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Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection

  • Published:2023-04-21 Issue:11 Volume:16 Page:2299-2301
  • ISSN:2048-8505
  • Container-title:Clinical Kidney Journal
  • language:en
  • Short-container-title:

Author:

Rafat Cédric123,Doreille Alice142,Dancer Marine5,Werion Alexis16,Benoist Jean-François75,Raymond Laure8,Mesnard Laurent1423

Affiliation:

1. Service des soins intensifs, Cliniques universitaires Saint Luc , Brussels , Belgium

2. French Intensive Renal Network , France

3. Centre national de Référence des Microangiopathies Thrombotiques

4. Faculté de médecine, Sorbonne Université , Paris , France

5. Faculté de Pharmacie, Université Paris Saclay , France

6. Faculté de médecine, Université Catholique de Louvain , Belgium

7. Service des explorations fonctionnelles, Hôpital Universitaire Necker-Enfants Malades , Assistance Publique – Hôpitaux de Paris , France

8. Département de génétique, Eurofins Biomnis , Lyon , France

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Reference12 articles.

1. Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice. Nephrol Dial Transplant;Knoers,2022

2. Thrombotic microangiopathy in aHUS and beyond: clinical clues from complement genetics;Fakhouri;Nat Rev Nephrol,2021

3. Cobalamin C deficiency induces a typical histopathological pattern of renal arteriolar and glomerular thrombotic microangiopathy;Lemoine;Kidney Int Rep,2018

4. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency;Cornec-Le Gall;Am J Kidney Dis,2014

5. Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists;Kalantari;Orphanet J Rare Dis,2022
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