Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency
Conclusions
Although uncommon, the clinical picture of CblC defects may be ruled by nephrotic syndrome mimicking glomerulonephritis, minimal change disease, or primary focal and segmental glomerulosclerosis. Key to a correct diagnosis is elevated serum levels of homocysteine, and a definite diagnosis can be confirmed by genetic testing.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research
More News: Anemia | Genetics | Glomerulonephritis | Hypertension | Nephritis | Nephrotic Syndrome | Pediatrics | Proteinuria | Renal Failure | Urology & Nephrology | Vitamin B12 | Vitamin B12 Deficiency | Vitamins