Results 21 to 30 of about 4,438 (134)

Late onset primary hyperoxaluria after kidney transplantation in a 36-year-old woman [PDF]

Journal of Nephropathology
Primary hyperoxaluria is a rare congenital autosomal recessive disorder disrupting the glyoxylate metabolism pathway in the liver. Type1 primary hyperoxaluria is caused by a deficiency in a specific liver enzyme namely, alanine glyoxylate ...
Amirhesam Alirezaei, Hamed Ebrahimibagha, Mahmoud Parvin, Majid Ali Asgari, Leyla Bagheri   +4 more
doaj   +1 more source

Unusual cause of renal failure in infancy: Primary hyperoxaluria

Journal of Pediatric Critical Care, 2015
Background: Primary hyperoxaluria is a rare disease characterized by the excessive production and accumulation of oxalate in the body. Methods: We described the case of an infant with primary hyperoxaluria type who had end-stage renal failure in the ...
Kanchan Channawar, V S V Prasad
doaj   +1 more source

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   +1 more source

Anemia in patient with primary hyperoxaluria and bone marrow involvement by oxalate crystals

Hematology/Oncology and Stem Cell Therapy, 2018
We present a rare case of anaemia secondary to bone marrow infiltration by oxalate crystals and renal failure in a patient diagnosed with primary hyperoxaluria. In our case, the anaemia was recovered after the double liver and kidney transplantation, the
Vitaliy Mykytiv, Fiz Campoy Garcia
doaj   +1 more source

Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria

Journal of Nepal Medical Association, 2017
Primary hyperoxaluria type 1 is an autosomal recessive hereditary glyoxylate metabolism disorder characterized by excessive production of oxalate, caused by the deficiency of liver specific peroxisomal enzyme: alanineglyoxylate aminotransferase.
Ren Qingqi, Ju Weiqiang, Wang Dongping, Guo Zhiyong, Chen Maogen, He Xiaoshun   +5 more
doaj   +1 more source

Primary Hyperoxaluria in Korean Pediatric Patients [PDF]

Childhood Kidney Diseases, 2019
Background Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1–3 (PH1–PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively.
Yunsoo Choe, Jiwon M. Lee, Ji Hyun Kim, Myung Hyun Cho, Seong Heon Kim, Joo Hoon Lee, Young Seo Park, Hee Gyung Kang, Il Soo Ha, Hae Il Cheong   +9 more
doaj   +1 more source

The Struggling Odyssey of Infantile Primary Hyperoxaluria

Frontiers in Pediatrics, 2021
Introduction: Oxalate overproduction in Primary Hyperoxaluria type I (PH1) leads to progressive renal failure and systemic oxalate deposition. In severe infantile forms of PH1 (IPH1), end-stage renal disease (ESRD) occurs in the first years of life ...
Adrien Guillaume, Adrien Guillaume, Benedetta Chiodini, Brigitte Adams, Karin Dahan, Georges Deschênes, Khalid Ismaili   +6 more
doaj   +1 more source

Probiotics in urolithiasis

Journal of Education, Health and Sport, 2018
Urolithiasis is considered a civilization disease. The prevalence is estimated at 5-20% of the population. There are many litogenesis risk factors such as hypercalciuria, hypophosphaturia, low urine pH or increased excretion of oxalates with urine - a ...
Monika Kusz, Adam Alzubedi, Joanna Popiołek, Michał Konopelko   +3 more
doaj   +3 more sources

Unusual cause of cerebral calcifications in an 8‐year‐old girl

Clinical Case Reports, 2023
Key Clinical Message Genetic counseling and genetic screening for hyperoxaluria should be recommended for children with urinary lithiasis for early management to avoid progression to oxalosis especially if there is a family history of lithiasis.
Abir Boussetta, Manel Jellouli, Rym Maamouri, Tahar Garagah   +3 more
doaj   +1 more source

A stone in the bone

JIMD Reports, 2021
Primary hyperoxaluria (PH) is a group of diseases due to mutations in genes coding for enzymes involved in oxalate metabolism. Three types of PH are identified depending on the gene mutated.
Matthieu Halfon, Pierre Cochat, Sebastien Kissling, Nicolas Dattner, Laurence deLeval, Fadi Fakhouri, Menno Pruijm, Olivier Bonny   +7 more
doaj   +1 more source