Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

被引：248

作者：

Cochat, Pierre ^{[1
,2
,3
]}

Hulton, Sally-Anne ^{[4
]}

Acquaviva, Cecile ^{[5
]}

Danpure, Christopher J. ^{[6
]}

Daudon, Michel ^{[7
]}

De Marchi, Mario ^{[8
]}

Fargue, Sonia ^{[6
]}

Groothoff, Jaap ^{[9
]}

Harambat, Jerome ^{[10
]}

Hoppe, Bernd ^{[11
]}

Jamieson, Neville V. ^{[12
]}

Kemper, Markus J. ^{[13
]}

Mandrile, Giorgia ^{[8
]}

Marangella, Martino ^{[14
]}

Picca, Stefano ^{[15
]}

Rumsby, Gill ^{[16
]}

Salido, Eduardo ^{[17
]}

Straub, Michael ^{[18
]}

van Woerden, Christiaan S. ^{[9
]}

机构：

[1] Hosp Civils Lyon, Reference Ctr Rare Renal Dis, Lyon, France

[2] Hosp Civils Lyon, EPICIME, Dept Paediat, Lyon, France

[3] Univ Lyon 1, F-69365 Lyon, France

[4] Birmingham Childrens Hosp NHS Trust, Dept Nephrol, Birmingham, W Midlands, England

[5] Hosp Civils Lyon, Ctr Biol Est, Lab Inborn Metab Dis, Lyon, France

[6] UCL, Dept Cell & Dev Biol, Div Biosci, London, England

[7] Tenon Hosp, Dept Funct Invest, Lab Urolithiasis, Paris, France

[8] Univ Turin, San Luigi Hosp, Med Genet Unit, Turin, Italy

[9] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Paediat Nephrol, NL-1105 AZ Amsterdam, Netherlands

[10] Bordeaux Univ Hosp, Dept Pediat, Bordeaux, France

[11] Univ Hosp Cologne, Dept Pediat & Adolescent Med, Div Pediat Nephrol, Cologne, Germany

[12] Cambridge Univ Hosp, Dept Surg, Cambridge, England

[13] Univ Med Ctr Hamburg Eppendorf, Dept Pediat Nephrol, Hamburg, Germany

[14] Molinette Mauriziano Hosp, Nephrol & Dialysis Unit, Turin, Italy

[15] Bambino Gesu Childrens Res Hosp, Dept Nephrol Urol, Dialysis Unit, Rome, Italy

[16] UCL Hosp, Clin Biochem, London, England

[17] Univ La Laguna, Ctr Biomed Res Rare Dis CIBERER Hosp Univ Canaria, Tenerife, Spain

[18] Tech Univ Munich, Dept Urol, Rechts Isar Med Ctr, Munich, Germany

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2012年 / 27卷 / 05期

关键词：

combined liver-kidney transplantation; nephrocalcinosis; oxalosis; primary hyperoxaluria type 1; urolithiasis; COMBINED LIVER-KIDNEY; ALANINE-GLYOXYLATE AMINOTRANSFERASE; CALCIUM-OXALATE SUPERSATURATION; I PRIMARY HYPEROXALURIA; STAGE RENAL-DISEASE; URINARY OXALATE; AGXT GENE; LONG-TERM; PERITONEAL-DIALYSIS; PRENATAL-DIAGNOSIS;

D O I：

10.1093/ndt/gfs078

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

100103 [病原生物学]; 100218 [急诊医学];

摘要：

Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine: glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate accumulates leading to systemic oxalosis. The diagnosis is based on clinical and sonographic findings, urine oxalate assessment, enzymology and/or DNA analysis. Early initiation of conservative treatment (high fluid intake, pyridoxine, inhibitors of calcium oxalate crystallization) aims at maintaining renal function. In chronic kidney disease Stages 4 and 5, the best outcomes to date were achieved with combined liver-kidney transplantation.

引用

页码：1729 / 1736

页数：8

共 74 条

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