Primary hyperoxaluria: spectrum of clinical and imaging findings

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• 作者：Sara B. Strauss ; Temima Waltuch ; William Bivin ; Frederick Kaskel…
• 关键词：Calcium oxalate ; Nephrocalcinosis ; Oxalosis ; Primary hyperoxaluria ; Radiography
• 刊名：Pediatric Radiology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：47
• 期：1
• 页码：96-103
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Imaging / Radiology; Pediatrics; Neuroradiology; Nuclear Medicine; Ultrasound; Oncology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-1998
• 卷排序：47

文摘

Primary hyperoxaluria is a rare autosomal recessive inborn error of metabolism with three known subtypes. In primary hyperoxaluria type 1, the most common of the subtypes, a deficiency in the hepatic enzymes responsible for the metabolism of glycoxylate to glycine, leads to excessive levels of glyoxylate, which is converted to oxalate. The resultant elevation in serum and urinary oxalate that characterizes primary hyperoxaluria leads to calcium oxalate crystal deposition in multiple organ systems (oxalosis). We review the genetics, pathogenesis, variable clinical presentation and course of this disease as well as its treatment. Emphasis is placed on the characteristic imaging findings before and after definitive treatment with combined liver and renal transplantation.