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Primary Hyperoxaluria [PDF]

International Journal of Nephrology, 2011
Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1, the most common form, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine, glyoxylate aminotransferase (AGT ...
Jérôme Harambat, Sonia Fargue, Justine Bacchetta, Cécile Acquaviva, Pierre Cochat   +4 more
doaj   +5 more sources

Primary hyperoxaluria: a case series [PDF]

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

Primary hyperoxaluria in infants

Saudi Journal of Kidney Diseases and Transplantation, 2016
The infantile form of primary hyperoxaluria type-1 (PH-1) is characterized by a rapid progression to the end-stage renal disease (ESRD) due to both increased oxalate load and reduced glomerular filtration rate.
Manel Jellouli, Mariem Ferjani, Kamel Abidi, Chokri Zarrouk, Ouns Naija, J Abdelmoula, Tahar Gargah   +6 more
doaj   +3 more sources

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism. [PDF]

J Inherit Metab Dis
ABSTRACT Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine‐glyoxylate aminotransferase mislocalization.
Keskinen T, Jalil S, Gümüşoğlu I, Juutila J, Kestilä N, Kuuluvainen E, Hietakangas V, Balboa D, Wartiovaara K, Hyvönen ME.   +9 more
europepmc   +2 more sources

Late-onset retinal oxalosis in primary hyperoxaluria type 2 [PDF]

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

Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1 [PDF]

Kidney International Reports
Introduction: Primary hyperoxaluria type 1 (PH1) is known for its variable clinical course, even within families. However, the extent of this heterogeneity has not been well-studied.
Lisa J. Deesker, Hazal A. Karacoban, Elisabeth L. Metry, Sander F. Garrelfs, Justine Bacchetta, Olivia Boyer, Laure Collard, Arnaud Devresse, Wesley Hayes, Sally-Anne Hulton, Cristina Martin-Higueras, Shabbir H. Moochhala, Thomas J. Neuhaus, Jun Oh, Larisa Prikhodina, Przemyslaw Sikora, Michiel J.S. Oosterveld, Jaap W. Groothoff, Giorgia Mandrile, Bodo B. Beck   +19 more
doaj   +2 more sources

Skeletal features of primary hyperoxaluria type 1, revisited

Journal of Children's Orthopaedics, 2008
Purpose The purpose of this study was to describe the skeletal manifestations of primary hyperoxaluria type 1 (PH1), the most common of the primary hyperoxalurias. Methods We clinically and radiographically reviewed 12 consecutive patients diagnosed with
Samer El Hage, Ismat Ghanem, André Baradhi, Chebel Mourani, Samir Mallat, Fernand Dagher, Khalil Kharrat   +6 more
doaj   +2 more sources

The Primary Hyperoxalurias [PDF]

Journal of the American Society of Nephrology, 2001
The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to the resulting severe hyperoxaluria, recurrent urolithiasis or progressive nephrocalcinosis are principal manifestations.
Marangella, M, PETRARULO, MICHELE, Vitale, C, Bagnis, C, Berutti, S, Ramello, A, Amoroso, A   +6 more
openaire   +5 more sources

Lanthanum carbonate to control plasma and urinary oxalate level in type 1 primary hyperoxaluria?

IJU Case Reports, 2021
Introduction The therapy to reduce urinary oxalate excretion in primary hyperoxaluria type 1 is still required. Case presentation A 37‐year‐old hemodialyzed man suffered from systemic oxalosis secondary to primary hyperoxaluria type 1 exhibited a drastic
Agnieszka Pozdzik, Cristina David, Jelle Vekeman, Frederik Tielens, Michel Daudon   +4 more
doaj   +1 more source

Primary Hyperoxaluria [PDF]

Clinical Journal of the American Society of Nephrology, 2020
Living with primary hyperoxaluria—a rare genetic disease with excess oxalate production leading to frequent kidney stones, kidney impairment, and oxalosis—presents many challenges to patients, caregivers, and their families.
Jennifer E, Lawrence, Debra J, Wattenberg   +1 more
openaire   +4 more sources