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      A Critical Appraisal of the Radiological Evaluation of Nephrocalcinosis

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          Background/Aim: The level of agreement concerning the diagnosis of nephrocalcinosis (NC) based on ultrasonography (US), computed tomography (CT) or kidney/ureter/bladder (KUB) X-ray was assessed. Methods: Sequences of KUB+US+CT from 62 patients, 48 with at least one exam suggesting NC and 14 with pelvicalyceal calcifications (nephrolithiasis) were reviewed twice by 3 radiologists (firstly randomized and secondly presenting KUB+US+CT of each patient together). Results: The intraobserver concordance varied from 76 to 90% for KUB, 77 to 85% for US and 82 to 89% for CT. There was a significant change in diagnosis between the 1st and 2nd reviews for observer 1 in KUB and CT, for observer 2 in US, but not for observer 3. Evaluating patients’ exams together did not provide a better agreement. The highest sensitivity and specificity (92 and 89%, respectively) were only attained when 2 exams suggested NC diagnosis, being CT one of them. These enabled us to suggest that 33 out of 48 (62.5%) patients had NC (evidenced in US+CT+KUB (81.8%), US+CT (12.1%) or KUB+CT (6.1%). Conclusion: The low level of concordance renders the radiological diagnosis of NC difficult. Nephrocalcinosis should be confirmed by CT combined with either US or KUB.

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          Renal cortical nephrocalcinosis

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            A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.

            The anion exchanger gene (AE1) or band 3 encodes a chloride-bicarbonate (Cl(-)/HCO(3)(-)) exchanger expressed in the erythrocyte and in the renal alpha-intercalated cells involved in urine acidification. The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 years of age) with familial distal renal tubular acidosis (dRTA), nephrocalcinosis, and failure to thrive. AE1 mutations were screened by single-strand conformation polymorphism, cloning, and sequencing. A complete form of dRTA was confirmed in the 2 affected brothers and an incomplete form in their father. All 3 were heterozygous for a novel 20-bp deletion in exon 20 of the AE1 gene. This deletion resulted in 1 mutation in codon 888 (Ala-888-->Leu) followed by a premature termination codon at position 889, truncating the protein by 23 amino acids. As band 3 deficiency might lead to spherocytic hemolytic anemia or ovalocytosis, erythrocyte abnormalities were also investigated, but no morphologic changes in erythrocyte membrane were found and the osmotic fragility test was normal. A novel mutation in the AE1 gene was identified in association with autosomal dominant dRTA. We suggest that RTA be considered a diagnostic possibility in all children with failure to thrive and nephrocalcinosis.
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              Nephrocalcinosis in radiographs computed tomography sonography and histology


                Author and article information

                Nephron Clin Pract
                Nephron Clinical Practice
                S. Karger AG
                July 2007
                22 May 2007
                : 106
                : 3
                : c119-c124
                Nephrology Division, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil
                102999 Nephron Clin Pract 2007;106:c119–c124
                © 2007 S. Karger AG, Basel

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                Tables: 5, References: 20, Pages: 1
                Original Paper


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