Article
Urology & Nephrology
Muhammad G. Arnous, Lisa Vaughan, Ramila A. Mehta, Phillip J. Schulte, John C. Lieske, Dawn S. Milliner
Summary: This study aims to investigate the factors influencing stone formation in primary hyperoxaluria type 3 patients. The analysis of stone events and associations with urine parameters and kidney function showed that primary hyperoxaluria type 3 patients have a high prevalence of kidney stones, with increasing event rate and surgical intervention. Higher calcium oxalate supersaturation is associated with increased lifetime stone event rate.
JOURNAL OF UROLOGY
(2023)
Article
Transplantation
Prince Singh, Jason K. Viehman, Ramila A. Mehta, Andrea G. Cogal, Linda Hasadsri, Devin Oglesbee, Julie B. Olson, Barbara M. Seide, David J. Sas, Peter C. Harris, John C. Lieske, Dawn S. Milliner
Summary: Primary hyperoxaluria type 3 (PH3) is characterized by symptoms at a younger age compared to PH1 and PH2, with lower urine oxalate excretion and higher urine calcium levels. Stone events are similar across age groups and PH types, with a lower risk of kidney failure in PH3 patients compared to PH1 and PH2 by age 40. Long-term follow-up studies of larger cohorts are needed to further understand the PH3 phenotype.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Article
Transplantation
Bernd Hoppe, Patricia A. Pellikka, Bastian Dehmel, Ana Banos, Elisabeth Lindner, Ulrike Herberg
Summary: In PH1 ESRD patients, long-term administration of OC5 was found to significantly reduce Pox concentrations, improve or stabilize cardiac function and clinical status, without increasing dialysis frequency. OC5 was safe and well-tolerated, showing promising results for potential clinical impact.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2021)
Article
Urology & Nephrology
Prince Singh, Candace F. Granberg, Peter C. Harris, John C. Lieske, Jeffrey H. Licht, Andrew Weiss, Dawn S. Milliner
Summary: Primary hyperoxaluria (PH) is a genetic disorder that results in increased hepatic production of oxalate. PH type 3 (PH3) is the most recently identified subtype and can lead to kidney failure. Family history of the disease and marked hyperoxaluria can suggest the presence of PH3. Treatment options include hydration and medication.
AMERICAN JOURNAL OF KIDNEY DISEASES
(2022)
Article
Pediatrics
Sebastian Loos, Markus J. Kemper, Kaja Schmaeschke, Uta Herden, Lutz Fischer, Bernd Hoppe, Tanja Kersnik Levart, Enke Grabhorn, Raphael Schild, Jun Oh, Florian Brinkert
Summary: This study retrospectively analyzed the long-term outcomes of 18 pediatric patients with primary hyperoxaluria type 1 (PH1) who underwent combined or sequential liver and kidney transplantation (CLKT/SLKT). The results showed a patient survival rate of 94% and liver and kidney survival rates of 90% and 85%, respectively, after CLKT/SLKT. The outcomes tend to be less optimal in patients with infantile PH1 compared to patients with juvenile PH1.
FRONTIERS IN PEDIATRICS
(2023)
Article
Medicine, General & Internal
Sander F. Garrelfs, Yaacov Frishberg, Sally A. Hulton, Michael J. Koren, William D. O'Riordan, Pierre Cochat, Georges Deschenes, Hadas Shasha-Lavsky, Jeffrey M. Saland, William G. van't Hoff, Daniel G. Fuster, Daniella Magen, Shabbir H. Moochhala, Gesa Schalk, Eva Simkova, Jaap W. Groothoff, David J. Sas, Kristin A. Meliambro, Jiandong Lu, Marianne T. Sweetser, Pushkal P. Garg, Akshay K. Vaishnaw, John M. Gansner, Tracy L. McGregor, John C. Lieske
Summary: Primary hyperoxaluria type 1 is a rare genetic disease caused by hepatic overproduction of oxalate, leading to kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis. This trial tested the efficacy of lumasiran, an RNAi therapeutic agent, in reducing hepatic oxalate production. The results showed that lumasiran significantly reduced urinary oxalate excretion, alleviating the cause of kidney failure in PH1 patients.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Urology & Nephrology
Sander F. Garrelfs, Dewi van Harskamp, Hessel Peters-Sengers, Chris H. P. van den Akker, Ronald J. A. Wanders, Frits A. Wijburg, Johannes B. van Goudoever, Jaap W. Groothoff, Henk Schierbeek, Michiel J. S. Oosterveld
Summary: The study revealed that stable isotope infusion can quantify oxalate kinetics parameters, which can be used to evaluate therapeutic efficacy, investigate pyridoxine responsiveness, and further explore glyoxylate metabolism in humans.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Urology & Nephrology
Yucheng Ge, Yukun Liu, Ruichao Zhan, Zhenqiang Zhao, Jun Li, Wenying Wang, Ye Tian
Summary: The aim of this study was to describe the genetic features and correlation between the genotype and phenotype of Chinese patients with primary hyperoxaluria type 3 (PH3). Genetic and clinical data of PH3 patients in our cohort were collected and analyzed retrospectively. A total of 60 Chinese PH3 patients were included, and various mutations in the HOGA1 gene were found.
WORLD JOURNAL OF UROLOGY
(2023)
Article
Pediatrics
David J. Sas, Kristin Mara, Ramila A. Mehta, Barbara M. Seide, Carly J. Banks, David S. Danese, Tracy L. McGregor, John C. Lieske, Dawn S. Milliner
Summary: This retrospective observational study analyzed data from 83 PH1 patients enrolled in the Rare Kidney Stone Consortium PH Registry to investigate the natural history of urine and plasma oxalate values over time in children with PH1. The study found that children under 5 years old with PH1 had higher urinary oxalate excretion, which may increase their risk for nephrocalcinosis and kidney failure compared to older patients. Moreover, patients with the G170R gene variant may have milder disease.
PEDIATRIC NEPHROLOGY
(2023)
Article
Urology & Nephrology
Gregory Tasian, Kimberley Dickinson, John Karafilidis, Nicole Marchesani, Nuno Antunes, Hanieh Razzaghi, Levon Utidjian, Karyn Yonekawa, Doug Coplen, Samina Muneeruddin, Bob DeFoor, Kyle O. Rove, Christopher Forrest, Christina Ching
Summary: This study evaluated the utility of diagnostic codes for screening primary hyperoxaluria (PH) patients and their positive predictive value (PPV) in identifying children with this rare condition. The findings showed that diagnostic codes had poor accuracy and PPV for PH diagnosis, indicating caution in using them for research purposes.
JOURNAL OF UROLOGY
(2022)
Article
Urology & Nephrology
Gregory Tasian, Kimberley Dickinson, John Karafilidis, Nicole Marchesani, Nuno Antunes, Hanieh Razzaghi, Levon Utidjian, Karyn Yonekawa, Doug Coplen, Samina Muneeruddin, Bob DeFoor, Kyle O. Rove, Christopher Forrest, Christina Ching
Summary: This study evaluated the utility of diagnostic codes in screening for patients with primary hyperoxaluria (PH) and assessing their positive predictive value (PPV) in identifying children with this rare condition. The findings suggest that diagnostic codes have poor PPV, highlighting the need for caution when using large databases without source validation.
JOURNAL OF UROLOGY
(2022)
Article
Pediatrics
Hala Wannous
Summary: This study aimed to report the clinical and laboratory manifestations and outcome of PH type 1 in children. The study included 100 patients with hyperoxaluria, with slight male dominance and a median age of 1.75 years. The most common initial complaint was urolithiasis or nephrocalcinosis, kidney failure manifestations, and recurrent urinary tract infection.
PEDIATRIC NEPHROLOGY
(2023)
Article
Urology & Nephrology
Roi Bar, Efrat Ben-Shalom, Mordechai Duvdevani, Ruth Belostotsky, Martin R. Pollak, David B. Mount, Ruth Bar-Gal, Ehud Gnessin, Shay Tzur, Gary C. Curhan, Yaacov Frishberg
Summary: The study found that mutations in the HOGA1 gene do not confer a dominant phenotype of calcium-oxalate kidney stone disease or hyperoxaluria, based on research conducted on Ashkenazi Jews and non-Ashkenazi individuals.
JOURNAL OF UROLOGY
(2021)
Article
Urology & Nephrology
Jin-ai Lin, Xin Liao, Wenlin Wu, Lixia Xiao, Longshan Liu, Jiang Qiu
Summary: A retrospective statistical analysis of primary hyperoxaluria type 1 in children from June 2016 to May 2019 revealed that infant type is the most common and has higher mortality and renal failure rates. Nephrocalcinosis is an independent risk factor leading to renal insufficiency.
Editorial Material
Urology & Nephrology
Justine Bacchetta, Kyle D. Wood
Summary: This article reviews the significant progress in understanding and treating genetic primary hyperoxaluria, including the impact of gene mutations, medical therapy, and novel treatments. It also discusses the different perspectives of adult and pediatric nephrologists, as well as the challenges faced by physicians and patients in developing countries.
CLINICAL KIDNEY JOURNAL
(2022)
