Targeted RNAseq from patients’ urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept DOI
Guillaume Dorval, Gérald Le Gac, Vincent Morinière

et al.

Kidney International, Journal Year: 2024, Volume and Issue: 106(3), P. 532 - 535

Published: June 27, 2024

Language: Английский

Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype DOI
Sofiane Salhi, Alice Doreille,

Marine Dancer

et al.

American Journal of Kidney Diseases, Journal Year: 2023, Volume and Issue: 83(5), P. 688 - 691

Published: Oct. 14, 2023

Language: Английский

Citations

7
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases DOI Creative Commons
Anke Schumann, Ulla T. Schultheiß, Carlos R. Ferreira

et al.

Molecular Genetics and Metabolism, Journal Year: 2023, Volume and Issue: 140(3), P. 107683 - 107683

Published: Aug. 12, 2023

Kidney disease is a global health burden with high morbidity and mortality. Causes of kidney are numerous, extending from common groups like diabetes arterial hypertension to rare conditions including inherited metabolic diseases (IMDs). Given its unique anatomy function, the target organ in about 10% known IMDs, emphasizing relevant contribution IMDs disease. The pattern injury affects all segments nephron glomerular disease, proximal distal tubular damage, cyst formation, built-up nephrocalcinosis stones as well severe malformations. We revised updated list etiologies associated involvement found 190 IMDs. This represents 14th series educational articles providing comprehensive differential diagnoses according system involvement.

Language: Английский

Citations

4
Exploring the impact and utility of genomic sequencing in established CKD DOI Creative Commons
Julia Jefferis, Andrew Mallett

Clinical Kidney Journal, Journal Year: 2024, Volume and Issue: 17(3)

Published: Feb. 21, 2024

ABSTRACT Clinical genetics is increasingly recognized as an important area within nephrology care. Clinicians require awareness of genetic kidney disease to recognize clinical phenotypes, consider use genomics aid diagnosis, and inform treatment decisions. Understanding the broad spectrum phenotypes principles genomic sequencing becoming required in nephrology, with nephrologists requiring education support achieve meaningful patient outcomes. Establishment effective resources, multi-disciplinary teams increase application care, for benefit patients their families. Novel applications chronic include pharmacogenomics translation polygenic risk scores. This review explores established emerging impacts utility disease.

Language: Английский

Citations

1
Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure DOI Creative Commons

Gavin A Esson,

Ian Logan,

Katrina M. Wood

et al.

Journal of Rare Diseases, Journal Year: 2024, Volume and Issue: 3(1)

Published: March 1, 2024

Abstract A precise diagnosis in medicine allows appropriate disease-specific management. Kidney failure of unknown aetiology remains a frequent diagnostic label within the haemodialysis unit and kidney transplant clinic, accounting for 15–20% these patients. Approximately 10% such cases may have an underlying monogenic cause failure. Modern genetic approaches can provide patients their families. search extra-renal disease manifestations is also important as this point to specific diagnosis. Here, we present two where molecular testing was performed because associated retinal phenotypes. The first patient reached at 16 years age but only presented with phenotype 59 found evidence rod-cone dystrophy. second childhood 15 developed visual difficulties photophobia 32 diagnosed cone In both cases, tests were which revealed homozygous whole-gene deletion NPHP1 -encoding nephrocystin-1, providing unifying Senior-Løken syndrome type 1. We conclude that reviewing phenotypes together targeted informative involvement interdisciplinary team advisable when managing referral other relevant specialities. long time lag lack clarity clinical evaluation our should encourage investigations every young unexplained For similar patients, more timely would allow improved management, risk assessment relatives, earlier identification manifestations.

Language: Английский

Citations

1
Targeted RNAseq from patients’ urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept DOI
Guillaume Dorval, Gérald Le Gac, Vincent Morinière

et al.

Kidney International, Journal Year: 2024, Volume and Issue: 106(3), P. 532 - 535

Published: June 27, 2024

Language: Английский

Citations

1