Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis

Robert, Thomas; Greillier, Sophie; Torrents, Julia; Raymond, Laure; Dancer, Marine; Jourde-Chiche, N.; Burtey, Stéphane; Béroud, Christophe; Mesnard, Laurent

doi:10.1016/j.ekir.2023.07.003

Cited by 5 publications

(2 citation statements)

References 42 publications

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“…[23][24][25] Recent studies have shown the added value of genetic testing to kidney biopsies. [26][27][28][29] Genetic testing has been shown to lead to a reclassification of the original clinical and/or histological diagnosis in 8%-22% of cases. [4][5][6][7]9,12,27 This underpins its value as a noninvasive tool within the diagnostic workup of CKD, where it can complement a kidney biopsy, for instance when biopsy features are nonspecific or when genetic kidney disease is suspected but the kidney biopsy has not been helpful 29 (Box 1, case 1).…”

Section: Box 1 (Continued) Casementioning

confidence: 99%

“…[26][27][28][29] Genetic testing has been shown to lead to a reclassification of the original clinical and/or histological diagnosis in 8%-22% of cases. [4][5][6][7]9,12,27 This underpins its value as a noninvasive tool within the diagnostic workup of CKD, where it can complement a kidney biopsy, for instance when biopsy features are nonspecific or when genetic kidney disease is suspected but the kidney biopsy has not been helpful 29 (Box 1, case 1). In certain situations, genetic testing can be considered for use as a first-line diagnostic tool alternative to invasive kidney biopsies, especially for patients with a higher risk of complications from biopsy or those with a strong suspicion of genetic kidney disease 3 (see "Whom to Test?"…”

Section: Box 1 (Continued) Casementioning

confidence: 99%

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The Role of Genetic Testing in Adult CKD

Knoers,

van Eerde

2024

JASN

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Mounting evidence indicates that monogenic disorders are the underlying cause in a significant proportion of chronic kidney disease patients. In recent years, the diagnostic yield of genetic testing in these patients has increased significantly as a result of revolutionary developments in genetic sequencing techniques and sequencing data analysis. Identification of disease-causing genetic variant(s) in chronic kidney disease patients may facilitate prognostication and personalized management, including nephroprotection and decisions around kidney transplantation, and is crucial for genetic counseling and reproductive family planning. A genetic diagnosis in a chronic kidney disease patient allows for screening of at-risk family members, which is also important for determining their eligibility as kidney transplant donors. Despite evidence for clinical utility, increased availability, and data supporting the cost-effectiveness of genetic testing in chronic kidney disease, especially when applied early in the diagnostic process, many nephrologists do not use genetic testing to its full potential because of multiple perceived barriers. Our aim in this paper is to empower nephrologists to (further) implement genetic testing as a diagnostic means in their clinical practice, based on the most recent insights and exemplified by patient vignettes. We stress why genetic testing is of significant clinical benefit to many chronic kidney disease patients, provide recommendations for which patients to test and which test(s) to order, give guidance about interpretation of genetic testing results, and highlight the necessity for and essential components of pre- and post-test genetic counseling.

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Section: Box 1 (Continued) Casementioning

confidence: 99%

Section: Box 1 (Continued) Casementioning

confidence: 99%

The Role of Genetic Testing in Adult CKD

Knoers,

van Eerde

2024

JASN

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Clinicopathological characteristics and outcomes of patients with unexplained renal impairment: A single center study

Ellisy,

Tony,

Ismail

et al. 2024

Nefrología

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FRET-Based Dual-Color Carbon Dot Ratiometric Fluorescent Sensor Enables the Smartphone-Integrated Device for Noninvasive and Portable Diagnosis of Chronic Kidney Disease

Sun,

Liang,

Kong

et al. 2024

Anal. Chem.

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Cystatin C (Cys C), a crucial renal disease marker for chronic kidney disease (CKD), plays a vital role in early diagnosis and treatment guidance. However, most current methods for detecting Cys C rely on a single signal and find it difficult to perform noninvasive and portable diagnosis. Here, we developed a ratiometric fluorescent carbon dot (CD) detection system for point-of-care testing (POCT) of Cys C through fluorescence resonance energy transfer (FRET). The detection is based on the hydrolysis effect of papain on a bovine serum albumin (BSA) scaffold and the specific inhibitory effect of Cys C on papain, endowing high-resolution color variance. Moreover, a low-cost, portable, yet reliable smartphone-assisted miniaturized device for real-time quantitative POCT of Cys C has been developed with a limit of detection (LOD) as low as 0.4 μg/mL. This sensing platform can effectively differentiate patients from healthy volunteers, which facilitates self-screening for healthy individuals and home monitoring for CKD patients.

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Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis

Cited by 5 publications

References 42 publications

The Role of Genetic Testing in Adult CKD

The Role of Genetic Testing in Adult CKD

Clinicopathological characteristics and outcomes of patients with unexplained renal impairment: A single center study

FRET-Based Dual-Color Carbon Dot Ratiometric Fluorescent Sensor Enables the Smartphone-Integrated Device for Noninvasive and Portable Diagnosis of Chronic Kidney Disease

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