Cobalamin C deficiency complicated by an atypical glomerulopathy

Cobalamin C (cbl C) deficiency, an inherited disorder of vitamin B12 metabolism, causes elevated levels of methylmalonic acid and homocysteine and decreased methionine in all body fluids. Renal complications of cbl C disease are thrombotic microangiopathy (TMA), chronic renal failure, tubulointersti...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2002-10, Vol.17 (10), p.800-803
Main Authors: BRUNELLI, Steven M, MEYERS, Kevin E. C, GUTTENBERG, Marta, KAPLAN, Paige, KAPLAN, Bernard S
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Complement C3 - metabolism
Creatinine - blood
Glomerulonephritis, Membranous - genetics
Glomerulonephritis, Membranous - pathology
Humans
Kidney Function Tests
Kidney Glomerulus - pathology
Kidneys
Male
Medical sciences
Metabolism, Inborn Errors - genetics
Metabolism, Inborn Errors - pathology
Metabolism, Inborn Errors - psychology
Microscopy, Electron
Nephrology. Urinary tract diseases
Peripheral Vascular Diseases - pathology
Thrombosis - pathology
Urinary system involvement in other diseases. Miscellaneous
Vitamin B 12 Deficiency - genetics
Vitamin B 12 Deficiency - pathology
Vitamin B 12 Deficiency - psychology
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Cobalamin C (cbl C) deficiency, an inherited disorder of vitamin B12 metabolism, causes elevated levels of methylmalonic acid and homocysteine and decreased methionine in all body fluids. Renal complications of cbl C disease are thrombotic microangiopathy (TMA), chronic renal failure, tubulointerstitial nephritis and proximal renal tubular acidosis. There is, however, only one case report of primary glomerular pathology, focal segmental glomerulosclerosis, in a cbl C deficient patient. We report a case of an atypical glomerulopathy in a 16-year-old male patient with cbl C deficiency. The glomerulopathy manifested with proteinuria and progressive renal insufficiency. The renal histologic, immunofluorescent and ultrastructural findings were similar, but not identical, to idiopathic membranoproliferative glomerulonephritis (MPGN) but also overlapped with those of a TMA. The serum complement profile was normal; there were scanty glomerular deposits of C3, no deposits of IgG and ultrastructural findings that were similar to those seen in either MPGN type III or a TMA. On the basis of these findings we have designated the renal disease as an atypical glomerulopathy.
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-002-0895-1