmental factors together with urogenital abnormalities should be evaluated thoroughly in each patient. The aims of management should be complete clearance of stones, treatment of urinary tract infections, and preservation of renal function and prevention of stone recurrence. In addition to…certain minimally invasive stone removal procedures, treatment of pediatric urolithiasis requires a detailed metabolic evaluation in all patients on an individual basis. Obstructive pathologies have to be corrected immediately and children with a positive family history should be followed carefully with respect to a high likelihood of stone re-growth and recurrence. Although specific management of each metabolic abnormality seems to be the key factor in the medical management of stone disease, as general advice each child should be forced to adequate fluid intake which will reveal the urine volume increase in accordance with the body mass index. Moreover, medical therapeutic agents that increase urine citrate levels should be encouraged.
Abstract: Imaging techniques are required to diagnose urinary stones and to determine their size and localization for planning appropriate therapy. In pediatric urolithiasis, ultrasonography is the primary technique and cornerstone for imaging. It is not invasive, easily available and of a reasonable accuracy. If ultrasound is not sufficient, conventional radiological modalities (e.g., plain films) should be added. Computerized tomography, which is the method with the highest sensitivity and specifity, has the drawback of…high radiation doses. It could be shown that computerized tomography can be safely avoided in the vast majority of children presenting with urinary stones.
Keywords: Imaging, ultrasound, sonography, computerized tomography, urolithiasis, children
Abstract: Urolithiasis in children is a rare event with an overall incidence of 1–2%. Many stones pass spontaneously and can be managed conservatively. If spontaneous passage fails or is not indicated, the removal of the stones should be as minimal-invasive as possible and a complete stone clearance should always be attempted. Shock Wave Lithotripsy remains the method of first choice in children because of its higher efficacy compared to adults. Percutaneous nephrolithotomy and ureteroscopy can be performed…safely if indicated. Laparoscopic and open techniques are limited to few selected cases.
Abstract: Metabolic stone disease is the leading etiology in children with urolithiasis. Ten percent of these cases are caused by cystinuria. In the last decades the genetic origin of cystinuria was clearly defined with two major gene defects in the SALC3A1 gene on chromosome 2 and in the SLC7A9 gene on chromosome 19. As a consequence the reabsorption of dibasic amino acid cystine in the proximal renal tubules is disturbed. Renal colics caused by urolithiasis in the…adolescent patient represent the classical clinical picture. Diagnosis is made by quantitative determination of amino acids in 24 h urine sampling with elevated excretion of the cystine. Treatment includes dilution and alkalinization of urine in mild cases and pharmacotherapy with D-penicillinamine and Alpha-mercaptopropionylglycine in severe cases. In the future, new approaches such as the antisense technology will open a new therapeutic gate.
Keywords: Urolithiasis, cystinuria, genetic disorder, children
Abstract: The primary hyperoxalurias (PH) types I, II and III are autosomal recessive inherited defects of the glyoxylate metabolism leading to endogenous oxalate overproduction and hence strongly elevated urinary oxalate excretion (> 1 mmol/1.73 m^2 body surface area per day; normal < 0.5). Main primary symptoms of PH are recurrent urolithiasis and/or progressive nephrocalcinosis. This and chronic inflammatory processes often lead to early renal failure, at least in PH type I, and consequently to systemic…deposition of calcium oxalate crystals, which makes it often a lethal multisystemic disease. Diagnosis is often missed or delayed until end-stage renal disease (ESRD) or even after isolated kidney transplantation has failed due to recurrent oxalosis. Even in the patient with early diagnosis, treatment options are scarce with high fluid intake and measures to increase urine solubility, e.g., alkaline citrate. In addition, pyridoxine treatment in PH I may reduce oxalate excretion in about a third of patients. In ESRD time on dialysis should be short to avoid overt systemic oxalosis. Transplantation methods are differing depending on the type of PH and the individual patients' course, but combined liver and kidney transplantation is the method of choice in PH I, whereas isolated kidney transplantation is performed in PH II. No patient with PH III has yet been reported to develop ESRD.
Abstract: Nephrocalcinosis (NC) describes the deposition of calcium-oxalate or calcium-phosphate crystals in the tubuli or interstitial kidney parenchyma. Whereas kidney stones are formed in every age NC is most frequently seen during the first years of life. Because of multiple causative factors NC is a diagnostic challenge. A mostly metabolic reason for the development of nephrocalcinosis can be identified in up to 75% of patients and hence adequately be treated. An imbalance of lithogenic and inhibitory substances…is the pathophysiologic basis for the development of nephrocalcinosis. This imbalance is either transient, for example in patients with alimentary hyperoxaluria or short term immobilization induced hypercalciuria, or ongoing, e.g., in tubulopathies or inborn errors of metabolism. Hypercalciuria is the most prominent promotor for the development of nephrocalcinosis, either accompanied by hypercalcemia or not. Both hyperoxaluria, in its primary or secondary forms, as well as hypocitraturia, e.g., in renal tubular acidosis, or in the premature infant, are further specific risk factors. Of course, although mostly clinically silent, early diagnosis is mandatory to start treatment, which may help not only to prevent progression of NC but end stage renal failure relying on the underlying diseases.
Abstract: Effective metaphylactic treatment is available for the different types of stone. A high urine volume achieved by sufficient intake of appropriate beverages is the most important goal in the treatment of the pediatric stone patient. Specific dietary and, if required, pharmacological measures tailored to the individual requirements can prevent or reduce recurrences and decrease the burden of invasive procedures in patients with recurrent stone disease.