Skip to Main content Skip to Navigation
Journal articles

Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy

Abstract : 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.
Complete list of metadatas

Cited literature [40 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-02454020
Contributor : Dominique Guerrot <>
Submitted on : Friday, January 24, 2020 - 10:59:38 AM
Last modification on : Friday, March 27, 2020 - 2:39:55 AM
Long-term archiving on: : Saturday, April 25, 2020 - 1:40:46 PM

Identifiers

Citation

Mathilde Lemoine, Arnaud François, Steven Grange, Marion Rabant, Valérie Châtelet, et al.. Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy. Kidney International Reports, Elsevier, 2018, 3 (5), pp.1153-1162. ⟨10.1016/j.ekir.2018.05.015⟩. ⟨inserm-02454020⟩

Share

Metrics

Record views

307

Files downloads

716