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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...
August 25, 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...
July 18, 2016: 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...
June 29, 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...
June 3, 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 (eGFR) < 15 ml/min/1.73m2...
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
Gökhan Moray, Tugan Tezcaner, Figen Özçay, Esra Baskın, Aydıncan Akdur, Mahir Kırnap, Sedat Yıldırım, Gülnaz Arslan, Mehmet Haberal
OBJECTIVES: Primary hyperoxaluria, especially type 1, is a severe disease with multisystem morbidity and high mortality. We present 3 primary hyperoxaluria type 1 patients who underwent liver transplant, including living-donor liver transplant or combined liver and kidney transplant in our institution. CASE REPORTS: Patients who underwent liver transplant or combined liver/kidney transplant at our institution were evaluated, retrospectively. Between January 2002 and 2013, there were 3 patients who underwent transplant for primary hyperoxaluria...
April 2015: Experimental and Clinical Transplantation
Mansoor C Abdulla, Jemshad Alungal, Asiq Siddik, Mohthash Musambil
No abstract text is available yet for this article.
April 2015: Indian Journal of Pathology & Microbiology
Yimin Lu, Olivier Bonny
Oxalate is a highly insoluble metabolic waste excreted by the kidneys. Disturbances of oxalate metabolism are encountered in enteric hyperoxaluria (secondary to malabsorption, gastric bypass or in case of insufficient Oxalobacter colonization), in hereditary hyperoxaluria and in intoxication (ethylene glycol, vitamin C). Hyperoxaluria causes a large spectrum of diseases, from isolated hyperoxaluria to kidney stones and nephrocalcinosis formation, eventually leading to kidney failure and systemic oxalosis with life-threatening deposits in vital organs...
March 25, 2015: Praxis
Mar Llamas-Velasco, Luis Requena
Panniculitis with lipid crystallization within adipocytes may be seen in several disorders, including crystal-storing histiocytosis, gouty panniculitis, subcutaneous fat necrosis of the newborn, post-steroid panniculitis, sclerema neonatorum, oxalosis and subcutaneous fungal infections by mucormycosis, zygomycosis or aspergillosis. Panniculitis at the sites of subcutaneous injection of drugs are frequent, but to our knowledge no crystals have been described in the drug-induced panniculitis at the sites of subcutaneous injections...
June 2015: Journal of Cutaneous Pathology
Tomomi Kogiso, Katsutoshi Tokushige, Etsuko Hashimoto, Chiharu Miyakata, Makiko Taniai, Nobuyuki Torii, Akiko Omori, Yoshihito Kotera, Hiroto Egawa, Masakazu Yamamoto, Masao Nagata, Keiko Shiratori
Primary hyperoxaluria (PH) is a rare, autosomal recessive disorder characterized by overproduction of oxalate caused by a deficiency in a hepatic enzyme. The excess oxalate combines with calcium in the kidneys to form deposits of calcium oxalate, which can lead to nephrocalcinosis and renal failure. PH type 1 (PH1), the most common form of this disease, is caused by a deficiency of the liver-specific enzyme alanine/glyoxylate aminotransferase (AGT). Liver transplantation is performed as a definitive therapy for PH to correct the enzyme defect...
December 2015: Hepatology Research: the Official Journal of the Japan Society of Hepatology
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
Philippe Compagnon, Philippe Metzler, Didier Samuel, Christophe Camus, Patrick Niaudet, Antoine Durrbach, Philippe Lang, Daniel Azoulay, Christophe Duvoux, Francois Bayle, Joseph Rivalan, Pierre Merville, Gerard Pascal, Eric Thervet, Albert Bensman, Lionel Rostaing, Georges Deschenes, Jeff Morcet, Cyrille Feray, Karim Boudjema
Primary hyperoxaluria type 1 (PH1) is a hepatic metabolic defect leading to end-stage renal failure. The posttransplant recurrence of kidney disease can suggest a need for combined liver-kidney transplantation (LKT). However, the risk of LKT is theoretically far higher than the risk of kidney-alone transplantation (KAT). An unselected consecutive series of 54 patients with PH1 was analyzed according to the type of transplantation initially performed between May 1979 and June 2010 at 10 French centers. The duration of dialysis, extrarenal lesions, age, and follow-up were similar between the groups...
December 2014: Liver Transplantation
Elke Wühl, Karlijn J van Stralen, Christoph Wanner, Gema Ariceta, James Goya Heaf, Anna K Bjerre, Runolfur Palsson, Gabrielle Duneau, Andries J Hoitsma, Pietro Ravani, Franz Schaefer, Kitty J Jager
BACKGROUND: In recent years, increased efforts have been undertaken to address the needs of patients with rare diseases by international initiatives and consortia devoted to rare disease research and management. However, information on the overall prevalence of rare diseases within the end-stage renal disease (ESRD) population is limited. The aims of this study were (i) to identify those rare diseases within the ERA-EDTA Registry for which renal replacement therapy (RRT) is being provided and (ii) to determine the prevalence and incidence of RRT for ESRD due to rare diseases, both overall and separately for children and adults...
September 2014: Nephrology, Dialysis, Transplantation
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