Results 11 to 20 of about 4,438 (134)

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

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

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

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

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

Purslane-induced oxalate nephropathy: case report and literature review

BMC Nephrology, 2023
Background The kidney is particularly vulnerable to toxins due to its abundant blood supply, active tubular reabsorption, and medullary interstitial concentration.
Xiangtuo Wang, Xiaoyan Zhang, Liyuan Wang, Ruiying Zhang, Yingxuan Zhang, Lei Cao   +5 more
doaj   +1 more source

Primary Hyperoxaluria

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   +1 more source

Compliance in patients with dietary hyperoxaluria: A cohort study and systematic review

Asian Journal of Urology, 2019
Objective: Hyperoxaluria leads to calcium oxalate crystal formation and subsequent urolithiasis. This study aims to analyse the effect of treatment compliance in hyperoxaluria, firstly by analysis of patients with non-primary hyperoxaluria and secondly ...
Derek B. Hennessey, Ned Kinnear, Gilbert Rice, David Curry, Siobhan Woolsey, Brian Duggan   +5 more
doaj   +1 more source