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Primary Hyperoxaluria

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17 papers 0 to 25 followers
By P O Pediatrics, Nephrology
Pardis Nematollahi, Fereshteh Mohammadizadeh
Inborn errors of metabolism cause increase of metabolites in serum and their deposition in various organs including bone marrow. Primary hyperoxaluria (PH) is a rare inborn error in the pathway of glyoxylate metabolism which causes excessive oxalate production. The disease is characterized by widespread deposition of calcium oxalate (oxalosis) in multiple organs. Urinary tract including renal parenchyma is the initial site of deposition followed by extrarenal organs such as bone marrow. This case report introduces a 54-year-old woman with end stage renal disease presenting with debilitating fatigue and pancytopenia...
2015: Case Reports in Hematology
Demetrius Ellis, Jessica Lieb
We describe 3 children presenting with hematuria, dysuria or kidney stones, and hyperoxaluria believed to be related to ingestion of excessive amounts of almond milk products. Our investigation of the oxalate content of several popular plant-based milk substitutes indicates that almond milk products are a particularly rich source of dietary oxalate. All genitourinary and urinary metabolic disturbances resolved after discontinuation of almond milk ingestion. Therefore, pediatricians should be aware of this potential link...
November 2015: Journal of Pediatrics
Dean G Assimos
No abstract text is available yet for this article.
October 2015: Journal of Urology
Pierre Cochat, Sally-Anne Hulton, Cécile Acquaviva, Christopher J Danpure, Michel Daudon, Mario De Marchi, Sonia Fargue, Jaap Groothoff, Jérôme Harambat, Bernd Hoppe, Neville V Jamieson, Markus J Kemper, Giorgia Mandrile, Martino Marangella, Stefano Picca, Gill Rumsby, Eduardo Salido, Michael Straub, Christiaan S van Woerden
Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate accumulates leading to systemic oxalosis. The diagnosis is based on clinical and sonographic findings, urine oxalate assessment, enzymology and/or DNA analysis...
May 2012: Nephrology, Dialysis, Transplantation
Ahmed M Alkhunaizi, Nouriya A Al-Sannaa, Wasim F Raslan
Primary hyperoxaluria type I (PH I) is a rare genetic disorder that leads to end stage renal disease (ESRD) at an early age due to excessive deposition of calcium oxalate in the kidney. Combined liver-kidney transplantation (LKTx) has been advocated as the treatment of choice for patients with PH I who have progressive renal disease. With combined LKTx the risk of early renal failure secondary to oxalate deposition is anticipated. Here we report a patient with PH I who developed ESRD and underwent a combined LKTx...
2012: JIMD Reports
Pierre Cochat, Gill Rumsby
New England Journal of Medicine, Volume 369, Issue 7, Page 649-658, August 2013.
August 15, 2013: New England Journal of Medicine
Dorrit E Jacob, Bernd Grohe, Michaela Geßner, Bodo B Beck, Bernd Hoppe
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 stones from ten PH I and six stones from four PH III patients. Unfortunately, no PH II stones were available for analysis. The study on this set of stones indicates a more diverse composition of PH stones than previously reported and a potential dynamic response of morphology and composition of calculi to treatment with crystallization inhibitors (citrate, magnesium) in PH I...
2013: PloS One
Giorgia Mandrile, Christiaan S van Woerden, Paola Berchialla, Bodo B Beck, Cécile Acquaviva Bourdain, Sally-Anne Hulton, Gill Rumsby
Primary hyperoxaluria type 1 displays a heterogeneous phenotype, likely to be affected by genetic and non-genetic factors, including timeliness of diagnosis and quality of care. As previous genotype-phenotype studies were hampered by limited patient numbers the European OxalEurope Consortium was constituted. This preliminary retrospective report is based on 526 patients of which 410 have the AGXT genotype defined. We grouped mutations by the predicted effect as null, missense leading to mistargeting (G170R), and other missense, and analyzed their phenotypic correlations...
December 2014: Kidney International
D Siegal, W S Su, D DaBreo, M Puglia, L Gregor, A S Gangji
Primary hyperoxaluria type-1 (PH1) is a rare inherited autosomal recessive disorder in which a deficiency of the hepatic enzyme alanine-glyoxylate aminotransferase leads to endogenous oxalate overproduction, renal failure, systemic oxalate deposition and death. As hemodialysis provides insufficient oxalate clearance, patients ultimately require both liver and kidney transplantation for correction of the metabolic abnormality and oxalate excretion. Herein, we describe a young adult male with end-stage renal disease and systemic oxalosis causing progressive disabling multi-organ dysfunction while awaiting transplantation...
2011: International Journal of Organ Transplantation Medicine
Kengo Sasaki, Seisuke Sakamoto, Hajime Uchida, Takanobu Shigeta, Masatoshi Matsunami, Hiroyuki Kanazawa, Akinari Fukuda, Atsuko Nakazawa, Mai Sato, Shuichi Ito, Reiko Horikawa, Tadashi Yokoi, Noriyuki Azuma, Mureo Kasahara
Several transplant strategies for PH1 have been proposed, and LT is performed to correct the metabolic defects. The patients with PH1 often suffer from ESRD and require simultaneous LKT, which leads to a long wait due to the shortage of suitable organ donors. Five patients with PH1 underwent LDLT at our institute. Three of the five patients were under dialysis before LDLT, while the other two patients were categorized as CKD stage 3. An isolated LDLT was successfully performed in all but our first case, who had complicated postoperative courses and consequently died due to sepsis after retransplantation...
February 2015: Pediatric Transplantation
Sonia Fargue
The renal outcome in patients with primary hyperoxaluria type 1 is partly determined by AGXT mutations, including but not limited to the p.Gly170Arg mutation. The study by Mandrile et al. reports on the largest cohort of patients genotyped yet, with long-term renal survival and medical treatment by pyridoxine. In addition to the common p.Gly170Arg mutation, three other mutations were shown to be potentially associated with slower evolution.
December 2014: Kidney International
Guido Filler
No abstract text is available yet for this article.
February 2015: Pediatric Transplantation
Mohamed S Al Riyami, Badria Al Ghaithi, Nadia Al Hashmi, Naifain Al Kalbani
Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. Clinical features at presentation are heterogeneous even in children from the same family; this study was conducted to determine the clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral center in Oman...
2015: International Journal of Nephrology
Bhavna Bhasin, Hatice Melda Ürekli, Mohamed G Atta
Hyperoxaluria is characterized by an increased urinary excretion of oxalate. Primary and secondary hyperoxaluria are two distinct clinical expressions of hyperoxaluria. Primary hyperoxaluria is an inherited error of metabolism due to defective enzyme activity. In contrast, secondary hyperoxaluria is caused by increased dietary ingestion of oxalate, precursors of oxalate or alteration in intestinal microflora. The disease spectrum extends from recurrent kidney stones, nephrocalcinosis and urinary tract infections to chronic kidney disease and end stage renal disease...
May 6, 2015: World Journal of Nephrology
Lawrence Copelovitch, Bernard S Kaplan
We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with sensorineural hearing loss. Uncharacteristically, he presented with mild acidosis, hypokalaemia and hypocalciuria as well as unilateral sensorineural hearing loss. Subsequent investigations led to the discovery of both hyperoxaluria and beta2-microglobulinuria, thereby expanding the differential diagnosis to include both primary hyperoxaluria and Dent disease. Two mutations in the ATPV1B1 gene, one of which was novel, confirmed the diagnosis of dRTA...
October 2010: NDT Plus
Casper F M Franssen, Ido P Kema, Douglas J Eleveld, Robert J Porte, Jaap J Homan van der Heide
Liver-kidney transplantation in patients with primary hyperoxaluria type 1 (PH1) and a high systemic oxalate load is often complicated by oxalate deposition in the renal allograft and loss of renal function. Intensive pre- and post-operative haemodialysis (HD) cannot completely prevent rises in plasma oxalate levels during transplantation because of rebound from saturated oxalate stores. Continuous renal replacement therapy may overcome this problem. In two PH1 patients with extensive oxalate accumulation, we found that intra-operative continuous venovenous haemodiafiltration effectively cleared oxalate and kept oxalate at relatively low levels following preoperative HD...
April 2011: NDT Plus
E D Kurt-Sukur, Z B Özçakar, S Fitöz, S Yilmaz, B Hoppe, F Yalçinkaya
Primary hyperoxaluria type 1 is a rare autosomal-recessive disease caused by the deficient activity of the liver specific enzyme alanine-glyoxylate aminotransferase. Increased endogenous oxalate production induces severe hyperoxaluria, recurrent urolithiasis, progressive nephrocalcinosis and renal failure. Here we report a 6 month old boy who presented with vomiting and decreased urine volume. He was diagnosed with chronic kidney failure at 4 months of age and peritoneal dialysis was introduced at a local hospital...
September 2015: Klinische Pädiatrie
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