Results 21 to 30 of about 7,704 (220)
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
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Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]
, 2016 Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira +17 more
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Treatment of Primary Hyperoxaluria [PDF]
Archives of Disease in Childhood, 1970 Abstract Nine patients with primary hyperoxaluria have been followed regularly for 1 to 11 years, and their treatment and progress are discussed in relation to the known natural history of the disease. 6 of them probably have the usual form of primary hyperoxaluria associated with increased glycollic acid excretion, while 3 who are sibs have the ...
C E, Dent, T C, Stamp
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A test of the hypothesis that oxalate secretion produces proximal tubule crystallization in primary hyperoxaluria type I [PDF]
, 2013 The sequence of events by which primary hyperoxaluria type 1 (PH1) causes renal failure is unclear. We hypothesize that proximal tubule (PT) is vulnerable because oxalate secretion raises calcium oxalate (CaOx) supersaturation (SS) there, leading to ...
Coe, Fredric L. +7 more
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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
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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 +5 more
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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 +6 more
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Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report [PDF]
, 2018 Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117)
Bottillo, I +5 more
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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 +9 more
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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 +3 more
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