Adult-onset renal thrombotic microangiopathy and pulmonary arterial hypertension in cobalamin C deficiency

The Lancet

Volumn 386, Issue 9997, 2015, Pages 1011-1012

  Grangé, Steven ^a   Bekri, Soumeya ^a   Artaud Macari, Elise ^a   Francois, Arnaud ^a   Girault, Christophe ^a,b,d   Poitou, Anne Laure ^a   Benhamou, Ygal ^a,c   Vianey Saban, Christine ^e   Benoist, Jean Francois ^f   Châtelet, Valérie ^g   Tamion, Fabienne ^a,c,d   Guerrot, Dominique ^a,c,d  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b CHU de Rouen   (France)

^c Université Normandie de Rouen   (France)

^d UNIVERSITY OF ROUEN   (France)

^e HOSPICES CIVILS DE LYON   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g CAEN UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; COBALAMIN; COBALAMIN C; FOLINIC ACID; HYDROXOCOBALAMIN; METHYLPREDNISOLONE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; COBALAMIN C DEFICIENCY; COMPUTER ASSISTED TOMOGRAPHY; ECHOCARDIOGRAPHY; FAMILY HISTORY; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RENAL THROMBOTIC MICROANGIOPATHY; THROMBOTIC THROMBOCYTOPENIC PURPURA; VITAMIN DEFICIENCY; YOUNG ADULT; ADOLESCENT; COMPLICATION; CYANOCOBALAMIN DEFICIENCY; GENETICS;

ADOLESCENT; HUMANS; HYPERTENSION, PULMONARY; MALE; THROMBOTIC MICROANGIOPATHIES; VITAMIN B 12 DEFICIENCY;

EID: 84941368088     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(15)00076-8     Document Type: Article

References (5)

1. M Huemer, S Scholl-Burgi, K Hadaya et al. Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy Orphanet J Rare Dis 2014 161
2. S Fischer, M Huemer, M Baumgartner et al. Clinical presentation and outcome in a series of 88 patients with the cblC defect J Inherit Metab Dis 37 2014 831 840
3. E Cornec-Le Gall, Y Delmas, L De Parscau et al. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency Am J Kidney Dis 63 2014 119 123
4. M Komhoff, MT Roofthooft, D Westra et al. Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency Pediatrics 2013 e540 e544
5. SM Brunelli, KE Meyers, M Guttenberg, P Kaplan, BS Kaplan Cobalamin C deficiency complicated by an atypical glomerulopathy Pediatr Nephrol 17 2002 800 803