scholarly journals Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1

2016 ◽  
Vol 24 (4) ◽  
pp. 770-778 ◽  
Author(s):  
Chaitali Dutta ◽  
Nicole Avitahl-Curtis ◽  
Natalie Pursell ◽  
Marita Larsson Cohen ◽  
Benjamin Holmes ◽  
...  
Keyword(s):  
Mouse Model ◽  
Calcium Oxalate ◽  
Primary Hyperoxaluria ◽  
Glycolate Oxidase ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing

2019 ◽  
pp. 28-39
Author(s):  
Kimberly Coughlan ◽  
Rajanikanth Maganti ◽  
Andrea Frassetto ◽  
Christine DeAntonis ◽  
Meredith Wolfrom ◽  
...  
Keyword(s):  
Mouse Model ◽  
Gene Editing ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

scholarly journals Primary Hyperoxaluria Type 1 With Systemic Calcium Oxalate Deposition

2012 ◽  
Vol 138 (suppl 1) ◽  
pp. A002-A002
Author(s):  
Nadja Burns ◽  
Brian Castillo ◽  
Aditya Gupta ◽  
Brandy McKelvy ◽  
Sozos Papasozomenos
Keyword(s):  
Calcium Oxalate ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

scholarly journals Calcium oxalate crystalluria points to primary hyperoxaluria type 1

2016 ◽  
Vol 89 (1) ◽  
pp. 250 ◽  
Author(s):  
José Antonio T. Poloni ◽  
Clotilde D. Garcia ◽  
Liane N. Rotta ◽  
Mark A. Perazella
Keyword(s):  
Calcium Oxalate ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

Encapsulating Peritoneal Sclerosis in a Patient with Primary Hyperoxaluria Type 1: A Case Report

2010 ◽  
Vol 30 (1) ◽  
pp. 108-111
Author(s):  
Jill Vanmassenhove ◽  
Raymond Vanholder ◽  
Ramses Forsyth ◽  
Annemieke Dhondt
Keyword(s):  
Renal Failure ◽  
Peritoneal Dialysis ◽  
Calcium Oxalate ◽  
Primary Hyperoxaluria ◽  
Calcium Oxalate Crystals ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Oxalate Crystals ◽  
Hyperoxaluria Type

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder caused by a defect in glyoxylate metabolism attributable to low or absent activity of the liver-specific peroxisomal enzyme alanine/glyoxylate aminotransferase. This defect leads to enhanced conversion of glyoxylate to poorly soluble oxalate, which is then excreted into the urine. This process may lead to deposition of calcium oxalate crystals in many tissues as well as in the kidneys, resulting in nephrolithiasis, nephrocalcinosis, and/or renal failure.We present a 39-year-old patient with end-stage renal failure due to PH1, who was admitted with symptoms of feeling bloated, vomiting, diarrhea, and abdominal pain related to encapsulating peritoneal sclerosis (EPS). He had been treated with peritoneal dialysis for a total period of 5 years.EPS is a rare condition characterized by fibrosis and adhesions of the peritoneum to loops of the small intestine and has been described secondary to treatment with peritoneal dialysis. It also occurs in a variety of other clinical conditions such as autoimmune diseases and peritoneal and intra-abdominal malignancies.The calcium oxalate crystals found in the peritoneal fascia of this particular patient may suggest a causative relationship between crystal deposits and evolution to fibrosis and sclerosis of the peritoneum. The degree of impact of the peritoneal dialysis treatment itself on the development of EPS, however, is uncertain.

Correction of Hyperoxaluria by Liver Repopulation With Hepatocytes in a Mouse Model of Primary Hyperoxaluria Type-1

2008 ◽  
Vol 85 (9) ◽  
pp. 1253-1260 ◽  
Author(s):  
Jinlan Jiang ◽  
Eduardo C. Salido ◽  
Chandan Guha ◽  
Xia Wang ◽  
Rituparna Moitra ◽  
...  
Keyword(s):  
Mouse Model ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Liver Repopulation ◽  
Hyperoxaluria Type

scholarly journals Case Report: Sustained Efficacy of Lumasiran at 18 Months in Primary Hyperoxaluria Type 1

2022 ◽  
Vol 9 ◽  
Author(s):  
Benedetta Chiodini ◽  
Nathalie Tram ◽  
Brigitte Adams ◽  
Elise Hennaut ◽  
Ksenija Lolin ◽  
...  
Keyword(s):  
Kidney Stones ◽  
Primary Hyperoxaluria ◽  
Glycolate Oxidase ◽  
Urinary Oxalate ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type ◽  
Observation Period

Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate, ultimately responsible for kidney stones, kidney failure and systemic oxalosis. Lumasiran, is a liver-directed RNA interference therapeutic agent. It has been shown to reduce hepatic oxalate production by targeting glycolate oxidase, and to dramatically reduce oxalate excretion.Care Report: We present the case of a teenager patient affected by PH1, who entered in the lumasiran compassionate use program. The patient had a rapid and sustained decrease in urinary oxalate/creatinine ratio, with a mean reduction after lumasiran administration of about 70%. During the 18 months long follow-up, urinary oxalate remained low, reaching nearly normal values. Plasma oxalate also decreased dramatically. Normal levels were reached immediately after the first dose and remained consistently low thereafter. During the same follow-up period, eGFR remained stable at about 60 ml/min/1.73 m2, but no new kidney stones were observed. Existing kidney stones did not increase in size. The patient did not suffer renal colic events and did not require further urological interventions.Conclusion: In our severely affected PH1 patient, lumasiran proved to be very effective in rapidly and consistently reducing plasma oxalate and urinary excretion to normal and near-normal levels, respectively. In the 18 months long follow-up post-lumasiran, the eGFR remained stable and the patient showed clinical improvements. As far as we know, this report covers the longest observation period after initiation of this novel RNAi therapy.

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