How We Treat Primary Hyperoxaluria Type 1

被引：2

作者：

Breeggemann, Matthew C. ^{[1
]}

Harris, Peter C. ^{[2
]}

Lieske, John C. ^{[2
,3
]}

Tasian, Gregory E. ^{[4
,5
]}

Wood, Kyle D. ^{[6
]}

机构：

[1] Univ Calif San Francisco, Div Nephrol, San Francisco, CA USA

[2] Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USA

[3] Mayo Clin, Dept Lab Med, Rochester, MN USA

[4] Childrens Hosp Philadelphia, Dept Surg, Div Urol, Philadelphia, PA USA

[5] Univ Penn, Dept Biostat Epidemiol & Informat, Philadelphia, PA USA

[6] Univ Alabama Birmingham, Dept Urol, Birmingham, AL 35294 USA

来源：

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2024年 / 19卷 / 06期

关键词：

CKD; genetic renal disease; kidney stones;

D O I：

10.2215/CJN.0000000000000460

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：800 / 802

页数：3

共 10 条

[1] Primary Hyperoxaluria [J].

Cochat, Pierre ;

Rumsby, Gill .

NEW ENGLAND JOURNAL OF MEDICINE, 2013, 369 (07) :649-658

[2] A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis [J].

Ferraro, Pietro Manuel ;

D'Ambrosio, Viola ;

Gambaro, Giovanni ;

Giachino, Daniela ;

Groothoff, Jaap ;

Mandrile, Giorgia .

NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 (02) :367-370

[3] Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope [J].

Groothoff, Jaap W. ;

Metry, Ella ;

Deesker, Lisa ;

Garrelfs, Sander ;

Acquaviva, Cecile ;

Almardini, Reham ;

Beck, Bodo B. ;

Boyer, Olivia ;

Cerkauskiene, Rimante ;

Ferraro, Pietro Manuel ;

Groen, Luitzen A. ;

Gupta, Asheeta ;

Knebelmann, Bertrand ;

Mandrile, Giorgia ;

Moochhala, Shabbir S. ;

Prytula, Agnieszka ;

Putnik, Jovana ;

Rumsby, Gill ;

Soliman, Neveen A. ;

Somani, Bhaskar ;

Bacchetta, Justine .

NATURE REVIEWS NEPHROLOGY, 2023, 19 (03) :194-211

[4] Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome [J].

Harambat, Jerome ;

Fargue, Sonia ;

Acquaviva, Cecile ;

Gagnadoux, Marie-France ;

Janssen, Francoise ;

Liutkus, Aurelia ;

Mourani, Chebl ;

Macher, Marie-Alice ;

Abramowicz, Daniel ;

Legendre, Christophe ;

Durrbach, Antoine ;

Tsimaratos, Michel ;

Nivet, Hubert ;

Girardin, Eric ;

Schott, Anne-Marie ;

Rolland, Marie-Odile ;

Cochat, Pierre .

KIDNEY INTERNATIONAL, 2010, 77 (05) :443-449

[5] Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria [J].

Hopp, Katharina ;

Cogal, Andrea G. ;

Bergstralh, Eric J. ;

Seide, Barbara M. ;

Olson, Julie B. ;

Meek, Alicia M. ;

Lieske, John C. ;

Milliner, Dawn S. ;

Harris, Peter C. .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2015, 26 (10) :2559-2570

[6]

Leslie SW, 2023, 24-Hour Urine Testing for Nephrolithiasis: Interpretation Guideline

[7] Medical Management of Kidney Stones: AUA Guideline [J].

Pearle, Margaret S. ;

Goldfarb, David S. ;

Assimos, Dean G. ;

Curham, Gary ;

Denu-Ciocca, Cynthia J. ;

Matlaga, Brian R. ;

Monga, Manoj ;

Penniston, Kristina L. ;

Preminger, Glenn M. ;

Turk, Thomas M. T. ;

White, James R. .

JOURNAL OF UROLOGY, 2014, 192 (02) :316-324

[8] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J].

Richards, Sue ;

Aziz, Nazneen ;

Bale, Sherri ;

Bick, David ;

Das, Soma ;

Gastier-Foster, Julie ;

Grody, Wayne W. ;

Hegde, Madhuri ;

Lyon, Elaine ;

Spector, Elaine ;

Voelkerding, Karl ;

Rehm, Heidi L. .

GENETICS IN MEDICINE, 2015, 17 (05) :405-424

[9] The genetics of kidney stone disease and nephrocalcinosis [J].

Singh, Prince ;

Harris, Peter C. ;

Sas, David J. ;

Lieske, John C. .

NATURE REVIEWS NEPHROLOGY, 2022, 18 (04) :224-240

[10] Distinguishing characteristics of pediatric patients with primary hyperoxaluria type 1 in PEDSnet [J].

Tasian, Gregory E. ;

Dickinson, Kimberley ;

Park, Grace ;

Marchesani, Nicole ;

Mittal, Akanksha ;

Cheng, Nathan ;

Ching, Christina B. ;

Chu, David I. ;

Walton, Ryan ;

Yonekawa, Karyn ;

Gluck, Caroline ;

Muneeruddin, Samina ;

Kan, Kathleen M. ;

Defoor, William ;

Rove, Kyle ;

Forrest, Christopher B. .

JOURNAL OF PEDIATRIC UROLOGY, 2024, 20 (01) :88e1-88e9

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