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Primary hyperoxaluria

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https://www.readbyqxmd.com/read/28619084/unusual-clinical-outcome-of-primary-hyperoxaluria-type-1-in-tunisian-patients-carrying-33_34insc-mutation
#1
Ibtihel Benhaj Mbarek, Saoussen Mdimeg, Amira Moussa, Dorsaf Zellama, Hayat Kaarout, Jaouida Abdelmoula, Abdellatif Achour, Saoussen Abroug, Asma Omezzine, Ali Bouslama
BACKGROUND: Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients. METHODS: Common mutations in AGXT were tested using PCR/RFLP technique in 111 patients (68 adult, 43 children) with suspected PH1...
June 15, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28598458/multidisciplinary-cooperation-in-a-simultaneous-combined-liver-and-kidney-transplantation-patient-of-primary-hyperoxaluria-1
#2
Q Ren, W Ju, D Wang, Z Guo, M Chen, X He
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. For patients with end-stage renal disease, combined liver and kidney transplantation was needed. This report describes one patient, with a diagnosis of end-stage renal disease and primary hyperoxaluria 1 confirmed by PCR and direct sequencing with genomic DNA, received the simultaneous combined liver and kidney transplantation after seven months' waiting...
January 2017: JNMA; Journal of the Nepal Medical Association
https://www.readbyqxmd.com/read/28569194/severe-child-form-of-primary-hyperoxaluria-type-2-a-case-report-revealing-consequence-of-grhpr-deficiency-on-metabolism
#3
Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer
BACKGROUND: Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glycerate are excreted in the urine, and are a source for the formation of calcium oxalate stones that result in recurrent nephrolithiasis and less frequently nephrocalcinosis. CASE PRESENTATION: We report a case of a 10-month-old patient diagnosed with urolithiasis...
May 31, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28553045/clinical-and-genetic-profile-of-indian-children-with-primary-hyperoxaluria
#4
A Pinapala, M Garg, N Kamath, A Iyengar
Primary hyperoxaluria (PH) has heterogeneous renal manifestations in infants and children. This often leads to delay in diagnosis. In the past 3 years, genetic samples were sent for seven children with a clinical diagnosis of PH. Their medical records were reviewed for clinical presentation and outcomes. Of the seven children, three were males. The median age of presentation was 4.9 years with the youngest presenting at 3 months of age. Nephrolithiasis, the most common presentation was associated with renal dysfunction in two children...
May 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28551940/-oxalate-stones-are-prevalent-among-druze-and-muslim-arabs-in-the-galilee
#5
Limor Kalfon, Irit Weissman, Miriam Hershkovits, Nadra Nasser Samra, Nurit Edri, Morad Khayat, Mary Tanus, Shihab Shihab, Hanna Mandel, Tzipora Falik-Zaccai
INTRODUCTION: Primary Hyperoxaluria type I (PH1) is a rare autosomal recessive disease caused by lack or dysfunction of the liver peroxisomal enzyme alanine: glyoxylate aminotransferase, AGT. AIMS: To conduct clinical and genetic characterization of Druze and Muslim Arab patients with PH1 in Northern Israel. METHODS: In the last 20 years, 36 children and families were diagnosed and treated in the Nephrology-Genetic Clinic at the Galilee Medical Center...
March 2017: Harefuah
https://www.readbyqxmd.com/read/28505910/re-a-randomised-phase-i-ii-trial-to-evaluate-the-efficacy-and-safety-of-orally-administered-oxalobacter-formigenes-to-treat-primary-hyperoxaluria
#6
https://www.readbyqxmd.com/read/28435765/chronic-nephropathy-from-dietary-hyperoxaluria-sustained-improvement-of-renal-function-after-dietary-intervention
#7
Yijuan Sun, Bruce L Horowitz, Karen S Servilla, Joanna R Fair, Darlene Vigil, Kavitha Ganta, Larry Massie, Antonios H Tzamaloukas
A 56-year-old man with stable chronic kidney disease (CKD) for two years following a single episode of calcium oxalate urolithiasis developed progressive elevation of his serum creatinine concentration. Urinalysis revealed pyuria and white cell casts, a few red blood cells, minimal proteinuria, and no crystals. Urine culture was sterile. Gallium scintigraphy was consistent with interstitial nephritis. Proton pump inhibitor intake was discontinued, and a short course of oral corticosteroids was initiated. Percutaneous kidney biopsy, performed because of the continued deterioration of renal function to a minimum estimated glomerular filtration rate (eGFR) value of 15 mL/min per 1...
March 20, 2017: Curēus
https://www.readbyqxmd.com/read/28425073/molecular-therapy-of-primary-hyperoxaluria
#8
Cristina Martin-Higueras, Armando Torres, Eduardo Salido
During the last few decades, the molecular understanding of the mechanisms involved in primary hyperoxalurias (PHs) has set the stage for novel therapeutic approaches. The availability of PH mouse models has facilitated preclinical studies testing innovative treatments. PHs are autosomal recessive diseases where the enzymatic deficit plays a central pathogenic role. Thus, molecular therapies aimed at restoring such deficit or limiting the consequences of the metabolic derangement could be envisioned, keeping in mind the specific challenges posed by the cell-autonomous nature of the deficiency...
April 19, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28402768/primary-hyperoxaluria
#9
Dapeng Jiang, Hongquan Geng
A 3-year-old boy presented to the pediatric urology clinic with a 6-month history of gross hematuria and intermittent abdominal pain. Urinalysis revealed red cells, white cells, and 3+ protein. The serum creatinine level was 0.9 mg per deciliter (80 μmol per liter; normal range in 3-year-old..
April 13, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28352011/biopsy-of-small-kidneys-a-safe-and-a-useful-guide-to-potentially-treatable-kidney-disease
#10
Kamel El-Reshaid, Wael El-Reshaid, Dalal Al-Bader, Jozsef Varro, John Madda, Hosameldin Tawfik Sallam
Over the past four years, all patients with unexplained rapid progression of their renal disease were subjected to kidney biopsy, despite their small size (<9 cm), to define its etiology. Children, pregnant women, morbidly obese patients, and those with an unstable cardiovascular state, septicemia, bleeding diathesis as well as those kidney size with size <6 cm were excluded from the study. Doppler ultrasound was used to exclude renovascular/ischemic nephropathy. The procedure was performed by an interventional radiologist using a biopsy gun technique and under ultrasound guidance...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28346094/drug-library-screening-for-the-identification-of-ionophores-that-correct-the-mistrafficking-disorder-associated-with-oxalosis-kidney-disease
#11
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
https://www.readbyqxmd.com/read/28340800/long-term-results-of-living-donors-in-simultaneous-kidney-and-liver-transplantations
#12
T Unek, T Egeli, M Özbilgin, A Çelik, K Atilla, C Ağalar, N Ç Arslan, S Karademir, S Bora, H Gülay, Z S Derici, I Astarcıoğlu
INTRODUCTION: Because of the shortage of organs available for transplantation, living related sequential transplantation with the use of liver and a kidney from the same donor has emerged as a reasonable therapeutic alternative. However, there is insufficient literature about the complications that living donors experience after simultaneous kidney and liver transplantations. METHODS: From December 2001 to October 2009, 5 living donors provided simultaneous donation of livers and kidneys and 1 living donor donated first her kidney and then her liver...
April 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28302239/hyperoxaluria-after-renal-transplantation
#13
Waqar Ahmed, Abad Ur Rehman, Sumit Acharya
Primary hyperoxaluria is a rare autosomal recessive disorder, characterised by precipitation of insoluble oxalate crystals in the joints, kidneys, heart, eyes, skin, nerves, and bone marrow. The patients of primary oxaluria usually present with renal stone/nephrocalcinosis, and isolated kidney transplantation should not be done in these patients. We present a case report of 31-year lady with acute graft dysfunction due to oxaluria with no history of nephrolithiasis/nephrocalcinosis prior to renal transplantation...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28273709/-primary-hyperoxaluria-type-1-a-case-report
#14
(no author information available yet)
No abstract text is available yet for this article.
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28271480/dihydrodipicolinate-synthase-structure-dynamics-function-and-evolution
#15
F Grant Pearce, André O Hudson, Kerry Loomes, Renwick C J Dobson
Enzymes are usually comprised of multiple subunits and more often than not they are made up of identical subunits. In this review we examine lysine biosynthesis and focus on the enzyme dihydrodipicolinate synthase in terms of its structure, function and the evolution of its varied number of subunits (quaternary structure). Dihydrodipicolinate synthase is the first committed step in the biosynthesis of lysine, which occurs naturally in plants, bacteria, archaea and fungi, but is not synthesized in mammals. In bacteria, there have been four separate pathways identified from tetrahydrodipicolinate to meso-diaminopimelate, which is the immediate precursor to lysine...
2017: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/28261895/bilateral-native-nephrectomy-reduces-systemic-oxalate-level-after-combined-liver-kidney-transplant-a-case-report
#16
Vincenzo Villani, Neena Gupta, Nahel Elias, Parsia A Vagefi, James F Markmann, Elahna Paul, Avram Z Traum, Heidi Yeh
Primary hyperoxaluria type 1 (PH1) is a rare liver enzymatic defect that causes overproduction of plasma oxalate. Accumulation of oxalate in the kidney and subsequent renal failure are fatal to PH1 patients often in pediatric age. Combined liver and kidney transplantation is the therapy of choice for end-stage renal disease due to PH1. Levels of plasma oxalate remain elevated for several months after liver transplantation, as the residual body oxalate is slowly excreted. Patients with persistent hyperoxaluria after transplant often require hemodialysis, and accumulation of residual oxalate in the kidney can induce graft dysfunction...
May 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28228792/malabsorption-syndrome-as-a-rare-cause-of-nephrocalcinosis
#17
Rui Abreu, Cláudia Bento, Luís Oliveira, Teresa Morgado
Nephrocalcinosis is characterized by calcification of kidney parenchyma and can be caused by an increased amount of calcium, phosphate or oxalate in urinary excretion. We report a 35-year-old female with nephrocalcinosis. She had fitful steatorrhea since last year. Physical examination was normal. Analytic exams found normal renal function and ionogram. Primary hyperparathyroidism, renal tubular acidosis and sarcoidosis were excluded. Urinalysis showed mild hematuria, without proteinuria and 24-hour urine collection exhibited hyperoxaluria...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28217701/gut-microbiota-and-oxalate-homeostasis
#18
Marguerite Hatch
This perspective focuses on how the gut microbiota can impact urinary oxalate excretion in the context of hyperoxaluria, a major risk factor in kidney stone disease. In the genetic disease of Primary Hyperoxaluria Type 1 (PH1), an increased endogenous production of oxalate, due to a deficiency of the liver enzyme alanine-glyoxylate aminotransferase (AGT), results in hyperoxaluria and oxalate kidney stones. The constant elevation in urinary oxalate in PH1 patients ultimately leads to tissue deposition of oxalate, renal failure and death and the only known cure for PH1 is a liver or liver-kidney transplant...
January 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28202121/-oliguria-and-acute-renal-dysfunction-in-a-six-month-old-infant
#19
Ya-Jie Cui, Chun-Lan Song, Yi-Bing Cheng
The infant (a girl aged 6 months) was admitted to the hospital because of oliguria and acute renal dysfunction. The laboratory examination results showed serious metabolic acidosis and increased blood urea nitrogen and serum creatinine levels. The patient continued to be anuric after 10 days of treatment with continuous renal replacement therapy (CRRT). she died a day later. The family history showed that the patient's sister died of acute renal failure 6 months after birth. The genomic sequencing results showed AGXT mutation in the patient and confirmed the diagnosis of primary hyperoxaluria type 1 (PH1)...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28161266/clinical-spectrum-of-primary-hyperoxaluria-type%C3%A2-1-experience-of-a-tertiary-center
#20
Neveen A Soliman, Marwa M Nabhan, Safaa M Abdelrahman, Hanan Abdelaziz, Rasha Helmy, Khaled Ghanim, Hafez M Bazaraa, Ahmed M Badr, Omar A Tolba, Magd A Kotb, Khaled M Eweeda, Alaa Fayez
BACKGROUND AND AIM: Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients...
May 2017: Néphrologie & Thérapeutique
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