Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure

M'dimegh, Saoussen; Omezzine, Asma; Hamida-Rebaï, Mériam Ben; Aquaviva-bourdain, Cécile; M'barek, Ibtihel; Sahtout, W.; Zellama, D.; Souche, Geneviéve; Achour, A.; Abroug, S.; Bouslama, Ali

doi:10.1016/j.trim.2016.08.008

Cited by 6 publications

(3 citation statements)

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“…To date, 14 other cases of PH1 diagnosed after posttransplant recurrence have been reported in the literature, 2,7–16 as summarized in Table 1. The majority of these patients developed early graft failure requiring re‐initiation of chronic dialysis, and several died of complications.…”

Section: Discussionmentioning

confidence: 99%

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Primary hyperoxaluria diagnosed after kidney transplant: A review of the literature and case report of aggressive renal replacement therapy and lumasiran to prevent allograft loss

Stone

VandenHeuvel

Bondoc

et al. 2021

American Journal of Transplantation

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Primary hyperoxaluria type 1 is a rare inherited disorder caused by abnormal liver glyoxalate metabolism leading to overproduction of oxalate, progressive kidney disease, and systemic oxalosis. While the disorder typically presents with nephrocalcinosis, recurrent nephrolithiasis, and/or early chronic kidney disease, the diagnosis is occasionally missed until it recurs after kidney transplant. Allograft outcomes in these cases are typically very poor, often with early graft loss. Here we present the case of a child diagnosed with primary hyperoxaluria type 1 after kidney transplant who was able to maintain kidney function, thanks to aggressive renal replacement therapy as well as initiation of a new targeted therapy for this disease. This case highlights the importance of having a high index of suspicion for primary hyperoxaluria in patients with chronic kidney disease and nephrocalcinosis/nephrolithiasis or with end stage kidney disease of uncertain etiology, as initiating therapies early on may prevent poor outcomes.

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Section: Discussionmentioning

confidence: 99%

“…Twenty percent of patients with PH are diagnosed after reaching ESKD, and 7% after the disease recurs following kidney transplant 6 . A number of cases of primary hyperoxaluria diagnosed posttransplant have been described in the literature; unfortunately, most have resulted in early graft failure 2,7–16 …”

Section: Discussionmentioning

confidence: 99%

Primary hyperoxaluria diagnosed after kidney transplant: A review of the literature and case report of aggressive renal replacement therapy and lumasiran to prevent allograft loss

Stone

VandenHeuvel

Bondoc

et al. 2021

American Journal of Transplantation

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“…The p.Gly190Arg mutation is reported as a cause of primary hyperoxaluria 1 (PH1) [10].Gupta and colleagues reported c.568G > A; p. Gly190Arg gene mutation as a homozygous variant in AGXT (chromosome 2q37.3) which was reported as a missense variant [12]. In a study by M'dimegh and colleagues, the patient inherited the p. Gly190Arg mutation from the paternal allele [10] which is in parallel with the ndings of this study where the patient is homozygous for the p.Gly190Arg mutation and both the parental alleles were present in heterozygous form.In another research work by M'dimegh and colleagues, p. Gly190Arg was one of the three most frequent mutations found in their cohort with a frequency of 21.4% [13]. The ndings of Boussetta and companions revealed that the p.Gly190Arg mutation was the second most common mutation withan allele frequency, of 17.4 [14].The other most common mutations within the PH1 category identi ed in a study by Hashmi and colleagues were Gly350Asp and Gly82Glu [9].…”

Section: Mutational Analysis Of the Agxt Gene Causing Ph1 Across Globementioning

confidence: 99%

Molecular Analysis of the AGXT Gene Detected a Missense and Pathogenic Variant Associated with Primary Hyperoxaluria Type 1; a Case Study

saba,

Khan,

Rehman

et al. 2023

Preprint

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Background Primary Hyperoxaluria Type 1 (PH1) is an autosomal recessive genetic disorder triggered by a mutation in the alanine glyoxylate aminotransferase (AGXT) gene. Early detection of PH1 is a pre-requisite as it causes End Stage Renal Disease (ESRD) in most patients in the early stages. An eleven years old girl with a history of kidney disease and stones and with phenotypic characteristics of PH1 was brought to the laboratory. A c.568G>A mutation in AGXT gene, which is responsible for PH1, is found in a homozygous condition. Further study revealed the detection of the mutation in heterozygous form in both the parents. This study provides insight to generate more reliable genetic markers for the early detection of PH1 in a family or a population. This can lead to better and earlier treatment strategies. Case Presentation This study aimed to detect the AGXT gene mutationswhich are responsible for primary hyperoxaluriain the patient.AGXT gene screening was done in her parents for identifying the root cause and zygosity of the mutation. The AGXT gene on chromosome2q37.3was amplified via polymerase chain reaction and sequenced by Sanger sequencing. Molecular modeling and genetic change analysis was performed by using in-silico parameters. Conclusion The sequence analysis revealed the presence of a missense and pathogenic variant in the homozygous condition in the AGXT gene exon 5;c.568G>A with protein change p. Gly190Arg in the patient. Parental screening showed that the patient received one allele from her father and the other from her mother. A liver transplant followed by a kidney transplant was carried out in the patient with 6 months difference. The study emphasized that as theb mutation p.Gly190Arg is reported as a cause of PH1, this mutation can be considered an early diagnostic marker for PH1.

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Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I

Naguib,

Mansour,

Soliman

et al. 2024

Genetic Testing and Molecular Biomarkers

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Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure

Cited by 6 publications

References 47 publications

Primary hyperoxaluria diagnosed after kidney transplant: A review of the literature and case report of aggressive renal replacement therapy and lumasiran to prevent allograft loss

Primary hyperoxaluria diagnosed after kidney transplant: A review of the literature and case report of aggressive renal replacement therapy and lumasiran to prevent allograft loss

Molecular Analysis of the AGXT Gene Detected a Missense and Pathogenic Variant Associated with Primary Hyperoxaluria Type 1; a Case Study

Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I

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