scholarly journals Calciphylaxis or vascular oxalosis?

2020 ◽  
Author(s):  
Skye El-Saygeh ◽  
Douglas Roese ◽  
Sharon M Moe
Keyword(s):  
Kidney Disease ◽  
Primary Hyperoxaluria ◽  
Abrupt Onset ◽  
Limb Amputation ◽  
Peripheral Vascular ◽  
End Stage Kidney Disease ◽  
Primary Hyperoxaluria Type 1 ◽  
End Stage ◽  
Hyperoxaluria Type

Abstract We report the case of a 31-year-old female with primary hyperoxaluria type 1 with end-stage kidney disease who developed severe peripheral vascular disease leading to limb amputation initially thought to be secondary to calciphylaxis. However, polarized review of the pathologic specimen revealed calcium oxalate deposition in the lumen of blood vessels. This unusual presentation of systemic oxalosis demonstrates the adverse consequences of elevations of serum oxalate in patients with hyperoxaluria and that levels can acutely worsen with abrupt onset of kidney failure.

scholarly journals Primary Hyperoxaluria Type 1 (PH1) Presenting With End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report

2021 ◽  
Vol 8 ◽  
pp. 205435812110589
Author(s):  
Penelope Poyah ◽  
Joel Bergman ◽  
Laurette Geldenhuys ◽  
Glenda Wright ◽  
Noreen M. Walsh ◽  
...  
Keyword(s):  
Case Report ◽  
Kidney Disease ◽  
Primary Hyperoxaluria ◽  
End Stage Kidney Disease ◽  
Primary Hyperoxaluria Type 1 ◽  
History Of ◽  
End Stage ◽  
Recurrent Nephrolithiasis ◽  
Hyperoxaluria Type

Rationale: Primary hyperoxaluria (PH) is a rare autosomal recessive disorder more commonly diagnosed in children or adolescents. Owing to its rarity and heterogeneous phenotype, it is often underrecognized, resulting in delayed diagnosis, including diagnosis after end-stage kidney disease (ESKD) has occurred or recurrence after kidney-only transplantation. Case Presentation: A 40-year-old Caucasian Canadian woman with a history of recurrent nephrolithiasis since age 19 presented with ESKD and cutaneous symptoms. She had no known prior kidney disease and no family history of kidney disease or nephrolithiasis. Diagnosis: A diagnosis of primary hyperoxaluria type 1 (PH1) due to homozygous splice donor mutation (AGXT c.680+1G>A) was made with kidney and cutaneous pathology demonstrating calcium oxalate deposition and ultrasound suggestive of nephrocalcinosis. Interventions: She was initiated on frequent, high-efficiency, high-flux conventional hemodialysis and oral pyridoxine. Lumasiran was added 11 months later, after she developed bilateral swan-neck deformities. Outcomes: After 14 months of high-intensity dialysis and 3 months of lumasiran, there have been no signs of renal recovery, and extra-renal involvement has increased with progressive swan-neck deformities, reduced cardiac systolic function, and pulmonary hypertension. The patient has been waitlisted for kidney-liver transplantation. Teaching Points: This case report describes an adult presentation of PH1. The case highlights the importance of timely workup of metabolic causes of recurrent nephrolithiasis or nephrocalcinosis in adults which can be a presenting sign of PH and genetic testing for PH to facilitate early diagnosis and treatment especially in the era of novel therapeutics that may alter disease course and outcomes. The case also demonstrates the value of testing for PH in adults presenting with unexplained ESKD and a history of recurrent nephrolithiasis or nephrocalcinosis due to implications for organ transplantation strategy and presymptomatic family screening.

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 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

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

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.

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