Results 11 to 20 of about 5,205 (214)

Late onset primary hyperoxaluria after kidney transplantation in a 36-year-old woman [PDF]

Journal of Nephropathology
Primary hyperoxaluria is a rare congenital autosomal recessive disorder disrupting the glyoxylate metabolism pathway in the liver. Type1 primary hyperoxaluria is caused by a deficiency in a specific liver enzyme namely, alanine glyoxylate ...
Amirhesam Alirezaei, Hamed Ebrahimibagha, Mahmoud Parvin, Majid Ali Asgari, Leyla Bagheri   +4 more
doaj   +2 more sources

Primary hyperoxaluria: a case series

Journal of Medical Case Reports, 2023
Background Primary hyperoxaluria (PH) is a rare genetic disorder characterized by the excessive production and accumulation of oxalate. We present five cases of PH, each exhibiting varying manifestations of the disorder including a case presenting as ...
Jawad Iqbal Rather, Rabiya Rasheed, Muzafar Maqsood Wani, Mohammad Ashraf Bhat, Imtiyaz Ahmad Wani   +4 more
doaj   +2 more sources

Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria

Journal of Nepal Medical Association, 2017
Primary hyperoxaluria type 1 is an autosomal recessive hereditary glyoxylate metabolism disorder characterized by excessive production of oxalate, caused by the deficiency of liver specific peroxisomal enzyme: alanineglyoxylate aminotransferase.
Ren Qingqi, Ju Weiqiang, Wang Dongping, Guo Zhiyong, Chen Maogen, He Xiaoshun   +5 more
doaj   +3 more sources

Primary Hyperoxaluria

New England Journal of Medicine, 2017
Hyperoxaluria is characterized by nephrolithasis and nephrocalcinosis caused by supersaturation of calcium oxalate in the urine. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Herein, we report a case of primary hyperoxaluria which is a serious though rare condition, can be suspected on the basis of ...
Dapeng, Jiang, Hongquan, Geng
core   +5 more sources

Palmar papules as a manifestation of cutaneous oxalosis in primary hyperoxaluria: A case report and review of the literature

Clinical Case Reports
Key Clinical Message Cutaneous oxalosis is a rare manifestation of systemic oxalosis, typically associated with primary or secondary hyperoxaluria. We present a rare case of a 23‐year‐old female diagnosed with primary hyperoxaluria and end‐stage renal ...
Hadi Alabdullah, Jameel Soqia, Thaer Douri   +2 more
doaj   +2 more sources

Recurrence of Crystalline Nephropathy after Kidney Transplantation in APRT Deficiency and Primary Hyperoxaluria

Canadian Journal of Kidney Health and Disease, 2015
Purpose of review: To provide transplant physicians with a summary of the pathogenesis and diagnosis of adenine phosphoribosyl transferase (APRT) deficiency and primary hyperoxaluria and, focussed on kidney transplantation, and to discuss interventions ...
Guillaume Bollée, Pierre Cochat, Michel Daudon   +2 more
doaj   +2 more sources

Opportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory

Kidney International Reports
Hyperoxaluria is a condition in which there is a pathologic abundance of oxalate in the urine through either hepatic overproduction (primary hyperoxaluria [PH]) or excessive enteric absorption of dietary oxalate (enteric hyperoxaluria [EH]). Severity can
Barbara Cellini, Michelle A. Baum, Yaacov Frishberg, Jaap W. Groothoff, Peter C. Harris, Sally A. Hulton, Felix Knauf, John Knight, John C. Lieske, W. Todd Lowther, Shabbir Moochhala, Lama Nazzal, Gregory E. Tasian, Jonathan M. Whittamore, David J. Sas   +14 more
doaj   +2 more sources

Late-onset retinal oxalosis in primary hyperoxaluria type 2

American Journal of Ophthalmology Case Reports
Purpose: To report a previously undescribed case of late-onset vision loss due to retinal oxalosis in a patient with primary hyperoxaluria type 2 (PH2).
Rupak Bhuyan, Tyler Maggio, Christie Thomas, Meenakshi Sambharia, Karen Gehrs, Timothy Boyce   +5 more
doaj   +2 more sources

Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep. [PDF]

, 2020
Severe oxalate nephropathy has been previously reported in sheep and is mostly associated with excessive oxalate in the diet. However, a rare native Dutch breed (Zwartbles) seems to be predisposed to an inherited juvenile form of primary hyperoxaluria ...
Orr, Hannah, Strugnell, Ben, Henderson, Katrina, Paris, Julia M., Scholes, Sandra, Cord Drögemüller, Ben Strugnell, Häfliger, Irene M., Katrina Henderson, Geraghty, Tim, Sandra Scholes, Reinie Dijkman, Drögemüller, Cord, Tim Geraghty, Dijkman, Reinie, Letko, Anna, Irene M. Häfliger, Anna Letko, Julia M. Paris, Hannah Orr   +19 more
core   +1 more source

A case of failure to thrive secondary to primary hyperoxaluria type 1

Radiology Case Reports, 2020
Primary hyperoxaluria type 1 is a rare genetic condition characterized by oxalate deposition in the kidneys. We report findings of an 8-month old female presenting with failure to thrive, poor oral intake, and kidney stones resulting in the diagnosis of ...
Rachel Stern, MD, Vicky Kuo, MD, Sarah Rogal, MD, MPH, Carly Barron, MD, Raidour Ahmed, MD, Bernard Goldwasser, MD   +5 more
doaj   +1 more source