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Qiuyue Ma, Stefanie Steiger, Hans-Joachim Anders
Sodium glucose transporter (SGLT)-2 inhibition has renoprotective effects in diabetic kidney disease. Whether similar effects can be achieved also in non-diabetic kidney disease is speculative. Chronic kidney disease was induced in C57BL/6N mice by feeding an oxalate-rich diet for 14 days, known to induce nephrocalcinosis-related tubular atrophy and interstitial fibrosis without directly affecting the glomerular compartment. Empagliflozin treatment started from day 0 of oxalate feeding had no effect on the decline of glomerular filtration rate, crystal deposition, blood urea nitrogen or serum creatinine levels on day 7 and 14...
April 2017: Physiological Reports
Shurong Hou, Franck Madoux, Louis Scampavia, Jo Ann Janovick, P Michael Conn, Timothy P Spicer
Primary hyperoxaluria is the underlying cause of oxalosis and is a life-threatening autosomal recessive disease, for which treatment may require dialysis or dual liver-kidney transplantation. The most common primary hyperoxaluria type 1 (PH1) is caused by genetic mutations of a liver-specific enzyme alanine:glyoxylate aminotransferase (AGT), which results in the misrouting of AGT from the peroxisomes to the mitochondria. Pharmacoperones are small molecules with the ability to modify misfolded proteins and route them correctly within the cells, which may present an effective strategy to treat AGT misrouting in PH1 disorders...
January 1, 2017: SLAS Discovery
Aydincan Akdur, Mahir Kirnap, Ebru H Ayvazoglu Soy, Figen Ozcay, Gokhan Moray, Gulnaz Arslan, Mehmet Haberal
OBJECTIVES: This study sought to evaluate the efficacy of liver transplant for unusual liver diseases. MATERIALS AND METHODS: The results of 476 patients who underwent liver transplant from 1988 to January 2015 were retrospectively analyzed. Two hundred forty-five of them were adult patients and 231 of them were pediatric. Thirty-one patients had unusual liver disease. RESULTS: Of the 31 patients with unusual liver disease, 9 (29%) were adult and 22 (71%) were pediatric patients...
February 2017: Experimental and Clinical Transplantation
Agnes B Fogo, Mark A Lusco, Behzad Najafian, Charles E Alpers
No abstract text is available yet for this article.
March 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Bernd Hoppe, Patrick Niaudet, Rémi Salomon, Jérôme Harambat, Sally-Anne Hulton, William Van't Hoff, Shabbir H Moochhala, Georges Deschênes, Elisabeth Lindner, Anna Sjögren, Pierre Cochat
BACKGROUND: Primary hyperoxaluria (PH) is a rare, genetic disorder which involves the overproduction of endogenous oxalate, leading to hyperoxaluria, recurrent urolithiasis and/or progressive nephrocalcinosis and eventually resulting in kidney failure and systemic oxalosis. The aim of this trial was to investigate whether treatment involving an oxalate-metabolising bacterium (Oxalobacter formigenes) could reduce urinary oxalate excretion in PH patients. METHODS: The efficacy and safety of O...
May 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Sara B Strauss, Temima Waltuch, William Bivin, Frederick Kaskel, Terry L Levin
Primary hyperoxaluria is a rare autosomal recessive inborn error of metabolism with three known subtypes. In primary hyperoxaluria type 1, the most common of the subtypes, a deficiency in the hepatic enzymes responsible for the metabolism of glycoxylate to glycine, leads to excessive levels of glyoxylate, which is converted to oxalate. The resultant elevation in serum and urinary oxalate that characterizes primary hyperoxaluria leads to calcium oxalate crystal deposition in multiple organ systems (oxalosis)...
January 2017: Pediatric Radiology
Marília Rodrigues, José Carlos Cardoso, José A P da Silva
No abstract text is available yet for this article.
November 3, 2016: Rheumatology
Pelin Börcek, B Handan Özdemir, Eda Yılmaz Akçay, Mehmet Haberal
Splenic peliosis is an exceedingly rare complication following liver and kidney transplant, with few previously reported cases. A 24-year-old man with chronic renal and hepatic failure due to primary oxalosis underwent concomitant renal and hepatic transplant. On the eighth day of successful transplant, he showed signs and symptoms of hypovolemia with suspicion of intra-abdominal bleeding. Diagnostic laparotomy was performed, yielding splenic rupture, and a splenectomy was performed. Macroscopically, the spleen was ruptured, and the cut surface displayed multiple parenchymal blood-filled cysts...
2016: Experimental and Clinical Transplantation
Saoussen M'dimegh, Asma Omezzine, Mériam Ben Hamida-Rebai, Cécile Aquaviva-Bourdain, Ibtihel M'barek, Wissal Sahtout, Dorsaf Zellama, Geneviéve Souche, Abdellatif Achour, Saoussen Abroug, Ali Bouslama
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. The aim of this study was to determine the molecular etiology of kidney transplant loss in a young Tunisian individual. We present a young man with end-stage renal disease who received a kidney allograft and experienced early graft failure...
November 2016: Transplant Immunology
Abigail Liebow, Xingsheng Li, Timothy Racie, Julia Hettinger, Brian R Bettencourt, Nader Najafian, Patrick Haslett, Kevin Fitzgerald, Ross P Holmes, David Erbe, William Querbes, John Knight
Primary hyperoxaluria type 1 (PH1), an inherited rare disease of glyoxylate metabolism, arises from mutations in the enzyme alanine-glyoxylate aminotransferase. The resulting deficiency in this enzyme leads to abnormally high oxalate production resulting in calcium oxalate crystal formation and deposition in the kidney and many other tissues, with systemic oxalosis and ESRD being a common outcome. Although a small subset of patients manages the disease with vitamin B6 treatments, the only effective treatment for most is a combined liver-kidney transplant, which requires life-long immune suppression and carries significant mortality risk...
February 2017: Journal of the American Society of Nephrology: JASN
Hassan Bouzidi, Ali Majdoub, Michel Daudon, Mohamed Fadhel Najjar
Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxalate and oxalate with recessive autosomal transmission. As a result, an increased endogenous production of oxalate leads to exessive urinary oxalate excretion. PH type 1, the most common form, is due to a deficiency of the peroxisomal enzyme alanine: Glyoxylate aminotransferase (AGT) in the liver. PH type 2 is due to the deficiency of the glyoxylate reductase/hydroxypyruvate réductase, present in the cytosol of hepatocytes and leucocytes...
November 2016: Néphrologie & Thérapeutique
Yuguan Liu, Lawrence S Weisberg, Craig B Langman, Amanda Logan, Krystal Hunter, Deepali Prasad, Jose Avila, Thaliga Venkatchalam, Jeffrey S Berns, Garry J Handelman, William D Sirover
OBJECTIVES: Ascorbic acid (AA) supplementation may increase hemoglobin levels and decrease erythropoiesis-stimulating agent dose requirement in patients with end stage renal disease (ESRD). While plasma AA levels >100μM may be supratherapeutic, levels of at least 30μM may be needed to improve wound healing and levels may need to reach 70μM to optimize erythropoiesis. Of concern, oxalate (Ox), an AA metabolite, can accumulate in ESRD. Historically, if plasma Ox levels remain ≥30μM, oxalosis was of concern...
October 2016: Clinical Biochemistry
Shirin Elizabeth Khorsandi, Marianne Samyn, Akhila Hassan, Hector Vilca-Melendez, Simon Waller, Rukshana Shroff, Geoff Koffman, William Van't Hoff, Alastair Baker, Anil Dhawan, Nigel Heaton
Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disease that culminates in ESRF. Pre-emptive liver transplantation (pLTx) treats the metabolic defect and avoids the need for kidney transplantation (KTx). An institutional experience of pediatric PH1 LTx is reported and compared to the literature. Between 2004 and 2015, eight children underwent pLTx for PH1. Three underwent pLTx with a median GFR of 40 (30-46) mL/min/1.73 m(2) and five underwent sequential combined liver-kidney transplantation (cLKTx); all were on RRT at the time of cLKTx...
June 2016: Pediatric Transplantation
K F Akl, J H Albaramki, I Hazza, R Haddidi, S H Saleh, R Haddad, S Ajarmeh, R S Al-Assaf, E Al-Qadi
Objective: The purpose of this study was to find out the aetiology of end-stage renal failure (ESRF) in children in Jordan. Subjects and Methods: This was a multicentre retrospective study at five participating hospitals. Data collection included medical record review for age, gender, aetiology of ESRF, modality of renal replacement therapy (RRT) and outcome. End-stage renal failure was defined as estimated glomerular filtration rate < 15 mL/min/1.73m(2). Results: There were 275 children with ESRF: 131males and 144 females...
May 11, 2015: West Indian Medical Journal
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
Guillaume Bollée, Pierre Cochat, Michel Daudon
PURPOSE OF REVIEW: To provide transplant physicians with a summary of the pathogenesis and diagnosis of adenine phosphoribosyl transferase (APRT) deficiency and primary hyperoxaluria and, focussed on kidney transplantation, and to discuss interventions aimed at preventing and treating the recurrence of crystalline nephropathy in renal transplant recipients. SOURCE OF INFORMATION: Pubmed literature search. SETTING: Primary hyperoxaluria and APRT deficiency are rare inborn errors of human metabolism...
2015: Canadian Journal of Kidney Health and Disease
Justine Bacchetta, Delphine Farlay, Kariman Abelin-Genevois, Ludivine Lebourg, Pierre Cochat, Georges Boivin
Deposition of calcium oxalate crystals in the kidney and bone is a hallmark of systemic oxalosis. Since the bone compartment can store massive amounts of oxalate, patients present with recurrent low-trauma fractures, bone deformations, severe bone pains and specific oxalate osteopathy on plain X-ray. Bone biopsy from the iliac crest displays specific features such as oxalate crystals surrounded by a granulomatous reaction due to an invasion of bone surface by macrophages. We present data obtained in 10 samples from 8 patients with oxalosis (16-68 years) who underwent iliac crest bone biopsy and bone quality analysis using modern methods (microradiography, microindentation, Fourier Transform InfraRed Microspectroscopy, transmission electron microscopy) in addition to histomorphometry...
December 2015: Bone
Leila Benmoussa, Marion Renoux, Loredana Radoï
Chronic renal failure can give rise to a wide spectrum of oral manifestations, owing mainly to secondary hyperparathyroidism complicating this disease. However, any systemic disease responsible for kidney failure can produce oral manifestations, which can be misdiagnosed. This report describes the case of a 40-year-old male patient referred for oral assessment before kidney and liver transplantation. He had primary hyperoxaluria complicated by end-stage renal failure and secondary hyperparathyroidism. Panoramic radiography indicated not only external root resorption, but also maxillary and mandibular radiolucencies consistent with brown tumors...
November 2015: Journal of Oral and Maxillofacial Surgery
Gomathy Narasimhan, Sanjay Govil, Rajesh Rajalingam, Chandrasekaran Venkataraman, Naresh P Shanmugam, Mohamed Rela
No abstract text is available yet for this article.
October 2015: Liver Transplantation
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
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