Article
Urology & Nephrology
Cristina Martin-Higueras, Sander F. Garrelfs, Jaap W. Groothoff, Dorrit E. Jacob, Shabbir H. Moochhala, Justine Bacchetta, Cecile Acquaviva, Marcin Zaniew, Przymyslaw Sikora, Bodo B. Beck, Bernd Hoppe
Summary: Outcome data for primary hyperoxaluria type 3 (PH3), considered a milder form of PH with lower risk of chronic kidney disease, are scarce. A retrospective analysis of the largest PH3 cohort to date revealed that PH3 is more similar to PH1 and PH2 than previously thought, presenting as early-onset, recurrent stone disease with potential kidney impairment.
KIDNEY INTERNATIONAL
(2021)
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)
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
Genetics & Heredity
Aiysha Abid, Ali Raza, Tahir Aziz, Shagufta Khaliq
Summary: This study describes new cases of HOGA1 gene pathogenic variants and provides a comprehensive overview of PH type III associated variants. The majority of reported variants are missense variants that predict a loss of function mechanism. Founder mutations have been identified in various populations, but there is no significant genotype-phenotype correlation. Nephrocalcinosis is rare in patients with disease-associated variants, and most patients experience urolithiasis in early life.
Review
Urology & Nephrology
Harjivan Kohli, Michael P. Kurtz
Summary: This review summarizes the surgical approaches for treating primary hyperoxaluria (PH) and highlights the specific considerations for each method, including shockwave lithotripsy, percutaneous nephrostolithotomy, and ureteroscopy. The potential risks and benefits of each treatment approach are evaluated, with a focus on the importance of considering the patient's renal function status when developing a treatment plan for PH stones.
CLINICAL KIDNEY JOURNAL
(2022)
Article
Urology & Nephrology
Pietro Manuel Ferraro, Chiara Caletti, Giovanna Capolongo, Marco Lombardi, Francesco Scolari, Giuseppe Vezzoli, Corrado Vitale, Giovanni Gambaro
Summary: The survey conducted in Italian Nephrology and Dialysis Centers shows the need for genetic testing in suspected cases of primary hyperoxaluria, in order to encourage early diagnosis and provide specific drug therapy for this genetic disorder.
JOURNAL OF NEPHROLOGY
(2023)
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
A. Verhulst, B. Dehmel, E. Lindner, M. E. Akerman, P. C. D'Haese
Summary: This study demonstrates that oral administration of Oxalobacter formigenes can alleviate the symptoms of hyperoxalemia and nephrocalcinosis induced by ethylene glycol, suggesting a potential benefit of Oxalobacter formigenes in primary hyperoxaluria.
Article
Pediatrics
Majid Alfadhel, Muhammad Umair, Malak A. Alghamdi, Khalid Al Fakeeh, Abdullah T. Al Qahtani, Afrah Farahat, Mohamed A. Shalaby, Jameela A. Kari, Rupesh Raina, Pierre Cochat, Khalid A. Alhasan
Summary: This retrospective study in Saudi Arabia identified AGXT gene variants as the most common type of PH, providing direction for improved patient management and further research.
PEDIATRIC NEPHROLOGY
(2023)
Article
Urology & Nephrology
Seema Hashmi, Aiysha Abid, Sajid Sultan, Sualeha Siddiq Shekhani, Ali Asghar Lanewala, Mirza Naqi Zafar
Summary: Autosomal recessive disorders are prevalent in Pakistan, especially in regions with common consanguineous marriages. This study investigated the prevalence of monogenic causes in children with nephrocalcinosis and nephrolithiasis in Karachi, Pakistan. The findings showed that the mutations observed in Pakistani patients are different and more severe than those reported in developed countries. This disease poses a major burden in developing countries, where the only treatment option of combined liver-kidney transplantation is not available.
Review
Urology & Nephrology
Sonia Fargue, Cecile Acquaviva Bourdain
Summary: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by a deficiency in a liver-specific enzyme, leading to excessive oxalate synthesis and resulting in kidney stone disease and other severe complications.
CLINICAL KIDNEY JOURNAL
(2022)
Article
Genetics & Heredity
Yining Zhao, Yongwei Li, Xiaoliang Fang, Lei He, Yanjie Fan, Hongquan Geng, Jitao Wu
Summary: This study aimed to improve the diagnostic capacity of exome sequencing for patients with primary hyperoxaluria. By performing extended analyses of non-canonical splicing site and copy number variant, the diagnostic yield was increased.
Article
Pediatrics
Wesley Hayes, David J. Sas, Daniella Magen, Hadas Shasha-Lavsky, Mini Michael, Anne-Laure Sellier-Leclerc, Julien Hogan, Taylor Ngo, Marianne T. Sweetser, John M. Gansner, Tracy L. McGregor, Yaacov Frishberg
Summary: Lumasiran treatment demonstrated effective reduction in urinary oxalate levels and maintained safety through month 12 across all weight subgroups, with continued improvements in plasma oxalate levels and kidney stone event rates remaining low.
PEDIATRIC NEPHROLOGY
(2022)
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.
Article
Transplantation
Francesco Trepiccione, Steven B. Walsh, Gema Ariceta, Olivia Boyer, Francesco Emma, Roberta Camilla, Pietro Manuel Ferraro, Dieter Haffner, Martin Konrad, Elena Levtchenko, Sergio Camilo Lopez-Garcia, Fernando Santos, Stella Stabouli, Maria Szczepanska, Velibor Tasic, Rezan Topaloglu, Rosa Vargas-Poussou, Tanja Wlodkowski, Detlef Bockenhauer
Summary: Distal renal tubular acidosis (dRTA) is a rare metabolic disorder characterized by impaired acid excretion leading to complications such as bone disease and growth failure. Adequate metabolic control with alkali supplementation is crucial, but there are challenges with treatment adherence among patients.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2021)