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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

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   +4 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

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

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

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.
M, Marangella, M, Petrarulo, C, Vitale, C, Bagnis, S, Berutti, A, Ramello, A, Amoroso   +6 more
openaire   +4 more sources

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

Cardiac involvement of primary hyperoxaluria accompanied by non-compaction cardiomyopathy and patent ductus arteriosus

Türk Kardiyoloji Derneği Arşivi, 2015
Primary hyperoxaluria is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in visceral organs, including the heart. We report a 19-year-old male with non- compaction cardiomyopathy combined with patent ductus arteriosus ...
Nurcan Arat, Murat Akyıldız, Gürkan Tellioğlu, Yaman Tokat   +3 more
doaj   +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