Primary Hyperoxaluria Type 1 Causing End-Stage Renal Disease in a 45-Year-Old Patient

Nephron ◽  
2001 ◽  
Vol 87 (1) ◽  
pp. 80-84 ◽  
Author(s):  
T. David-Walek ◽  
C. Niederstadt ◽  
P.M. Rob ◽  
L. Fricke ◽  
K. Latta ◽  
...  
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Stage Renal Disease ◽  
End Stage ◽  
Hyperoxaluria Type

scholarly journals Primary hyperoxaluria type 1 and end-stage renal disease in a 3-month-old infant

2015 ◽  
Vol 28 (1) ◽  
pp. 60-67
Author(s):  
Yukiko Mori ◽  
Soichi Tamamura ◽  
Kenta Yamada ◽  
Sosuke Ooto ◽  
Yasuhiro Watanabe ◽  
...  
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Stage Renal Disease ◽  
End Stage ◽  
Hyperoxaluria Type

Effects of Oxalobacter formigenes in subjects with primary hyperoxaluria Type 1 and end-stage renal disease: a Phase II study

2020 ◽  
Author(s):  
Bernd Hoppe ◽  
Patricia A Pellikka ◽  
Bastian Dehmel ◽  
Ana Banos ◽  
Elisabeth Lindner ◽  
...  
Keyword(s):  
Renal Disease ◽  
Cardiac Function ◽  
End Stage Renal Disease ◽  
Primary Hyperoxaluria ◽  
Oxalobacter Formigenes ◽  
Primary Hyperoxaluria Type 1 ◽  
Stage Renal Disease ◽  
End Stage ◽  
Hyperoxaluria Type

Abstract Background In primary hyperoxaluria Type 1 (PH1), endogenous oxalate overproduction significantly elevates urinary oxalate excretion, resulting in recurrent urolithiasis and/or progressive nephrocalcinosis and often early end-stage renal disease (ESRD). In ESRD, dialysis cannot sufficiently remove oxalate; plasma oxalate (Pox) increases markedly, inducing systemic oxalate deposition (oxalosis) and often death. Interventions to reduce Pox in PH1 subjects with ESRD could have significant clinical impact. This ongoing Phase II, open-label trial aimed to evaluate whether long-term Oxabact™ (Oxalobacter formigenes, OC5, OxThera Intellectual Property AB, Sweden) lowers Pox in PH1 ESRD subjects, ameliorating clinical outcome. Methods PH1 ESRD subjects on stable dialysis regimens were examined. Subjects were administered one OC5 capsule twice daily for up to 36 months or until transplantation. Total Pox values, cardiac function and safety were evaluated. Free Pox was evaluated in a comparative non-treated PH1 dialysis group using retrospective chart reviews and analyses. Results Twelve subjects enrolled in an initial 6-week treatment phase. Following a washout of up to 4 weeks, eight subjects entered a continuation study; outcomes after 24 months of treatment are presented. After 24 months, all subjects had reduced or non-elevated Pox compared with baseline. Cardiac function improved, then stabilized. No treatment-related serious adverse events were reported. Conclusions Compared with an untreated natural control cohort, 24 months OC5 administration was beneficial to PH1 ESRD subjects by substantially decreasing Pox concentrations, and improving or stabilizing cardiac function and clinical status, without increasing dialysis frequency. OC5 was safe and well-tolerated.

scholarly journals Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria

2017 ◽  
Vol 56 (205) ◽  
pp. 175-178
Author(s):  
Ren Qingqi ◽  
Ju Weiqiang ◽  
Wang Dongping ◽  
Guo Zhiyong ◽  
Chen Maogen ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Primary Hyperoxaluria ◽  
Multidisciplinary Cooperation ◽  
Liver And Kidney ◽  
Stage Renal Disease ◽  
End Stage ◽  
Hyperoxaluria Type

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. However, there were several complications observed post surgery, such as protracted bleeding, common bile duct anastomotic stenosis, biliary calculi and recurrence of urolithiasis. All these were well solved by relevant department, and finally a satisfactory outcome was achieved. Multidisciplinary cooperation plays an important role on the PH1 patient management, especially when multiple complications are encountered. Keywords: primary hyperoxaluria type 1; end-stage renal disease; liver transplantation; kidney transplantation.

scholarly journals Late Diagnosis of Primary Hyperoxaluria by Crystals in the Bone Marrow!

2015 ◽  
Vol 1 (1) ◽  
pp. napoc.2015.1467
Author(s):  
Mohammed Hameed ◽  
Kashif Eqbal ◽  
Beena Nair ◽  
Alexander Woywodt ◽  
Aimun Ahmed
Keyword(s):  
Autosomal Recessive ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Delay In Diagnosis ◽  
The Poor ◽  
Stage Renal Disease ◽  
End Stage ◽  
Glyoxylate Aminotransferase ◽  
Hyperoxaluria Type

Primary hyperoxaluria type 1 (PH1) is a rare, inherited, autosomal recessive, metabolic disorder caused by a deficiency of peroxisomal alanine-glyoxylate aminotransferase (AGT). We describe here a case of a 57-year-old man with End Stage Renal Disease, where the late age of presentation of PH T1 due to marked heterogeneity of disease expression caused a delay in diagnosis, and we discuss the causes of the poor outcome typical of this condition

scholarly journals Case Report: Syncopal atrioventricular block complicating primary hyperoxaluria type 1

F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 914
Author(s):  
Ben Mrad Imtinene ◽  
Kamoun Sofien ◽  
Ben Mrad Melek ◽  
Zairi Ihsen ◽  
Oumaya Zeineb ◽  
...  
Keyword(s):  
Atrioventricular Block ◽  
Medical Literature ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Primary Oxalosis ◽  
Cardiac Status ◽  
End Stage ◽  
Hyperoxaluria Type

Primary hyperoxaluria (PH) type 1 is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in several organs, including the heart. Cardiac oxalosis in PH is poorly described in the medical literature. We report the case of a 42-year-old woman diagnosed with primary hyperoxaluria type 1 and end-stage renal failure who presented with syncope related to a paroxysmal third-degree atrioventricular block. The patient benefited from the implantation of a dual chamber pacemaker with a good outcome. Conduction blocks in case of primary hyperoxaluria type 1 are exceptional; in fact, less than five reports have previously been published in the medical literature. With this case, we would like to highlight the need for regular and careful monitoring of cardiac status in patients treated for primary oxalosis, especially when renal function is impaired.

scholarly journals Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report

2018 ◽  
Vol 8 (3) ◽  
pp. 223-229
Author(s):  
Asma Hasan ◽  
Sharon Maynard ◽  
Dominick Santoriello ◽  
Henry Schairer
Keyword(s):  
Gene Mutations ◽  
Factor V Leiden ◽  
Primary Hyperoxaluria ◽  
Factor V ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Stage Renal Disease ◽  
Agxt Gene ◽  
Hyperoxaluria Type

Background: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mutation in the AGXT gene, resulting in deficiency of the alanineglyoxylate:aminotransferase enzyme. It is characterized by accumulation of oxalate in the kidneys and other organs. Case Presentation: A Syrian woman with a history of nephrolithiasis and heterozygosity for factor V Leiden and prothrombin gene mutations presented with postpartum renal failure. She required initiation of renal replacement therapy at 14 weeks postpartum. Kidney biopsy showed severe acute and chronic crystalline deposition consistent with oxalate nephropathy. Genetic testing revealed a Gly170Arg mutation in the AGXT gene, confirming the diagnosis of PH1. Conclusions: The diagnosis of PH should be considered in patients with severe, recurrent calcium oxalate nephrolithiasis. Early treatment with pyridoxine reduces urinary oxalate excretion and can delay progression to end-stage renal disease (ESRD). After ESRD, intensive dialysis is needed to prevent systemic oxalate accumulation and deposition. Combined liver and kidney transplantation is curative. In our patient, we anticipate that liver transplantation will cure both the hyperoxaluria and the hypercoagulable state.

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