Gill Rumsby

Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway

Bhaskar Kumar Somani, Esteban Emiliani, Thomas Martin Knoll, Giorgia Mandrile et autres

Somani, Bhaskar K.; Emiliani, Esteban; Knoll, Thomas; Mandrile, Giorgia; Bhojani, Naeem; Bin Hamri, Saeed; Bres-Niewada, Ewa; Davis, Niall F.; Gauhar, Vineet; Juliebø-Jones, Patrick; Tzelves, Lazaros; Ferraro, Pietro Manuel; Rumsby, Gill; Acquaviva, Cecile; Fuster, Daniel G.; Garrelfs, Sander F.; Hamamoto, Shuzo; Leporati, Marta; …

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#720 SMART stone MDT and patient care recommendations: the nephrologist's role in optimizing the adult high-risk kidney stone patient pathway

Pietro Manuel Ferraro, Esteban Emiliani, Thomas Martin Knoll, Giorgia Mandrile et autres

Abstract Background and Aims Kidney stone formers are at risk of loss of kidney function over time and have substantial morbidity as well as reduced quality of life (QoL) [1,2]. There is a need for earlier diagnosis, alongside metabolic investigation, to determine …

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Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1

Leonardo Gatticchi, Ilaria Bellezza, Gill Rumsby, Michelle Glover et autres

Primary hyperoxaluria type 1 (PH1) is caused by the functional deficit of alanine: glyoxylate aminotransferase (AGT1), resulting in a build-up of oxalate. PH1 is diagnosed through the detection of biallelic pathogenic/likely pathogenic variations in the AGXT gene. However, the widespread availability of …

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Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported

Giorgia Mandrile, Gill Rumsby, Veronica Sciannameo, Andrea G. Cogal et autres

ABSTRACT Background Primary hyperoxaluria (PH), a rare autosomal recessive disease of oxalate accumulation in the kidneys, is caused by biallelic pathogenic changes in three known genes: AGXT (PH1), GRHPR (PH2) and HOGA1 (PH3). Methods To better understand the overall risk of developing …

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A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT

Luana Ruta, Andrea G. Cogal, Gioena Pampalone, David J. Sas et autres

Human alanine:glyoxylate aminotransferase (AGT) is a liver peroxisomal enzyme that metabolizes glyoxylate, the oxalate precursor, to glycine. AGT deficiency, due to recessive pathogenic changes in the AGXT gene, results in calcium oxalate accumulation and kidney stones, a condition known as primary hyperoxaluria …

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SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway

Bhaskar Kumar Somani, Esteban Emiliani, Thomas Martin Knoll, Giorgia Mandrile et autres

PURPOSE: The SMART Stone Multidisciplinary Team (MDT) recommendations aim to provide guidance on the role of the MDT in the early identification, referral and assessment of adult high-risk recurrent kidney stone formers to advance patient care. METHODS: Recommendations were developed by the …

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P240 – SMART Stone multidisciplinary team (MDT) and patient care: Recommendations for the adult high-risk kidney stone patient pathway

Bhaskar Kumar Somani, Esteban Emiliani, Thomas Martin Knoll, Giorgia Mandrile et autres

Clinical practice recommendations for primary hyperoxaluria: An expert consensus statement from ERKNet and OxalEurope

Jaap W. Groothoff, Elisabeth L. Metry, Lisa J. Deesker, Sander F. Garrelfs et autres

No abstract

Genetic Prevalence Estimates for All Types of Primary Hyperoxaluria

Giorgia Mandrile, Gill Rumsby, Veronica Sciannameo, Peter Christian Harris et autres

Background: Primary hyperoxaluria is a rare disorder caused by biallelic pathogenic changes in 3 known genes (AGXT (PH1), GRHPR (PH2), HOGA1 (PH3)). Affected patients have marked hyperoxaluria, frequent kidney stones, and are at high risk for kidney failure. Patients are often diagnosed …

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Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

Jaap W. Groothoff, Ella Metry, Lisa J. Deesker, Sander F. Garrelfs et autres

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Genetic assessment in primary hyperoxaluria: why it matters

Giorgia Mandrile, Bodo Bernhard Beck, Cécile Acquaviva, Gill Rumsby et autres

Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences. Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type. Patients with PH type 1 (PH1) have a worse prognosis …

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Inherited Metabolic Disease and the Kidney

Asheeta Gupta, Gill Rumsby, Sally‐Anne Hulton

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