1. Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy
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Steven Grangé, Dominique Guerrot, Damien Ambrosetti, Mathilde Lemoine, David Cassiman, Valérie Châtelet, Arnaud François, Emilie Cornec-Le Gall, Jean-François Benoist, Marion Rabant, Georges Deschênes, HSBC France, HSBC, Equipe de Recherche sur les Rationalités Philosophiques et les Savoirs (ERRAPHIS), Université Toulouse - Jean Jaurès (UT2J), Epidémiosurveillance de protozooses à transmission alimentaire et vectorielle (ESCAPE), Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université de Reims Champagne-Ardenne (URCA), Service de soins intensifs [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), CHRU - Service de néphrologie, dialyse et transplantation rénale, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hôpital Pasteur [Nice] (CHU), AP-HP, Service de Néphrologie Pédiatrique, Hôpital Robert Debré, Paris, Laboratoire de Biochimie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Service de Néphrologie [Rouen], Guerrot, Dominique, Service de Pathologie, Normandie Université (NU)-Normandie Université (NU), Département de Pathologie [CHU Necker], Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Néphrologie-Dialyse-Transplantation rénale [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), University Hospitals Leuven [Leuven], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Service d' Anatomopathologie, Centre Hospitalier Universitaire de Nice (CHU Nice), AP-HP Hôpital universitaire Robert-Debré [Paris], Endothélium, valvulopathies et insuffisance cardiaque (EnVI), Université de Rouen Normandie (UNIROUEN), and Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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0301 basic medicine ,Pathology ,medicine.medical_treatment ,[SDV]Life Sciences [q-bio] ,030232 urology & nephrology ,HOMOCYSTEINE ,urologic and male genital diseases ,[SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology ,PULMONARY-HYPERTENSION ,ACTIVATION ,0302 clinical medicine ,cobalamin C deficiency ,ComputingMilieux_MISCELLANEOUS ,Kidney ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Glomerular basement membrane ,genetic kidney disease ,Urology & Nephrology ,HOMOCYSTINURIA CBLC ,female genital diseases and pregnancy complications ,thrombotic microangiopathy ,3. Good health ,medicine.anatomical_structure ,Renal pathology ,Nephrology ,COMBINED METHYLMALONIC ACIDURIA ,METHIONINE SYNTHASE DEFICIENCY ,Life Sciences & Biomedicine ,EXPRESSION ,medicine.medical_specialty ,Thrombotic microangiopathy ,METABOLISM ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,03 medical and health sciences ,Clinical Research ,renal pathology ,medicine ,Renal replacement therapy ,Dialysis ,Science & Technology ,business.industry ,medicine.disease ,[SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology ,030104 developmental biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,DEFECT ,HEMOLYTIC-UREMIC SYNDROME ,CBLC ,business ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,Kidney disease - Abstract
INTRODUCTION: Cobalamin C (cblC) deficiency is the most common inborn error of vitamin B12 metabolism. Renal failure attributed to thrombotic microangiopathy (TMA) has occasionally been described in the late-onset presentation of cblC deficiency, but kidney lesions associated with cblC deficiency remain poorly defined. This study aims to describe the characteristics of kidney disease in cblC deficiency, and to provide a comparative histological analysis with cblC-independent renal TMA. METHODS: We performed a multicenter retrospective study including 7 patients with cblC deficiency and 16 matched controls with cblC-independent TMA. The patients included were aged 6 to 26 years at the time of the first manifestations. All patients presented with acute renal failure, proteinuria, and hemolysis; 5 patients required dialysis. RESULTS: The histological study revealed arteriolar and glomerular TMA in all patients. After comparison with the cblC-independent TMA control group, a vacuolated aspect of the glomerular basement membrane and the intensity of glomerular capillary wall IgM deposits were more present in cblC deficiency patients than in controls. Six patients were treated with hydroxycobalamin. All of them improved, with disappearance of hemolysis, and 3 of the 4 patients requiring renal replacement therapy were weaned off dialysis. CONCLUSION: This study provides a precise description of kidney pathology in cblC deficiency. Due to major therapeutic implications, we suggest that patients with renal TMA be screened for cblC deficiency regardless of age, particularly when the kidney biopsy provides evidence of long-lasting TMA, including a vacuolated aspect of the glomerular basement membrane and glomerular capillary wall IgM deposition. ispartof: KIDNEY INTERNATIONAL REPORTS vol:3 issue:5 pages:1153-1162 ispartof: location:United States status: published
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- 2018