Unusual cause of renal failure in infancy: Primary hyperoxaluria
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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Primary hyperoxaluria in infants
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 +6 more
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A test of the hypothesis that oxalate secretion produces proximal tubule crystallization in primary hyperoxaluria type I [PDF]
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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Dietary treatment of urinary risk factors for renal stone formation. A review of CLU Working Group [PDF]
OBJECTIVE: Diet interventions may reduce the risk of urinary stone formation and its recurrence, but there is no conclusive consensus in the literature regarding the effectiveness of dietary interventions and recommendations about specific diets for ...
Bianchi, G +31 more
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Anemia in patient with primary hyperoxaluria and bone marrow involvement by oxalate crystals
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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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
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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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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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]
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]
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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