Results 31 to 40 of about 4,024 (132)

A rare case of hyperoxaluria presenting with acute liver injury and stone-free kidney injury

Kidney Research and Clinical Practice, 2015
A 49-year-old woman visited the clinic because of acute hepatitis and acute kidney injury with decreased urine output presenting microscopic hematuria and proteinuria.
Si-eun Kim, Seon-Jae Kim, Seong Taek Chu, Seung Hee Yang, Yon Su Kim, Ran-hui Cha   +5 more
doaj   +1 more source

Oxalate Nephropathy in a Patient With Chronic Pancreatitis and Recent Surgery: A Clinical Conundrum

Kidney Medicine
Calcium oxalate nephropathy is a rare condition with both primary and secondary causes. Primary hyperoxaluria, an inherited disorder, leads to liver oxalate overproduction, whereas secondary hyperoxaluria, or enteric hyperoxaluria, may be multifactorial ...
Robert Seby, Krista Grennan, Jacob Henderson, Cene Ovincy, Fadi Salem, John Lieske, Ivan Porter, LaTonya Hickson   +7 more
doaj   +1 more source

Bone marrow oxalosis: An unusual cause of cytopenia in end-stage renal disease; report of two cases

Indian Journal of Pathology and Microbiology, 2018
Systemic oxalosis can be either primary or secondary hyperoxaluria. Oxalosis is a phenomenon in which calcium oxalate crystals deposit in various visceral organs leading to bone marrow (BM) failure and recurrent renal stones.
Seema Sharma, Ram Nawal Rao, Krushna Chandra Pani, Paramita Paul   +3 more
doaj   +1 more source

Kidney stones in primary hyperoxaluria: new lessons learnt. [PDF]

PLoS ONE, 2013
To investigate potential differences in stone composition with regard to the type of Primary Hyperoxaluria (PH), and in relation to the patient's medical therapy (treatment naïve patients versus those on preventive medication) we examined twelve kidney ...
Dorrit E Jacob, Bernd Grohe, Michaela Geßner, Bodo B Beck, Bernd Hoppe   +4 more
doaj   +1 more source

Role of misfolding in rare enzymatic deficits and use of pharmacological chaperones as therapeutic approach

Frontiers in Bioscience-Landmark, 2021
Cells have evolved sophisticated molecular control systems to maximize the efficiency of the folding process. However, any subtle alteration of the environment or the protein can lead to misfolding or affect the conformational plasticity of the native ...
Gioena Pampalone, Silvia Grottelli, Leonardo Gatticchi, Emilia Maria Lombardi, Ilaria Bellezza, Barbara Cellini   +5 more
doaj   +1 more source

Case Report: Sustained Efficacy of Lumasiran at 18 Months in Primary Hyperoxaluria Type 1

Frontiers in Pediatrics, 2022
Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate, ultimately responsible for kidney stones, kidney failure and systemic oxalosis.
Benedetta Chiodini, Nathalie Tram, Brigitte Adams, Elise Hennaut, Ksenija Lolin, Khalid Ismaili   +5 more
doaj   +1 more source

Hyperoxaluria by the AGXT gene: a case report

Journal of Medical Case Reports
Background This report details a case of AGXT gene mutation in a male patient, 9 years 6 months old, Portuguese ethnicity, with history of nephrocalcinosis and recurrent nephrolithiasis in childhood, which progressed to chronic kidney disease.
Alessandra Vitorino Naghettini, Alice Leite Mesquita, Andrielle Nunes Santos, Juliana Vieira Peixoto Moreira, Maysa Campos Mota de Oliveira, Patrícia Marques Fortes   +5 more
doaj   +1 more source

Application of multivariate joint modeling of longitudinal biomarkers and time-to-event data to a rare kidney stone cohort

Journal of Clinical and Translational Science, 2023
Background: Time-dependent Cox proportional hazards regression is a popular statistical method used in kidney disease research to evaluate associations between biomarkers collected serially over time with progression to kidney failure.
Lisa E. Vaughan, John C. Lieske, Dawn S. Milliner, Phillip J. Schulte   +3 more
doaj   +1 more source

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   +1 more source

Combined liver-kidney transplant in a 21-month-old child with type 1 primary hyperoxaluria—The perioperative challenges

Indian Journal of Anaesthesia, 2020
Primary hyperoxaluria type 1(PH 1) is the most common indication for a paediatric combined liver-kidney transplant. It is a technically challenging procedure. We describe the challenges in managing a 21-month-old female child weighing 7 kg for a combined
Nidhin Eldo, Sangeeth P Srinivasan, Nisha Rajmohan, Mathew Jacob   +3 more
doaj   +1 more source