Results 1 to 10 of about 5,205 (214)

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   +4 more sources

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

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   +2 more sources

Probiotics and Their Functional Role in Mitigating Antinutrient Effects In Vivo-A Systematic Review and Meta-Analysis. [PDF]

Compr Rev Food Sci Food Saf
ABSTRACT Antinutrients like phytic acid and oxalates reduce mineral bioavailability by forming insoluble complexes with iron, zinc, and calcium. Probiotic supplementation may counteract these effects through enzymatic activity (e.g., phytase, oxalate decarboxylase) and microbiota modulation. This PRISMA‐based meta‐analysis evaluated 27 in vivo studies (
Olar-Pop L, Cornea-Cipcigan M, Ciont CC, Suharoschi R, Pop RM, Pop OL.   +5 more
europepmc   +2 more sources

Hyperoxaluria by the AGXT gene: a case report [PDF]

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   +2 more sources

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

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   +2 more sources

Isolated Kidney Transplant in Primary Hyperoxaluria-1 Enabled by Small Interfering RNA (siRNA) Therapy. Is It Time for Change? Case Report and Review of the Literature. [PDF]

Pediatr Transplant
ABSTRACT Background Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder characterized by excessive oxalate production that leads to nephrocalcinosis or nephrolithiasis and progressive kidney failure, associated with systemic oxalosis that is not reversed by dialysis. Pharmacological treatment is limited.
Habeeb SM, Simkova E, Al-Akash S, Awad HS, Yamin H, Eid LA, Aldhaheri WS, Concepcion W, Bitzan M.   +8 more
europepmc   +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.
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