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

Mathilde Lemoine1, Arnaud François2, Steven Grangé3

  • 1Nephrology Department, Rouen University Hospital, Rouen, France.

Kidney International Reports
|September 11, 2018
PubMed

Insights

Cobalamin C deficiency can cause kidney failure due to thrombotic microangiopathy (TMA). Specific kidney biopsy findings, like vacuolated glomerular basement membranes, suggest screening for this vitamin B12 metabolism disorder.

Area of Science:

  • Nephrology
  • Metabolic Disorders
  • Vascular Biology

Background:

  • Cobalamin C (cblC) deficiency is the most common inherited disorder of vitamin B12 metabolism.
  • Renal failure linked to thrombotic microangiopathy (TMA) is an infrequent complication of late-onset cblC deficiency.
  • Kidney pathology in cblC deficiency is not well-characterized.

Purpose of the Study:

  • To delineate the specific kidney disease characteristics in patients with cblC deficiency.
  • To perform a comparative histological analysis of kidney lesions in cblC deficiency versus cblC-independent TMA.

Main Methods:

  • A multicenter retrospective study involved 7 patients with cblC deficiency and 16 controls with cblC-independent TMA.
  • Patients ranged from 6 to 26 years old at symptom onset, presenting with acute renal failure, proteinuria, and hemolysis.
  • Kidney biopsies were analyzed histologically.

Main Results:

  • All patients exhibited arteriolar and glomerular TMA.
  • Compared to controls, cblC deficiency patients showed more vacuolated glomerular basement membranes and intense glomerular capillary wall IgM deposits.
  • Hydroxycobalamin treatment led to hemolysis resolution in 6 patients, and 3 of 4 requiring dialysis were weaned off.

Conclusions:

  • This study precisely describes the renal pathology associated with cblC deficiency.
  • The presence of long-standing TMA with specific histological features warrants screening for cblC deficiency in patients with renal TMA, irrespective of age.
  • Early diagnosis and treatment with hydroxycobalamin can improve renal outcomes.
Abstract

Keywords:
cobalamin C deficiencygenetic kidney diseaserenal pathologythrombotic microangiopathy

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