Kidney-Limited Microangiopathy Associated with Methionine Synthase (Cobalamin G) Deficiency in a Pediatric Patient: Case Report and Review of the Literature
Thrombotic microangiopathy (TMA) is a recognized sequela of inborn errors of metabolism impacting vitamin B12 (cobalamin) synthesis. Methylmalonic aciduria and homocystinuria, cobalamin deficiency type C is a well-known etiology for TMA. TMA has only rarely previously been reported in methionine syn...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2024-09-01
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| Series: | Glomerular Diseases |
| Subjects: | |
| Online Access: | https://beta.karger.com/Article/FullText/540382 |
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| Summary: | Thrombotic microangiopathy (TMA) is a recognized sequela of inborn errors of metabolism impacting vitamin B12 (cobalamin) synthesis. Methylmalonic aciduria and homocystinuria, cobalamin deficiency type C is a well-known etiology for TMA. TMA has only rarely previously been reported in methionine synthase (cobalamin G) deficiency. Furthermore, results of only 7 kidney biopsies have previously been reported in this clinical setting. Here, we report a case of kidney- and glomerular-limited chronic active microangiopathy demonstrated on kidney biopsy in a patient with biochemically confirmed cobalamin G deficiency. A literature review of all prior reported cases is also presented and demonstrates hypertension, proteinuria, and hematuria to be common presenting symptoms. Age on onset ranged from 7 months to 14 years. Kidney-limited phenotype was less common and occurred only in older children. Acute kidney injury was more common in younger patients. Therapy with hydroxocobalamin and angiotensin-converting enzyme inhibitors resulted in variable clinical responses. |
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| ISSN: | 2673-3633 |