Your browser doesn't support javascript.
loading
Diagnostic Yield of Exome Sequencing in Early-Onset Hypertensive Nephropathy in Adults.
Serre, Justine; Doreille, Alice; Raymond, Laure; Suc, Gaspard; Bobot, Mickaël; Dancer, Marine; Rafat, Cédric; Mesnard, Laurent.
Afiliación
  • Serre J; Service de Soins Intensifs Néphrologiques et Rein Aigu, Hôpital Tenon, Assistance Publique - Hôpitaux de Paris, Paris, France, justine.serre@gmail.com.
  • Doreille A; INSERM UMR1155, Sorbonne Université, Hôpital Tenon, Paris, France, justine.serre@gmail.com.
  • Raymond L; Service de Soins Intensifs Néphrologiques et Rein Aigu, Hôpital Tenon, Assistance Publique - Hôpitaux de Paris, Paris, France.
  • Suc G; Faculté de Médecine, Sorbonne Université, Paris, France.
  • Bobot M; French Intensive Renal Network-FIRN, Paris, France.
  • Dancer M; Département de Génétique, Biomnis, Lyon, France.
  • Rafat C; Departments of Cardiology, Bichat Hospital, AP-HP, Paris, France.
  • Mesnard L; Université de Paris, UMRS1148, INSERM, Paris, France.
Am J Nephrol ; 55(4): 468-471, 2024.
Article en En | MEDLINE | ID: mdl-38471460
ABSTRACT

INTRODUCTION:

Hypertensive nephrosclerosis (HN) ranks as one of the most frequent causes of chronic kidney disease (CKD), but its very existence has repeatedly been called into question, especially in young adults. Its diagnostic framework is established chiefly on non-specific clinical criteria, and its defining histopathological set of features is in fact shared by numerous other conditions. Genetic testing based on exome sequencing (ES) has emerged as a comprehensive tool to detect Mendelian diseases in timely fashion in nephrology, with a significant number of re-established diagnoses. The aim of this study was to investigate the diagnostic yield of ES in patients with a clinical diagnosis of hypertensive nephropathy.

METHOD:

Since September 2018, ES has been readily available as part of the routine diagnostic work-up in our institution. The indication of ES includes hypertensive nephropathy of early onset (i.e., <45 years old). We retrospectively collected the ES data performed in the context of hypertensive nephropathy in our institution between September 2018 and February 2021.

RESULTS:

A total of 128 patients were sequenced in the context of hypertensive nephropathy with early onset. The chief indications of ES were an early onset of CKD (47%), family history of kidney disease (8%), or both (18%). We detected diagnostic variants in 19 of the 128 patients (15%), encompassing a total of 13 different monogenic disorders. The diagnostic yield of ES was lower in patients of African ancestry (diagnostic yield of 7 vs. 30% in non-African ancestry patients, p < 0.001).

CONCLUSIONS:

The high diagnostic yield of ES (15%) in a population of patients thought to have HN casts further doubts on the validity of the existing diagnosis criteria, including histological criteria, supposed to characterize the condition. This was especially true in patients with no African ancestry, where ES positivity reached 30%.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuenciación del Exoma / Hipertensión Renal Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Nephrol Año: 2024 Tipo del documento: Article Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuenciación del Exoma / Hipertensión Renal Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Nephrol Año: 2024 Tipo del documento: Article Pais de publicación: Suiza