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[Kidney disease in cobalamin C deficiency]
Mathilde Lemoine1, Steven Grangé2, Dominique Guerrot3
1Service de néphrologie, dialyse et transplantation, CHU de Rouen, 1, rue de Germont, 76031 Rouen, France.
Nephrologie & Therapeutique
|May 28, 2019
Summary
Cobalamin C deficiency (cblC), a vitamin B12 metabolism disorder, often causes kidney problems like thrombotic microangiopathy. Early screening for cblC in patients with kidney issues is crucial for timely treatment and improved outcomes.
Area of Science:
- Genetics and Metabolism
- Nephrology
- Pediatric Medicine
Background:
- Cobalamin C deficiency (cblC) is the most common inherited disorder of vitamin B12 metabolism, caused by MMACHC gene mutations.
- cblC leads to hyperhomocysteinemia, hypomethioninemia, and methylmalonic aciduria, with early-onset and late-onset phenotypes.
- Kidney lesions in cblC deficiency are not well-defined, particularly thrombotic microangiopathy (TMA).
Purpose of the Study:
- To define the kidney lesions associated with cblC deficiency.
- To investigate the clinical presentation, prognosis, and treatment outcomes of cblC deficiency with renal manifestations.
- To emphasize the importance of screening for cblC in patients with renal TMA.
Main Methods:
- Retrospective analysis of 38 cases of cblC deficiency with kidney involvement.
- Review of clinical data, including age at presentation, symptoms, and renal function.
- Analysis of kidney biopsy findings in patients with TMA.
Main Results:
- Thirty-eight cases of cblC deficiency with kidney lesions were described, presenting from infancy to adulthood.
- Most patients (38/38) presented with renal TMA and acute renal failure; 21 had confirmed TMA lesions on biopsy.
- Early-onset cblC forms had a poor prognosis linked to renal lesion severity, while late-onset forms showed better outcomes with treatment, including dialysis weaning.
Conclusions:
- Renal TMA is a significant manifestation of cblC deficiency across all age groups.
- Screening for cobalamin metabolism disorders, including cblC, should be considered in all patients with renal TMA, irrespective of age or neurological symptoms.
- Early diagnosis and treatment initiation are critical for improving the prognosis of cblC deficiency-associated kidney disease.
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