Novel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report

Zhao, Yuanyuan; Yang, Yang; Zhou, Ping; Jiang, Jianzhong; Chen, Zhishui; Du, Dunfeng

doi:10.21037/tau-20-979

Cited by 3 publications

(3 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Currently, conservative treatments are unsatisfactory for the treatment of DGF secondary to PH [ 26 ]. Three patients with PH reported a reversal of the continuous increase in creatinine by oral vitamin B6 therapy [ 5 , 10 , 18 ]. This may be due to the fact that some patients with specific mutations in AGXT are sensitive to B6 treatment [ 18 , 27 ].…”

Section: Discussionmentioning

confidence: 99%

“…Three patients with PH reported a reversal of the continuous increase in creatinine by oral vitamin B6 therapy [ 5 , 10 , 18 ]. This may be due to the fact that some patients with specific mutations in AGXT are sensitive to B6 treatment [ 18 , 27 ]. To the best of our knowledge, this is the first case to report the plasma oxalate concentration of pre-continuous and post-continuous renal replacement therapy (72 h) in a patient with PH diagnosed after kidney transplantation.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Primary hyperoxaluria diagnosed after kidney transplantation: a case report and literature review

et al. 2021

View full text Add to dashboard Cite

Background Primary hyperoxaluria (PH) is a rare inherited autosomal recessive disease caused by disturbed glyoxylate metabolism. The disease is characterized by calcium oxalate crystal deposition in various organs, especially in the kidney. Due to the lack of current understanding of PH, nearly all patients are only initially diagnosed with PH when recurrent lithiasis and progressive end-stage renal disease occur. Many cases are not diagnosed in patients until renal allograft insufficiency occurs after renal transplantation. This case report and literature review aim to emphasize the need for careful pre-transplant PH screening of patients with bilateral nephrocalcinosis or nephrolithiasis. Case presentation Renal allograft insufficiency was diagnosed as PH after kidney transplantation. Here, we detail the complete clinical course, including computed tomography images of the original kidney and renal graft, histopathological images of a biopsy of the transplanted kidney, the results of laboratory and molecular genetic tests, and the treatment. In addition, we reviewed the literature from 2000 to 2021 and analyzed 19 reported cases of PH diagnosed after kidney transplantation, and provide a summary of the characteristics, complications, treatment, and prognosis of these cases. Conclusions By reviewing and analyzing these cases, we concluded that patients with a history of nephrocalcinosis or nephrolithiasis in both kidneys need preoperative screening for PH and appropriate treatment before kidney transplantation. Delayed graft function caused by PH is easily misdiagnosed as acute rejection, and needle biopsy should be performed at an early stage.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Primary hyperoxaluria diagnosed after kidney transplantation: a case report and literature review

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Precious metal catalysts possess high catalytic activity in both ORR and OER processes, and thus can be considered as the potential candidate of air cathodes for flexible ZABs. [ 92–95 ]…”

Section: The Cathodes Of Flexible Zabsmentioning

confidence: 99%

Recent Advances in Flexible Zn–Air Batteries: Materials for Electrodes and Electrolytes

et al. 2021

View full text Add to dashboard Cite

Flexible Zn–air batteries (ZABs) draw much attention due to the merits of high energy density, stability, and safety, and show potential applications for wearable devices. However, the development of flexible ZABs with great energy density, high round‐trip efficiency, and long cycle life for practical applications is highly restricted by the lack of highly active oxygen catalysts, high ion‐conducting solid‐state electrolytes, appropriate Zn anodes, and advanced battery configuration. Promising oxygen catalysts should possess both, superior oxygen reduction reaction and oxygen evolution reaction performance and can be directly used as self‐supporting cathodes without loading catalysts on support materials such as carbon cloth. In addition, electrolytes play an important role in ZABs; a good electrolyte should be in all‐solid state with high ion conductivity. Moreover, for an excellent Zn anode, it is required to stably contact the electrolyte interface during the bending process. Therefore, in this review, recent advances in ZABs are summarized, including: i) the powder and 3D self‐supporting oxygen catalysts, ii) the species of solid‐state electrolytes, and iii) the rational design of Zn anodes. Finally, the challenges and opportunities of this promising field are presented.

show abstract

Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status

Zhu,

Cheung,

Zhang

et al. 2024

Kidney Dis

View full text Add to dashboard Cite

Background: Primary hyperoxaluria (PH) is a rare autosomal recessive disorder, mainly due to the increase in endogenous oxalate production, causing a series of clinical features such as kidney stones, nephrocalcinosis, progressive impairment of renal function, and systemic oxalosis. There are three common genetic causes of glycolate metabolism anomalies. Among them, PH type 1 is the most prevalent and severe type, and early end-stage renal failure often occurs. Summary: This review summarizes primary hyperoxaluria through pathophysiology, genotype, clinical manifestation, diagnosis, and treatment options. And explore the characteristics of Chinese PH patients. Key Messages: Diagnosis of this rare disease is based on clinical symptoms, urinary or blood oxalate concentrations, liver biopsy, and genetic testing. Currently, the main treatment is massive hydration, citrate inhibition of crystallization, dialysis, liver and kidney transplantation, and pyridoxine. Recently, RNA interference drugs have also been used. In addition, technologies such as gene editing and autologous liver cell transplantation are also being developed. C.815_816insGA and c.33_34insC mutation in the AGXT gene could be a common variant in Chinese PH1 population. Mutations at the end of exon 6 account for approximately 50% of all Chinese HOGA1 mutations. Currently, the treatment of PH in China still relies mainly on symptomatic and high-throughput dialysis, with poor prognosis (especially for PH1 patients).

show abstract

Novel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report

Cited by 3 publications

References 16 publications

Primary hyperoxaluria diagnosed after kidney transplantation: a case report and literature review

Primary hyperoxaluria diagnosed after kidney transplantation: a case report and literature review

Recent Advances in Flexible Zn–Air Batteries: Materials for Electrodes and Electrolytes

Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status

Contact Info

Product

Resources

About